KEGG   Homo sapiens (human): 81929
Entry
81929             CDS       T01001                                 

Symbol
SEH1L, SEC13L, SEH1A, SEH1B, Seh1
Name
(RefSeq) SEH1 like nucleoporin
  KO
K14299  nucleoporin SEH1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa04150  mTOR signaling pathway
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    81929 (SEH1L)
 09130 Environmental Information Processing
  09132 Signal transduction
   04150 mTOR signaling pathway
    81929 (SEH1L)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    81929 (SEH1L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    81929 (SEH1L)
   04131 Membrane trafficking [BR:hsa04131]
    81929 (SEH1L)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     81929 (SEH1L)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   SEACAT/GATOR2 complex
    81929 (SEH1L)
SSDB
Motif
Pfam: WD40 ANAPC4_WD40 Ge1_WD40
Other DBs
NCBI-GeneID: 81929
NCBI-ProteinID: NP_112493
OMIM: 609263
HGNC: 30379
Ensembl: ENSG00000085415
Vega: OTTHUMG00000181909
Pharos: Q96EE3(Tbio)
UniProt: Q96EE3
Structure
LinkDB
Position
18:12947988..12987665
AA seq 360 aa
MFVARSIAADHKDLIHDVSFDFHGRRMATCSSDQSVKVWDKSESGDWHCTASWKTHSGSV
WRVTWAHPEFGQVLASCSFDRTAAVWEEIVGESNDKLRGQSHWVKRTTLVDSRTSVTDVK
FAPKHMGLMLATCSADGIVRIYEAPDVMNLSQWSLQHEISCKLSCSCISWNPSSSRAHSP
MIAVGSDDSSPNAMAKVQIFEYNENTRKYAKAETLMTVTDPVHDIAFAPNLGRSFHILAI
ATKDVRIFTLKPVRKELTSSGGPTKFEIHIVAQFDNHNSQVWRVSWNITGTVLASSGDDG
CVRLWKANYMDNWKCTGILKGNGSPVNGSSQQGTSNPSLGSTIPSLQNSLNGSSAGRKHS
NT seq 1083 nt   +upstreamnt  +downstreamnt
atgtttgtggctcgcagcatcgcggcggaccacaaggatctcatccacgatgtctctttc
gacttccacgggcggcggatggcaacctgctccagcgatcagagcgttaaggtctgggat
aaaagtgaaagtggtgattggcattgtactgctagctggaagacacatagtggatctgta
tggcgtgtgacatgggcccatcctgaatttgggcaggttttggcttcctgttcttttgac
cgaacagctgctgtatgggaagaaatagtaggagaatcaaatgataaactgcgaggacag
agccactgggttaaaaggacaactctggtggatagcagaacatctgttactgatgtgaag
tttgctcccaagcacatgggtcttatgttagcaacctgttccgcagatggtatagtaaga
atctatgaggcaccagatgttatgaatctcagccagtggtctttgcagcatgagatctca
tgtaagctaagctgtagttgtatttcttggaacccttcaagctctcgtgctcattccccc
atgatcgccgtaggaagtgatgacagtagccccaacgcaatggccaaggttcagattttt
gaatataatgaaaacaccaggaaatatgcaaaagctgaaactcttatgacagtcactgat
cctgttcatgatattgcattcgctccaaatttgggaagatctttccatattctagcaata
gcgaccaaagatgtgagaatttttacattaaagcctgtgaggaaagaactgacttcctct
ggtgggccaacaaagtttgaaatccatatagtggctcagttcgataatcataattctcag
gtctggcgagtgagttggaatataacaggaacggtgctagcatcttcaggagatgatggg
tgtgtaagattgtggaaagctaattatatggacaattggaagtgtactggtattttgaaa
ggtaatgggagcccagtcaatgggagttctcagcagggaacctcaaatccttccctaggt
tcaactattccaagtcttcagaattcattaaatggatcttctgctggcagaaagcacagc
tga

KEGG   Homo sapiens (human): 55746
Entry
55746             CDS       T01001                                 

Symbol
NUP133, GAMOS8, NPHS18, hNUP133
Name
(RefSeq) nucleoporin 133
  KO
K14300  nuclear pore complex protein Nup133
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01657  Nephrotic syndrome
H01722  Galloway-Mowat syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    55746 (NUP133)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    55746 (NUP133)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    55746 (NUP133)
   03036 Chromosome and associated proteins [BR:hsa03036]
    55746 (NUP133)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     55746 (NUP133)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    55746 (NUP133)
SSDB
Motif
Pfam: Nucleoporin_C
Other DBs
NCBI-GeneID: 55746
NCBI-ProteinID: NP_060700
OMIM: 607613
HGNC: 18016
Ensembl: ENSG00000069248
Vega: OTTHUMG00000039462
Pharos: Q8WUM0(Tbio)
UniProt: Q8WUM0
Structure
LinkDB
Position
1:complement(229440259..229508342)
AA seq 1156 aa
MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSS
RGTPTRMFPHHSITESVNYDVKTFGSSLPVKVMEALTLAEVDDQLTINIDEGGWACLVCK
EKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSYSSPSGEAHSTQAVAVMVATR
EGSIRYWPSLAGEDTYTEAFVDSGGDKTYSFLTAVQGGSFILSSSGSQLIRLIPESSGKI
HQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELD
DSSEKHAYSWDINRALKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWH
SADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLY
NESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVS
ILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAAFLQYCRKDLGHAQMV
VDELFSSHSDLDSDSELDRAVTQISVDLMDDYPASDPRWAESVPEEAPGFSNTSLIILHQ
LEDKMKAHSFLMDFIHQVGLFGRLGSFPVRGTPMATRLLLCEHAEKLSAAIVLKNHHSRL
SDLVNTAILIALNKREYEIPSNLTPADVFFREVSQVDTICECLLEHEEQVLRDAPMDSIE
WAEVVINVNNILKDMLQAASHYRQNRNSLYRREESLEKEPEYVPWTATSGPGGIRTVIIR
QHEIVLKVAYPQADSNLRNIVTEQLVALIDCFLDGYVSQLKSVDKSSNRERYDNLEMEYL
QKRSDLLSPLLSLGQYLWAASLAEKYCDFDILVQMCEQTDNQSRLQRYMTQFADQNFSDF
LFRWYLEKGKRGKLLSQPISQHGQLANFLQAHEHLSWLHEINSQELEKAHATLLGLANME
TRYFAKKKTLLGLSKLAALASDFSEDMLQEKIEEMAEQERFLLHQETLPEQLLAEKQLNL
SAMPVLTAPQLIGLYICEENRRANEYDFKKALDLLEYIDEEEDININDLKLEILCKALQR
DNWSSSDGKDDPIEVSKDSIFVKILQKLLKDGIQLSEYLPEVKDLLQADQLGSLKSNPYF
EFVLKANYEYYVQGQI
NT seq 3471 nt   +upstreamnt  +downstreamnt
atgttcccagccgccccttctccgcggaccccgggtaccgggtcccgaaggggcccgctg
gccggactcgggcccggctccacgccccggacggctagcaggaagggtctgcccctgggg
tctgcagtcagctccccagtgctcttctcgccggtcggccggcgtagctcgctaagctcg
cggggaacaccaacacgaatgttcccacaccactccataactgagtctgtgaactatgat
gtgaaaacgtttggatcttctcttcctgttaaagtcatggaagccctaacattggctgaa
gtcgatgaccagctgaccattaacatagatgaaggtggatgggcttgtctggtgtgcaaa
gagaagctcattatttggaagattgctctgtcacctattactaagttatccgtttgcaaa
gaacttcagctgccacctagtgatttccactggagtgccgacttagtggctctttcttac
tcttctccctcaggtgaagcacattctactcaggctgttgctgtcatggttgccaccaga
gaaggatctatccgctattggccaagccttgctggtgaagatacctacacagaggctttt
gtagattcgggaggtgataagacttacagtttcctaacagcagtgcagggaggaagtttt
attttgtcttcatcaggaagccaactaattcggttgatacctgagagctcaggaaagatt
catcagcatatcctgcctcaggggcaaggcatgctttcaggaattggtcgaaaagtttct
tctctttttggaattttatctcctagtagtgatctcacactttcaagtgttctctgggat
agagagagatcaagcttttatagcctgacgagttcaaacatcagtaaatgggaattagat
gattcttcagaaaagcatgcatacagttgggatataaatagagccctgaaggaaaacatt
accgatgctatttggggatctgaaagtaactatgaagctattaaagaaggagtcaacatt
cgatatttggacttgaagcaaaactgtgatgggctggtgattttggcagcagcatggcac
tcagcagacaatccatgtctcatctattactctctgataacaatagaagataatggttgc
caaatgtcagatgcagttactgtagaagtcactcaatataatccaccttttcagtctgaa
gacctgattttgtgtcagttgacggtcccaaacttttcaaaccagactgcctatctgtat
aacgaaagtgctgtctatgtgtgctccacaggaactgggaaattttctcttccccaggag
aaaattgtctttaatgcacaaggagatagtgttttaggtgctggtgcctgtggtggtgtt
cctatcattttttctagaaacagtggactggtgtctattacttcaagggaaaatgtgtct
atattggcagaagacttggaagggtctttagcatcttcagttgctggaccaaacagtgag
agtatgatttttgagaccactacaaagaatgaaactatagcccaggaagataaaatcaag
ttgctgaaagctgcctttctgcaatactgcagaaaagatttaggtcatgctcaaatggtg
gttgatgagctcttttcctctcactctgatttggattctgattctgaactagacagggca
gttacccaaatcagtgtagacctgatggatgactacccagcatctgacccacggtgggct
gagtctgtccctgaggaagcacctgggttcagcaatacgtcactgattatccttcaccag
ctagaagacaagatgaaagctcactcttttcttatggactttattcatcaagttggctta
tttggacgtctaggcagttttccagttagagggacaccgatggccactcgactgttgctc
tgtgagcatgccgaaaagctgtcagccgccattgttctcaagaaccaccactcccggctt
tctgaccttgtcaacacagccatattgattgctttgaacaagagggagtatgaaatccca
tccaacctgactcctgcagatgtctttttcagggaggtatcccaagtagataccatctgt
gagtgcttactggagcatgaggagcaagtcttgagggatgcacctatggattccattgaa
tgggctgaagtggtgatcaatgtgaacaatattctcaaggatatgctgcaggctgctagt
cattatcgccaaaatagaaactctttgtatagaagagaagaatcactagaaaaagaacct
gaatatgttccatggacggcaacaagtggtcctggtggcatccgaacggtaataatacgc
cagcatgagattgtcctgaaggtggcttatccacaggcagacagcaacctccgaaacatc
gtgaccgagcagctggtagccctgatcgattgcttcctggatggttatgtttctcagctt
aagtctgtggataaatccagtaatcgggaaagatatgacaatctggagatggaataccta
cagaaaagatcagatctcttatctcctcttctttcactaggccagtacctgtgggctgct
tctctagcagagaaatactgtgactttgatatattggtacaaatgtgtgagcagactgac
aaccagagccgactccagcgctacatgacccagtttgctgatcagaatttttcagacttt
ctcttccgttggtatctggagaaaggaaagcgaggcaaattattatctcagcccatttct
cagcatggacagttggcaaattttttgcaagctcatgaacatctcagctggttacatgaa
attaatagccaagaattagaaaaggctcatgcaacacttctgggtttggcaaatatggaa
actcgttactttgcaaagaagaaaacccttcttggcttgagtaaattggctgcattagct
tcagacttttcagaggatatgctacaagaaaaaattgaagaaatggctgagcaggagcgc
tttctactgcatcaggagaccctacctgaacagctgctggcggagaaacagctaaatctc
agtgcgatgccagtattgactgcaccacaactcattggtctatatatctgtgaagaaaat
agaagagctaatgaatatgatttcaagaaagctttggacttgttggaatatattgatgag
gaagaagatataaatataaatgatctaaaactggaaatcctttgcaaagctcttcagaga
gataactggtccagttctgatggcaaagatgatccaattgaagtatctaaagacagtata
tttgtgaagatcttacagaaacttttaaaagatggcattcagctcagtgagtacttaccg
gaggtgaaagacctgctacaagcggatcagcttggaagcttaaagtccaatccttacttc
gagtttgttttgaaagcaaattatgaatattatgttcagggacaaatataa

KEGG   Homo sapiens (human): 57122
Entry
57122             CDS       T01001                                 

Symbol
NUP107, NPHS11, NUP84, ODG6, GAMOS7
Name
(RefSeq) nucleoporin 107
  KO
K14301  nuclear pore complex protein Nup107
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00599  Ovarian dysgenesis
H01657  Nephrotic syndrome
H01722  Galloway-Mowat syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    57122 (NUP107)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    57122 (NUP107)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    57122 (NUP107)
   03036 Chromosome and associated proteins [BR:hsa03036]
    57122 (NUP107)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     57122 (NUP107)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    57122 (NUP107)
SSDB
Motif
Pfam: Nup84_Nup100
Other DBs
NCBI-GeneID: 57122
NCBI-ProteinID: NP_065134
OMIM: 607617
HGNC: 29914
Ensembl: ENSG00000111581
Vega: OTTHUMG00000169265
Pharos: P57740(Tbio)
UniProt: P57740
Structure
LinkDB
Position
12:68686971..68745809
AA seq 925 aa
MDRSGFGEISSPVIREAEVTRTARKQSAQKRVLLQASQDENFGNTTPRNQVIPRTPSSFR
QPFTPTSRSLLRQPDISCILGTGGKSPRLTQSSGFFGNLSMVTNLDDSNWAAAFSSQRSG
LFTNTEPHSITEDVTISAVMLREDDPGEAASMSMFSDFLQSFLKHSSSTVFDLVEEYENI
CGSQVNILSKIVSRATPGLQKFSKTASMLWLLQQEMVTWRLLASLYRDRIQSALEEESVF
AVTAVNASEKTVVEALFQRDSLVRQSQLVVDWLESIAKDEIGEFSDNIEFYAKSVYWENT
LHTLKQRQLTSYVGSVRPLVTELDPDAPIRQKMPLDDLDREDEVRLLKYLFTLIRAGMTE
EAQRLCKRCGQAWRAATLEGWKLYHDPNVNGGTELEPVEGNPYRRIWKISCWRMAEDELF
NRYERAIYAALSGNLKQLLPVCDTWEDTVWAYFRVMVDSLVEQEIQTSVATLDETEELPR
EYLGANWTLEKVFEELQATDKKRVLEENQEHYHIVQKFLILGDIDGLMDEFSKWLSKSRN
NLPGHLLRFMTHLILFFRTLGLQTKEEVSIEVLKTYIQLLIREKHTNLIAFYTCHLPQDL
AVAQYALFLESVTEFEQRHHCLELAKEADLDVATITKTVVENIRKKDNGEFSHHDLAPAL
DTGTTEEDRLKIDVIDWLVFDPAQRAEALKQGNAIMRKFLASKKHEAAKEVFVKIPQDSI
AEIYNQCEEQGMESPLPAEDDNAIREHLCIRAYLEAHETFNEWFKHMNSVPQKPALIPQP
TFTEKVAHEHKEKKYEMDFGIWKGHLDALTADVKEKMYNVLLFVDGGWMVDVREDAKEDH
ERTHQMVLLRKLCLPMLCFLLHTILHSTGQYQECLQLADMVSSERHKLYLVFSKEELRKL
LQKLRESSLMLLDQGLDPLGYEIQL
NT seq 2778 nt   +upstreamnt  +downstreamnt
atggacaggagtggctttggagagatatcatcccctgtaatccgggaggcagaggtgaca
cggactgcacggaaacagagtgctcagaaaagagttttacttcaggcatctcaagatgaa
aattttggtaatactacaccaagaaaccaggttatccctcgaactcctagctcatttcga
cagccttttaccccaacaagccgaagcttactaaggcagccagatatttcctgcattctt
ggaacaggagggaagtcgccccgacttacgcagtcttcagggttctttggaaatctctcc
atggttactaatctggatgacagtaactgggcagctgcattttcatcacagcgttccggg
ctgttcacaaacacagagccccacagtataacagaagatgtaactatcagtgctgttatg
ttacgtgaggatgatcctggagaagctgcatccatgagtatgttttctgatttcctgcag
tcttttctgaagcactcttcgagtacagtttttgatcttgtggaagagtatgaaaacatc
tgtggtagtcaggtgaatatactgagtaaaatagtgagtcgagcaacacctggacttcaa
aaattttcaaaaacagccagtatgctctggcttcttcaacaggagatggtcacatggagg
ctgctggcttctttgtatagagacagaatacagtctgcattagaagaggaaagtgtattc
gcagttactgctgttaatgccagtgaaaaaacagttgtggaagcgttatttcagagggat
tcacttgttcgacaaagtcagctggtggtagattggttagagagtattgccaaagatgaa
attggagaattttctgataatattgagttttatgcaaaatcagtatattgggaaaatact
ctgcataccttaaaacaacggcagctgacttcttacgttggaagtgttcgtccgcttgtc
actgaattggaccctgatgctcccataagacagaaaatgccccttgatgatctggataga
gaagatgaagttagattactcaaatatctctttactctaatccgtgctggaatgacagaa
gaggcacaacgactctgtaaacgctgtggtcaagcatggagagctgcaacacttgaaggc
tggaaactgtaccatgaccctaatgttaatggaggaacagaattagaacctgttgaaggg
aatccatatagacgcatttggaaaataagttgctggagaatggcagaagatgagcttttt
aatagatacgagagagcaatttatgcagctttaagtgggaatcttaagcagctgcttcct
gtctgtgacacctgggaagacacagtttgggcctacttccgggtgatggtggacagtctg
gtagaacaggagatccagacatcagtagcaactctggatgaaactgaagaactccctaga
gaatatctgggagcaaactggacgttagaaaaggtttttgaggaacttcaagctactgac
aaaaagagagttctggaagagaatcaagaacattatcatatagttcaaaagtttcttatc
ctgggagacattgatggtttgatggatgagtttagcaaatggctttccaaaagcagaaac
aatctacctggacacctgcttcgctttatgactcaccttattttgtttttccgtactctg
ggactacagaccaaggaggaagtttctattgaagttttaaagacatacatacagctttta
ataagagagaaacatacaaatcttatagcattttatacctgtcatttgcctcaagaccta
gctgttgcccagtatgcattatttttggaaagtgttacagaatttgaacagcgccaccat
tgcctggagttggctaaagaagcagatttggatgttgcaacaataacaaaaactgtagtt
gagaatattcgaaagaaagataatggtgaatttagtcatcatgacctggccccagcccta
gatactggcactactgaggaggatcgtttaaaaattgatgtaattgactggttggtattt
gacccagcgcagagggcagaagcactgaaacaaggcaatgcaattatgagaaaattcttg
gcatcaaaaaagcacgaagctgcaaaagaagtatttgtgaaaattcctcaggattctata
gcagaaatctataatcagtgcgaggaacaaggaatggaaagtccacttcctgctgaagat
gataatgctatccgagaacatttgtgcatcagagcttatttggaagcccatgaaaccttt
aatgagtggtttaagcatatgaattcagttccacaaaaacctgctttgatacctcaacca
acttttactgagaaagtggctcatgaacacaaagaaaagaaatatgaaatggattttggt
atttggaaagggcatttggatgccctaactgctgatgtgaaggagaaaatgtataacgtc
ttgttgtttgttgatggagggtggatggtggatgttagagaggatgccaaagaagaccat
gaaagaacacatcaaatggtcttactgagaaagctttgtctgccaatgttgtgttttctg
cttcatacgatattgcacagtactggtcagtatcaggaatgcctacagttagcagatatg
gtatcctctgagcgccacaaactgtacctggtattttctaaggaagagctaaggaagttg
ctgcagaagctcagagagtcctctctaatgctcctagaccagggacttgacccattaggg
tatgaaattcagttatag

KEGG   Homo sapiens (human): 79023
Entry
79023             CDS       T01001                                 

Symbol
NUP37, MCPH24, p37
Name
(RefSeq) nucleoporin 37
  KO
K14302  nuclear pore complex protein Nup37
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00269  Primary microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    79023 (NUP37)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    79023 (NUP37)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    79023 (NUP37)
   03036 Chromosome and associated proteins [BR:hsa03036]
    79023 (NUP37)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     79023 (NUP37)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    79023 (NUP37)
SSDB
Motif
Pfam: WD40 ANAPC4_WD40
Other DBs
NCBI-GeneID: 79023
NCBI-ProteinID: NP_076962
OMIM: 609264
HGNC: 29929
Ensembl: ENSG00000075188
Vega: OTTHUMG00000170478
Pharos: Q8NFH4(Tdark)
UniProt: Q8NFH4
Structure
LinkDB
Position
12:complement(102073103..102120131)
AA seq 326 aa
MKQDASRNAAYTVDCEDYVHVVEFNPFENGDSGNLIAYGGNNYVVIGTCTFQEEEADVEG
IQYKTLRTFHHGVRVDGIAWSPETRLDSLPPVIKFCTSAADMKIRLFTSDLQDKNEYKVL
EGHTDFINGLVFDPKEGQEIASVSDDHTCRIWNLEGVQTAHFVLHSPGMSVCWHPEETFK
LMVAEKNGTIRFYDLLAQQAILSLESEQVPLMSAHWCLKNTFKVGAVAGNDWLIWDITRS
SYPQNKRPVHMDRACLFRWSTISENLFATTGYPGKMASQFQIHHLGHPQPILMGSVAVGS
GLSWHRTLPLCVIGGDHKLLFWVTEV
NT seq 981 nt   +upstreamnt  +downstreamnt
atgaagcaagatgcctcaagaaatgctgcctacactgtggattgtgaagattatgtgcat
gtggtagaatttaatccctttgagaatggggattcaggaaacctaattgcatatggtggc
aataattatgtggtcattggcacgtgtacgtttcaggaagaagaagcagacgttgaaggc
attcagtataaaacacttcgaacatttcaccatggagtcagggttgatggcatagcttgg
agcccagagactagacttgattcattgcctccagtaatcaaattttgtacttcagctgct
gatatgaaaattagattatttacttcagatcttcaggataaaaatgaatataaggtttta
gagggccataccgatttcattaatggtttggtgtttgatcccaaagaaggccaagaaatt
gcaagtgtgagtgacgatcacacctgcaggatttggaacttggaaggagtgcaaacagct
cattttgttcttcattctcctggcatgagtgtgtgctggcatcctgaggagacttttaag
ctaatggttgcagagaagaatggaacaatccggttttatgatcttttggcccaacaggct
attttatctcttgaatcagaacaagtgccattaatgtcagcacactggtgcttaaaaaac
accttcaaagttggagccgttgcaggaaatgattggttaatttgggatattactcggtcc
agttatcctcaaaataagagacctgttcacatggatcgagcctgcttattcaggtggtcc
acaattagtgaaaatctgtttgcaaccactggttatcctggcaaaatggcaagccagttt
caaattcatcatttaggacaccctcagcccatcctcatgggttctgtagccgttggatct
ggactgtcctggcatcgaactctccctctgtgtgtaattggaggagaccacaagctgttg
ttttgggtgactgaagtataa

KEGG   Homo sapiens (human): 23279
Entry
23279             CDS       T01001                                 

Symbol
NUP160, NPHS19
Name
(RefSeq) nucleoporin 160
  KO
K14303  nuclear pore complex protein Nup160
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    23279 (NUP160)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23279 (NUP160)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23279 (NUP160)
   03036 Chromosome and associated proteins [BR:hsa03036]
    23279 (NUP160)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     23279 (NUP160)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    23279 (NUP160)
SSDB
Motif
Pfam: Nup160
Other DBs
NCBI-GeneID: 23279
NCBI-ProteinID: NP_056046
OMIM: 607614
HGNC: 18017
Ensembl: ENSG00000030066
Vega: OTTHUMG00000166534
Pharos: Q12769(Tbio)
UniProt: Q12769
Structure
LinkDB
Position
11:complement(47778118..47848544)
AA seq 1402 aa
MAAAGALERSFVELSGAERERPRHFREFTVCSIGTANAVAGAVKYSESAGGFYYVESGKL
FSVTRNRFIHWKTSGDTLELMEESLDINLLNNAIRLKFQNCSVLPGGVYVSETQNRVIIL
MLTNQTVHRLLLPHPSRMYRSELVVDSQMQSIFTDIGKVDFTDPCNYQLIPAVPGISPNS
TASTAWLSSDGEALFALPCASGGIFVLKLPPYDIPGMVSVVELKQSSVMQRLLTGWMPTA
IRGDQSPSDRPLSLAVHCVEHDAFIFALCQDHKLRMWSYKEQMCLMVADMLEYVPVKKDL
RLTAGTGHKLRLAYSPTMGLYLGIYMHAPKRGQFCIFQLVSTESNRYSLDHISSLFTSQE
TLIDFALTSTDIWALWHDAENQTVVKYINFEHNVAGQWNPVFMQPLPEEEIVIRDDQDPR
EMYLQSLFTPGQFTNEALCKALQIFCRGTERNLDLSWSELKKEVTLAVENELQGSVTEYE
FSQEEFRNLQQEFWCKFYACCLQYQEALSHPLALHLNPHTNMVCLLKKGYLSFLIPSSLV
DHLYLLPYENLLTEDETTISDDVDIARDVICLIKCLRLIEESVTVDMSVIMEMSCYNLQS
PEKAAEQILEDMITIDVENVMEDICSKLQEIRNPIHAIGLLIREMDYETEVEMEKGFNPA
QPLNIRMNLTQLYGSNTAGYIVCRGVHKIASTRFLICRDLLILQQLLMRLGDAVIWGTGQ
LFQAQQDLLHRTAPLLLSYYLIKWGSECLATDVPLDTLESNLQHLSVLELTDSGALMANR
FVSSPQTIVELFFQEVARKHIISHLFSQPKAPLSQTGLNWPEMITAITSYLLQLLWPSNP
GCLFLECLMGNCQYVQLQDYIQLLHPWCQVNVGSCRFMLGRCYLVTGEGQKALECFCQAA
SEVGKEEFLDRLIRSEDGEIVSTPRLQYYDKVLRLLDVIGLPELVIQLATSAITEAGDDW
KSQATLRTCIFKHHLDLGHNSQAYEALTQIPDSSRQLDCLRQLVVVLCERSQLQDLVEFP
YVNLHNEVVGIIESRARAVDLMTHNYYELLYAFHIYRHNYRKAGTVMFEYGMRLGREVRT
LRGLEKQGNCYLAALNCLRLIRPEYAWIVQPVSGAVYDRPGASPKRNHDGECTAAPTNRQ
IEILELEDLEKECSLARIRLTLAQHDPSAVAVAGSSSAEEMVTLLVQAGLFDTAISLCQT
FKLPLTPVFEGLAFKCIKLQFGGEAAQAEAWAWLAANQLSSVITTKESSATDEAWRLLST
YLERYKVQNNLYHHCVINKLLSHGVPLPNWLINSYKKVDAAELLRLYLNYDLLEEAVDLV
SEYVDAVLGKGHQYFGIEFPLSATAPMVWLPYSSIDQLLQALGENSANSHNIALSQKILD
KLEDYQQKVDKATRDLLYRRTL
NT seq 4209 nt   +upstreamnt  +downstreamnt
atggcggcggcgggagccctggaacggagcttcgtggagctaagcggagctgagcgcgaa
aggccgaggcactttcgggaattcacagtctgcagcattgggactgcaaatgccgtggct
ggcgccgtaaaatacagtgaaagcgcgggaggcttttactacgtggagagtggcaagttg
ttctccgtaaccagaaacaggttcattcattggaagacctctggagatacattggagctg
atggaggagtcactggacataaatctgttgaataatgccattcgcctaaaattccaaaat
tgcagtgttttacctggaggggtttatgtctctgagactcagaatcgtgtgataatcttg
atgttaaccaatcaaacagtgcacaggttacttttaccacacccctcccggatgtatagg
agtgagttggtagttgacagtcagatgcagtcaatattcactgacattggaaaagttgat
ttcacagatccttgcaactatcagttaattccagcagtacctggaatatctcctaattcc
accgcctctacagcctggctcagcagtgatggggaggccctgtttgccttaccatgtgct
tctgggggaatctttgttcttaagctacctccttatgacatacctggtatggtgtcagtc
gtggaactgaaacagagttcagtaatgcaacgattgcttacaggctggatgccaacagct
atcaggggtgaccagtcgccttcagatcgtcccctcagtcttgctgttcattgtgtggag
catgatgccttcatctttgctttgtgtcaggatcataaactacgaatgtggtcttacaag
gagcaaatgtgcctaatggtagctgacatgctggagtatgtccctgtgaagaaagacctt
cggcttactgctggaactggacacaaattacggcttgcttattcccccaccatgggactc
tacctggggatatacatgcatgcaccaaaacgaggacagttctgcattttccagttggtg
agcactgagagtaatcgctatagtctcgatcatatttcttcactgttcacttctcaggag
acactgattgactttgccttaacttccacggatatctgggccctgtggcatgatgctgag
aaccaaacagtagtgaaatacatcaactttgaacataatgttgcaggtcagtggaatcca
gtttttatgcagcctctgccagaggaagagattgtcatcagagatgatcaagaccccaga
gagatgtatctgcaaagtctttttacaccaggacaattcacaaatgaagctttatgtaag
gctttacagattttctgccgaggaactgagaggaatttggatctttcctggagtgaactg
aagaaagaagttactttagctgttgaaaatgagcttcaaggaagtgtaacagagtatgaa
ttctcccaggaggagtttcgaaatttacaacaagaattctggtgcaagttctatgcctgt
tgtcttcagtatcaagaagccctctctcaccctcttgccctacatttgaatccacacaca
aacatggtgtgcctgctgaaaaaagggtacctgtctttccttattccctcatccttagtg
gatcatttgtatctcctgccttatgagaaccttttgacagaagatgagacaaccatatct
gatgatgtggacatcgctcgggatgtcatatgtcttataaaatgcctccggctgattgaa
gagtcagtaactgtggatatgtcagttataatggaaatgagttgttataacctacagtct
ccggaaaaggctgcagagcagattctggaagatatgatcactattgatgtagaaaatgtg
atggaggatatttgtagtaaactgcaagagattaggaacccaatccatgcaattggacta
cttatacgggaaatggattatgaaacagaagtggaaatggaaaagggattcaatccagct
cagcctttgaatattcgaatgaatcttacccagctctatggtagtaacacagcagggtat
attgtgtgcagaggggtgcataaaatcgccagtactcgtttcctgatctgcagagatctt
ttgatcttacagcagctgttaatgaggcttggagatgctgtgatttggggaactggtcag
ctctttcaagctcagcaagacctactacatcgaacagctcccctactcttatcttattac
ctcattaaatggggaagtgagtgcttggcaactgatgttccacttgacacactggagtct
aatctccaacacttatcagtactggaattaacagactctggtgctttaatggcaaatagg
tttgtatctagtcctcagactattgtggagttattcttccaagaagttgcaagaaaacac
attatatctcacctcttctctcagccaaaggcacctctgagccaaactggattgaattgg
cctgaaatgattactgcaattaccagttatttattgcagcttttatggcctagcaatcct
ggttgtctctttctagaatgtttgatgggaaattgccaatatgtacaattgcaggattat
attcaactgctacatccctggtgtcaagtcaatgttggttcctgtcgatttatgctggga
aggtgttacctagttacaggagaaggacagaaggctctggaatgtttttgtcaggcagca
tctgaagtaggcaaagaggaattcttggatcgcttgattcgctcagaggatggggagatc
gtgtctacccccaggctgcagtattatgacaaggttttacgactactagatgtcattggt
ttgcctgaactggttattcagttggctacatcagccataactgaagcaggtgatgactgg
aaaagtcaggctactctaaggacatgtattttcaaacatcatttggatttgggtcacaat
agccaagcatatgaagccttaacccaaattcctgattccagcaggcaattagattgttta
cggcagttggtggtagttctttgtgaacgctcacagctacaggatcttgtagagtttccc
tatgtgaatctgcataatgaggttgtgggaataattgagtcacgtgctagagctgtggac
cttatgactcacaattactatgaacttctgtatgcctttcacatctatcgccacaattac
cgcaaggctggcacagtgatgtttgagtatggaatgcggcttggcagagaagttcgaact
ctccggggacttgagaaacaaggcaactgttatctggctgctctcaattgtttacgactt
attcgtccagaatatgcgtggattgtgcagccagtgtctggtgcagtgtatgatcgccct
ggagcatcccctaagaggaatcatgatggagaatgcacagctgcccccacaaatcgacaa
attgaaatcctggaactggaagatctggagaaagagtgttccttggctcgcatccgcctc
actttggctcagcatgatccatcagcggttgcagttgctggaagttcatcagcagaggaa
atggtcactctcttggttcaggcgggcctctttgacactgccatatcactctgtcagact
tttaagcttcccttaacgccagtctttgaagggcttgccttcaaatgcatcaaattgcaa
tttggaggagaggcagcacaagcagaagcctgggcctggctagcagccaatcagctctca
tctgtcatcactactaaggagtctagtgctacagatgaagcatggcgactattatccact
tacctggagaggtacaaagtccagaataacttgtatcaccactgtgtaatcaacaagctc
ttgtctcatggagtgcctctgcctaattggcttataaacagttacaagaaggttgatgct
gctgaattgcttcgtttatacttaaactatgaccttttagaagaagctgtggatttggtg
tcagaatatgtggatgctgtattgggaaaaggacatcaatacttcggaattgagtttcca
ctgtccgcaacagccccaatggtgtggcttccatactcctctattgatcagcttctccaa
gctctgggagagaacagtgccaacagtcacaacatcgcactgtcccagaaaatacttgac
aaattggaggactaccagcaaaaagttgataaggcaacacgggatttattatatcgtcgg
accttgtga

KEGG   Homo sapiens (human): 79902
Entry
79902             CDS       T01001                                 

Symbol
NUP85, FROUNT, NPHS17, Nup75
Name
(RefSeq) nucleoporin 85
  KO
K14304  nuclear pore complex protein Nup85
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    79902 (NUP85)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    79902 (NUP85)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    79902 (NUP85)
   03036 Chromosome and associated proteins [BR:hsa03036]
    79902 (NUP85)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     79902 (NUP85)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    79902 (NUP85)
SSDB
Motif
Pfam: Nucleopor_Nup85 TPR_4
Other DBs
NCBI-GeneID: 79902
NCBI-ProteinID: NP_079120
OMIM: 170285
HGNC: 8734
Ensembl: ENSG00000125450
Vega: OTTHUMG00000179482
Pharos: Q9BW27(Tbio)
UniProt: Q9BW27
Structure
LinkDB
Position
17:75205557..75235758
AA seq 656 aa
MEELDGEPTVTLIPGVNSKKNQMYFDWGPGEMLVCETSFNKKEKSEMVPSCPFIYIIRKD
VDVYSQILRKLFNESHGIFLGLQRIDEELTGKSRKSQLVRVSKNYRSVIRACMEEMHQVA
IAAKDPANGRQFSSQVSILSAMELIWNLCEILFIEVAPAGPLLLHLLDWVRLHVCEVDSL
SADVLGSENPSKHDSFWNLVTILVLQGRLDEARQMLSKEADASPASAGICRIMGDLMRTM
PILSPGNTQTLTELELKWQHWHEECERYLQDSTFATSPHLESLLKIMLGDEAALLEQKEL
LSNWYHFLVTRLLYSNPTVKPIDLHYYAQSSLDLFLGGESSPEPLDNILLAAFEFDIHQV
IKECSIALSNWWFVAHLTDLLDHCKLLQSHNLYFGSNMREFLLLEYASGLFAHPSLWQLG
VDYFDYCPELGRVSLELHIERIPLNTEQKALKVLRICEQRQMTEQVRSICKILAMKAVRN
NRLGSALSWSIRAKDAAFATLVSDRFLRDYCERGCFSDLDLIDNLGPAMMLSDRLTFLGK
YREFHRMYGEKRFADAASLLLSLMTSRIAPRSFWMTLLTDALPLLEQKQVIFSAEQTYEL
MRCLEDLTSRRPVHGESDTEQLQDDDIETTKVEMLRLSLARNLARAIIREGSLEGS
NT seq 1971 nt   +upstreamnt  +downstreamnt
atggaggagctcgatggcgagccaacagtcactttgattccaggcgtgaattccaagaag
aaccaaatgtattttgactggggtccaggggagatgctggtatgtgaaacctccttcaac
aaaaaagaaaaatcagagatggtgccaagttgcccctttatctatatcatccgtaaggat
gtagatgtttactctcaaatcttgagaaaactcttcaatgaatcccatggaatctttctg
ggcctccagagaattgacgaagagttgactggaaaatccagaaaatctcaattggttcga
gtgagtaaaaactaccgatcagtcatcagagcatgtatggaggaaatgcaccaggttgca
attgctgctaaagatccagccaatggccgccagttcagcagccaggtctccattttgtca
gcaatggagctcatctggaacctgtgtgagattctttttattgaagtggccccagctggc
cctctcctcctccatctccttgactgggtccggctccatgtgtgcgaggtggacagtttg
tcggcagatgttctgggcagtgagaatccaagcaaacatgacagcttctggaacttggtg
accatcttggtgctgcagggccggctggatgaggcccgacagatgctctccaaggaagcc
gatgccagccccgcctctgcaggcatatgccgaatcatgggggacctgatgaggacaatg
cccattcttagtcccgggaacacccagacactgacagagctggagctgaagtggcagcac
tggcacgaggaatgtgagcggtacctccaggacagcacattcgccaccagccctcacctg
gagtctctcttgaagattatgctgggagacgaagctgccttgttagagcagaaggaactt
ctgagtaattggtatcatttcctagtgactcggctcttgtactccaatcccacagtaaaa
cccattgatctgcactactatgcccagtccagcctggacctgtttctgggaggtgagagc
agcccagaacccctggacaacatcttgttggcagcctttgagtttgacatccatcaagta
atcaaagagtgcagcatcgccctgagcaactggtggtttgtggcccacctgacagacctg
ctggaccactgcaagctcctccagtcacacaacctctatttcggttccaacatgagagag
ttcctcctgctggagtacgcctcgggactgtttgctcatcccagcctgtggcagctgggg
gtcgattactttgattactgccccgagctgggccgagtctccctggagctgcacattgag
cggatacctctgaacaccgagcagaaagccctgaaggtgctgcggatctgtgagcagcgg
cagatgactgaacaagttcgcagcatttgtaagatcttagccatgaaagccgtccgcaac
aatcgcctgggttctgccctctcttggagcatccgtgctaaggatgccgcctttgccacg
ctcgtgtcagacaggttcctcagggattactgtgagcgaggctgcttttctgatttggat
ctcattgacaacctggggccagccatgatgctcagtgaccgactgacattcctgggaaag
tatcgcgagttccaccgtatgtacggggagaagcgttttgccgacgcagcttctctcctt
ctgtccttgatgacgtctcggattgcccctcggtctttctggatgactctgctgacagac
gccttgccccttttggaacagaaacaggtgattttctcagcagaacagacttatgagttg
atgcggtgtctggaggacttgacgtcaagaagacctgtgcatggagaatctgataccgag
cagctccaggatgatgacatagagaccaccaaggtggaaatgctgagactttctctggca
cgaaatcttgctcgggcaattataagagaaggctcactggaaggttcctga

KEGG   Homo sapiens (human): 348995
Entry
348995            CDS       T01001                                 

Symbol
NUP43, bA350J20.1, p42
Name
(RefSeq) nucleoporin 43
  KO
K14305  nuclear pore complex protein Nup43
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    348995 (NUP43)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    348995 (NUP43)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    348995 (NUP43)
   03036 Chromosome and associated proteins [BR:hsa03036]
    348995 (NUP43)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     348995 (NUP43)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    348995 (NUP43)
SSDB
Motif
Pfam: WD40
Other DBs
NCBI-GeneID: 348995
NCBI-ProteinID: NP_942590
OMIM: 608141
HGNC: 21182
Ensembl: ENSG00000120253
Vega: OTTHUMG00000015795
Pharos: Q8NFH3(Tdark)
UniProt: Q8NFH3 Q8TEA6
Structure
LinkDB
Position
6:complement(149724315..149746529)
AA seq 380 aa
MEEIYAKFVSQKISKTRWRPLPPGSLQTAETFATGSWDNEENYISLWSIGDFGNLDSDGG
FEGDHQLLCDIRHHGDVMDLQFFDQERIVAASSTGCVTVFLHHPNNQTLSVNQQWTTAHY
HTGPGSPSYSSAPCTGVVCNNPEIVTVGEDGRINLFRADHKEAVRTIDNADSSTLHAVTF
LRTPEILTVNSIGQLKIWDFRQQGNEPSQILSLTGDRVPLHCVDRHPNQQHVVATGGQDG
MLSIWDVRQGTMPVSLLKAHEAEMWEVHFHPSNPEHLFTCSEDGSLWHWDASTDVPEKSS
LFHQGGRSSTFLSHSISNQANVHQSVISSWLSTDPAKDRIEITSLLPSRSLSVNTLDVLG
PCLVCGTDAEAIYVTRHLFS
NT seq 1143 nt   +upstreamnt  +downstreamnt
atggaggaaatttatgcgaagtttgtgtcccagaaaatcagcaaaacccgctggcgaccg
ctgcctccgggaagtttacagaccgcggagacgttcgctacaggatcttgggacaatgag
gaaaattatatttcactgtggtctattggagattttggaaacttggactctgatggaggg
tttgaaggagaccatcagttattgtgtgatatcagacaccatggtgatgtaatggattta
cagttttttgaccaggaaagaattgtcgctgcttcatcaacaggatgtgtaacagttttc
cttcaccatccaaataaccagactctgtcagtcaaccagcagtggactacagctcactac
cacacaggccctggcagtccttcctatagcagtgcaccatgtacaggtgttgtgtgcaac
aacccagaaatcgttacagttggagaggatggtcgaataaatctcttcagagctgatcac
aaggaagctgtaagaaccatagacaatgcagatagtagtacactccatgctgtaaccttt
cttcgaactcctgagattcttactgtaaattcaattggacagttgaaaatatgggatttc
agacaacaaggaaatgagccttctcagatattgtcactgactggtgaccgagtgccactc
cactgtgttgatagacatcccaaccaacagcatgttgtagctactggtggccaagatgga
atgttgagtatttgggatgttagacaaggtactatgcctgtatctctgctgaaggctcat
gaagctgaaatgtgggaagttcactttcacccatccaacccagaacatctttttacctgc
tctgaagatggatccctctggcactgggatgcttccacagatgtacctgaaaagtcgtca
ctctttcaccaaggaggaagaagcagtacttttttgtctcatagcattagtaaccaagct
aatgttcaccagtctgtcattagctcctggctcagcactgatcctgcaaaagaccgaatt
gaaatcacaagcttacttcccagtaggtctctgtctgtgaacactttggatgttttaggt
ccttgtcttgtttgtggaaccgatgcagaagcaatttatgttactagacatcttttttcg
tag

KEGG   Homo sapiens (human): 23636
Entry
23636             CDS       T01001                                 

Symbol
NUP62, IBSN, SNDI, p62
Name
(RefSeq) nucleoporin 62
  KO
K14306  nuclear pore complex protein Nup62
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01177  Infantile bilateral striatal necrosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    23636 (NUP62)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23636 (NUP62)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23636 (NUP62)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     23636 (NUP62)
SSDB
Motif
Pfam: Nsp1_C DUF4164 Exonuc_VII_L
Other DBs
NCBI-GeneID: 23636
NCBI-ProteinID: NP_001180286
OMIM: 605815
HGNC: 8066
Ensembl: ENSG00000213024
Vega: OTTHUMG00000183077
Pharos: P37198(Tbio)
UniProt: P37198 A0A024QZF1
Structure
LinkDB
Position
19:complement(49906825..49929504)
AA seq 522 aa
MSGFNFGGTGAPTGGFTFGTAKTATTTPATGFSFSTSGTGGFNFGAPFQPATSTPSTGLF
SLATQTPATQTTGFTFGTATLASGGTGFSLGIGASKLNLSNTAATPAMANPSGFGLGSSN
LTNAISSTVTSSQGTAPTGFVFGPSTTSVAPATTSGGFSFTGGSTAQPSGFNIGSAGNSA
QPTAPATLPFTPATPAATTAGATQPAAPTPTATITSTGPSLFASIATAPTSSATTGLSLC
TPVTTAGAPTAGTQGFSLKAPGAASGTSTTTSTAATATATTTSSSSTTGFALNLKPLAPA
GIPSNTAAAVTAPPGPGAAAGAAASSAMTYAQLESLINKWSLELEDQERHFLQQATQVNA
WDRTLIENGEKITSLHREVEKVKLDQKRLDQELDFILSQQKELEDLLSPLEELVKEQSGT
IYLQHADEEREKTYKLAENIDAQLKRMAQDLKDIIEHLNTSGAPADTSDPLQQICKILNA
HMDSLQWIDQNSALLQRKVEEVTKVCEGRRKEQERSFRITFD
NT seq 1569 nt   +upstreamnt  +downstreamnt
atgagcgggtttaattttggaggcactggggcccctacaggcgggttcacgtttggcact
gcaaagacggcaacaaccacacctgctacagggttttctttctccacctctggcactgga
gggtttaattttggggctcccttccaaccagccacaagtaccccttccaccggcctgttc
tcacttgccacccagactccggccacacagacgacaggcttcacttttggaacagcgact
cttgcttcggggggaactggattttctttggggatcggtgcttcaaagctcaacttgagc
aacacagctgccaccccagccatggcaaaccccagcggctttgggctgggcagcagcaac
ctcactaatgccatatcgagcaccgtcacctccagccagggcacagcacccaccggcttt
gtgtttggcccctccaccacctctgtggctccagctaccacatctggaggcttctcattc
actggtggaagcacggcccaaccctccggtttcaacattggctcagcagggaattcagcc
cagcccacggcacctgccacgttgcccttcactccggccacgccagcagccaccacagca
ggtgccacacagccagctgctcccacacccacagccaccatcaccagcactgggcccagc
ctctttgcgtcaatagcaactgctccaacctcatctgccaccactggactctccctctgt
acccctgtgaccacagcgggcgcccccactgctgggacacagggcttcagcttaaaggca
cctggagcagcttccggcacctccacaacaacatccaccgctgccaccgccaccgccacc
accaccagcagcagcagcaccaccggctttgccttgaatttaaaaccactggcgccagcc
gggatccccagcaatacagcagctgccgtgaccgctccacctggccctggcgcagctgca
ggggcggctgccagctccgccatgacctacgcgcagctggagagcctgatcaacaaatgg
agcctggagctagaggaccaggagcggcacttcctccagcaggccacccaggtcaacgcc
tgggaccgcacgctgatcgagaatggagaaaagatcaccagcctgcaccgcgaggtggag
aaggtgaagctggaccagaagaggctggaccaggagctcgacttcatcctgtcccagcag
aaggagctggaagacctgctgagcccactggaggagttggtcaaggagcagagcgggacc
atctacctgcagcacgcggatgaggagcgtgagaaaacctacaagctggctgagaacatc
gatgcacagctcaagcgcatggcccaggatctcaaggacatcatcgagcacctgaacacg
tccggggcccccgccgacaccagtgacccactgcagcagatctgcaagatcctcaatgcg
cacatggactcactgcagtggatcgaccagaactcggccctgctgcagaggaaggtggag
gaggtgaccaaggtgtgcgagggccggcgcaaggagcaggagcgcagcttccggatcacc
tttgactga

KEGG   Homo sapiens (human): 9818
Entry
9818              CDS       T01001                                 

Symbol
NUP58, NUP45, NUPL1, PRO2463
Name
(RefSeq) nucleoporin 58
  KO
K14307  nucleoporin p58/p45
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    9818 (NUP58)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9818 (NUP58)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    9818 (NUP58)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     9818 (NUP58)
SSDB
Motif
Pfam: Nucleoporin_FG2 PSY3 NAM-associated
Other DBs
NCBI-GeneID: 9818
NCBI-ProteinID: NP_054808
OMIM: 607615
HGNC: 20261
Ensembl: ENSG00000139496
Vega: OTTHUMG00000016608
Pharos: Q9BVL2(Tdark)
UniProt: Q9BVL2
Structure
LinkDB
Position
13:25301084..25349795
AA seq 599 aa
MSTGFSFGSGTLGSTTVAAGGTSTGGVFSFGTGASSNPSVGLNFGNLGSTSTPATTSAPS
SGFGTGLFGSKPATGFTLGGTNTGIATTITTGLTLGTPATTSAATTGFSLGFNKPAASAT
PFALPITSTSASGLTLSSALTSTPAASTGFTLNNLGGTTATTTTASTGLSLGGALAGLGG
SLFQSTNTGTSGLGQNALGLTLGTTAATSTAGNEGLGGIDFSSSSDKKSDKTGTRPEDSK
ALKDENLPPVICQDVENLQKFVKEQKQVQEEISRMSSKAMLKVQEDIKALKQLLSLAANG
IQRNTLNIDKLKIETAQELKNAEIALRTQKTPPGLQHEYAAPADYFRILVQQFEVQLQQY
RQQIEELENHLATQANNSHITPQDLSMAMQKIYQTFVALAAQLQSIHENVKVLKEQYLGY
RKMFLGDAVDVFETRRAEAKKWQNTPRVTTGPTPFSTMPNAAAVAMAATLTQQQQPATGP
QPSLGVSFGTPFGSGIGTGLQSSGLGSSNLGGFGTSSGFGCSTTGASTFGFGTTNKPSGS
LSAGFGSSSTSGFNFSNPGITASAGLTFGVSNPASAGFGTGGQLLQLKKPPAGNKRGKR
NT seq 1800 nt   +upstreamnt  +downstreamnt
atgtccacagggttctccttcgggtccgggactctgggctccaccaccgtggccgccggc
gggaccagcacaggcggcgttttctccttcggaacgggagcgtctagcaacccttctgtg
gggctcaattttggaaatcttggaagtacttcaactccagcaactacatctgctccttca
agtggttttggaaccgggctctttggatctaaacctgccactgggttcactctaggagga
acaaatacaggaatagcaacaactataactacaggattaactctgggaacgccagccact
acatctgcagctacaacaggcttcagtttaggattcaataaacctgcagcatctgccaca
ccatttgctctacctattacctctacctcagctagcggtctgactctttcgtctgctctg
acatcaactccagcagcatccacaggatttactctaaataatttgggtgggacaacagcc
acaactacaactgcatcaacaggcctctctttagggggagccttagctggtttgggaggt
tcacttttccagagtacaaacacaggaacatcaggacttggacagaatgctttagggttg
actttgggaactacagcagctacttcaactgcaggcaatgaaggccttggtggtatagat
ttcagtagctcctcagataaaaagagtgataaaacgggaacaagaccagaggatagtaaa
gctctgaaggatgaaaatctacctcctgtcatctgccaggatgttgaaaatctccagaaa
tttgtgaaggagcagaaacaagttcaagaagaaattagtagaatgtcttcaaaagcaatg
cttaaggtacaagaagatattaaagctctgaagcagctcctgtcgttggctgccaatgga
atacagagaaacactctcaacattgacaaattgaaaatagaaactgctcaggagttgaag
aatgctgaaatagctttaagaacccagaagacaccacctggacttcaacatgaatatgca
gctcctgctgactacttcagaatcttggttcagcaatttgaggtacagcttcagcagtac
aggcagcagattgaagaactagaaaaccatcttgccactcaagcaaataattcacatata
acccctcaagatttgtcaatggctatgcagaaaatttatcaaacatttgtagctttagcg
gcacaacttcagtctattcatgaaaatgtaaaggttctgaaagaacagtaccttggctac
aggaaaatgttcttgggagatgctgttgatgtgtttgaaacaaggcgagcagaagccaag
aagtggcagaacacacccagagttactactggacccactcctttcagcaccatgccaaac
gcagcagccgttgccatggctgcaacacttacacagcagcaacagcctgctacagggcca
cagccatctctgggagttagttttggaacgccattcggctcaggtattggcactggcttg
caatcaagtggcttaggttcttcaaaccttggaggatttggaactagctctggttttgga
tgcagcaccacaggggcctccacatttggatttggaacaacaaataaaccctcaggaagt
cttagtgcaggctttggcagctcaagtacatctgggtttaacttcagcaatcctggcatc
acggcatcagctggtttgacttttggggtgtccaatcctgcctctgcaggttttggaaca
ggaggacaactccttcagttgaagaaacctccagctggaaacaaaagaggaaaaagataa

KEGG   Homo sapiens (human): 53371
Entry
53371             CDS       T01001                                 

Symbol
NUP54
Name
(RefSeq) nucleoporin 54
  KO
K14308  nuclear pore complex protein Nup54
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    53371 (NUP54)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    53371 (NUP54)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    53371 (NUP54)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     53371 (NUP54)
SSDB
Motif
Pfam: Nup54 Nup54_C XhlA FAST_2
Other DBs
NCBI-GeneID: 53371
NCBI-ProteinID: NP_059122
OMIM: 607607
HGNC: 17359
Ensembl: ENSG00000138750
Vega: OTTHUMG00000130098
Pharos: Q7Z3B4(Tdark)
UniProt: Q7Z3B4
Structure
LinkDB
Position
4:complement(76114664..76148434)
AA seq 507 aa
MAFNFGAPSGTSGTAAATAAPAGGFGGFGTTSTTAGSAFSFSAPTNTGTTGLFGGTQNKG
FGFGTGFGTTTGTSTGLGTGLGTGLGFGGFNTQQQQQTTLGGLFSQPTQAPTQSNQLINT
ASALSAPTLLGDERDAILAKWNQLQAFWGTGKGYFNNNIPPVEFTQENPFCRFKAVGYSC
MPSNKDEDGLVVLVFNKKETEIRSQQQQLVESLHKVLGGNQTLTVNVEGTKTLPDDQTEV
VIYVVERSPNGTSRRVPATTLYAHFEQANIKTQLQQLGVTLSMTRTELSPAQIKQLLQNP
PAGVDPIIWEQAKVDNPDSEKLIPVPMVGFKELLRRLKVQDQMTKQHQTRLDIISEDISE
LQKNQTTSVAKIAQYKRKLMDLSHRTLQVLIKQEIQRKSGYAIQADEEQLRVQLDTIQGE
LNAPTQFKGRLNELMSQIRMQNHFGAVRSEERYYIDADLLREIKQHLKQQQEGLSHLISI
IKDDLEDIKLVEHGLNETIHIRGGVFS
NT seq 1524 nt   +upstreamnt  +downstreamnt
atggccttcaattttggggctccctcgggcacctccggtaccgctgcagccaccgcggcc
cccgcgggtgggtttggaggatttgggacaacatctacaactgcaggttctgcattcagc
ttttctgccccaactaacacaggcactactggactctttggtggtactcagaacaaaggt
tttggatttggtactggttttggcacaacaacgggaactagtactggtttaggtactggt
ttgggaactggactgggatttggaggatttaatacacagcagcagcagcaaactacatta
ggtggtctcttcagtcagcctacacaagctcctacccagtccaaccagctgataaatact
gcgagtgctctttctgctccaacgctgttgggagatgagagagatgctattttggcaaaa
tggaatcaactgcaggccttttggggaacaggaaaagggtatttcaacaataatattccg
ccagtggaattcacacaagaaaatcccttttgccgatttaaggcagtaggttatagttgc
atgcccagtaataaagatgaagatgggctagtggttttagttttcaacaaaaaagaaaca
gagattcgaagccaacaacaacagttggtagaatcattgcataaagttttgggaggaaac
cagacccttactgtaaatgtagagggcactaaaacattgccagatgatcagacagaagtt
gttatttatgttgttgagcgttcgccaaatggtacttcaagaagagttccagctacaacg
ctatatgcccattttgaacaagccaatataaaaacacaattgcagcaacttggtgtaacc
ctttctatgactagaacagaactttctcctgcacagatcaaacagcttttacagaatcct
cctgctggtgttgatcctattatctgggaacaggccaaggtagataaccctgattctgaa
aagttaattcctgtaccaatggtgggttttaaggaacttctccgaagactgaaggttcaa
gatcagatgactaagcagcatcaaaccagattagatatcatatctgaagatattagtgag
ctacaaaagaatcaaactacatctgtagccaaaattgcacaatacaagaggaaactcatg
gatctttcccatagaactttacaggtcctaatcaaacaggaaattcaaaggaagagtggt
tatgccattcaggctgatgaagagcagttgcgagttcagctggatacgattcagggtgaa
ctaaatgcacctactcagttcaagggccgactaaatgaattgatgtctcaaatcaggatg
cagaatcattttggagcagtcagatctgaagaaaggtattacatagatgcagatctgtta
cgagaaatcaagcagcatttgaaacaacaacaggaaggccttagccatttgattagcatc
attaaagacgatctagaagatataaagctggtcgaacatggattgaatgaaaccatccac
atcagaggtggtgtctttagttga

KEGG   Homo sapiens (human): 9688
Entry
9688              CDS       T01001                                 

Symbol
NUP93, NIC96
Name
(RefSeq) nucleoporin 93
  KO
K14309  nuclear pore complex protein Nup93
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    9688 (NUP93)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9688 (NUP93)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    9688 (NUP93)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     9688 (NUP93)
SSDB
Motif
Pfam: Nic96 Nup84_Nup100 Clathrin
Other DBs
NCBI-GeneID: 9688
NCBI-ProteinID: NP_055484
OMIM: 614351
HGNC: 28958
Ensembl: ENSG00000102900
Vega: OTTHUMG00000133278
Pharos: Q8N1F7(Tbio)
UniProt: Q8N1F7
Structure
LinkDB
Position
16:56730129..56850286
AA seq 819 aa
MDTEGFGELLQQAEQLAAETEGISELPHVERNLQEIQQAGERLRSRTLTRTSQETADVKA
SVLLGSRGLDISHISQRLESLSAATTFEPLEPVKDTDIQGFLKNEKDNALLSAIEESRKR
TFGMAEEYHRESMLVEWEQVKQRILHTLLASGEDALDFTQESEPSYISDVGPPGRSSLDN
IEMAYARQIYIYNEKIVNGHLQPNLVDLCASVAELDDKSISDMWTMVKQMTDVLLTPATD
ALKNRSSVEVRMEFVRQALAYLEQSYKNYTLVTVFGNLHQAQLGGVPGTYQLVRSFLNIK
LPAPLPGLQDGEVEGHPVWALIYYCMRCGDLLAASQVVNRAQHQLGEFKTWFQEYMNSKD
RRLSPATENKLRLHYRRALRNNTDPYKRAVYCIIGRCDVTDNQSEVADKTEDYLWLKLNQ
VCFDDDGTSSPQDRLTLSQFQKQLLEDYGESHFTVNQQPFLYFQVLFLTAQFEAAVAFLF
RMERLRCHAVHVALVLFELKLLLKSSGQSAQLLSHEPGDPPCLRRLNFVRLLMLYTRKFE
STDPREALQYFYFLRDEKDSQGENMFLRCVSELVIESREFDMILGKLENDGSRKPGVIDK
FTSDTKPIINKVASVAENKGLFEEAAKLYDLAKNADKVLELMNKLLSPVVPQISAPQSNK
ERLKNMALSIAERYRAQGISANKFVDSTFYLLLDLITFFDEYHSGHIDRAFDIIERLKLV
PLNQESVEERVAAFRNFSDEIRHNLSEVLLATMNILFTQFKRLKGTSPSSSSRPQRVIED
RDSQLRSQARTLITFAGMIPYRTSGDTNARLVQMEVLMN
NT seq 2460 nt   +upstreamnt  +downstreamnt
atggatactgaggggtttggtgagctccttcagcaagctgaacagcttgctgctgagact
gagggcatctcagagcttccccatgtggaacggaacttacaggagatccagcaggcggga
gagcgcctgcgttcccgtaccctaacacgcacgtcccaggagacggcagatgtcaaggcg
tcagttctcctcgggtctcggggacttgacatatcccacatctcccagcgattggagagt
ctgagtgcagccaccacctttgagcctcttgagcctgtgaaggacactgacattcagggc
ttcctgaagaatgagaaggacaatgccctgctgtctgccatcgaagagtcccggaagagg
accttcggcatggctgaggagtaccatcgggagtcaatgttggttgagtgggagcaagtg
aaacagcgaattctgcacacactgctggcatcaggagaagacgcccttgactttactcaa
gaaagcgagccaagctacatcagtgatgtgggaccccctggtcgaagctctctggataac
atcgagatggcctatgcgcggcaaatttatatctataatgagaaaattgtaaatggacac
ctgcagcctaacctggtggacctttgtgcttccgtcgcagagctcgatgataagagcatt
tccgacatgtggaccatggtaaaacaaatgacagacgtgttgttgacaccggcaacggat
gccctgaagaaccgcagcagcgtggaagtgcgcatggagtttgtcaggcaggccttggcg
taccttgagcagagttataagaattacacccttgtgactgtctttggaaatttgcatcag
gcccagctgggcggggtgcctgggacttaccaattggttcgaagtttcctgaacattaaa
ctgccagctcccttgcctggactacaggatggagaggtggaaggccatcctgtgtgggcg
ctaatttactactgcatgcgctgtggagacctgcttgccgcttcacaggtagttaatcga
gcccagcaccagctgggagagtttaaaacctggttccaggagtacatgaacagcaaggac
agaagattgtccccagctacggaaaacaagctccggctgcattaccgtagggccctcagg
aacaatacagatccctacaagcgggccgtgtactgtatcattggcagatgtgacgtcacc
gacaaccagagtgaagtggcggacaaaactgaggattacctgtggctgaagttgaaccaa
gtgtgttttgacgacgatggcaccagctccccacaagacaggctcactctctcacagttc
cagaagcagttgttggaagactatggcgagtcccactttacggtgaaccagcaacccttc
ctctacttccaagtcctgttcctgacagcgcagtttgaagcagcagttgcctttcttttc
cgcatggagcggctgcgctgccatgctgtccatgtagcactggtgctgtttgagctgaag
ctgcttttaaagtcctctggacagagtgctcagctcctcagccacgagcctggtgaccct
ccttgcttgcggcggctgaacttcgtgcggctcctcatgctgtacacccggaagtttgag
tccacggacccaagggaggccctccagtacttctatttcctcagggatgagaaagatagt
caaggagaaaacatgtttctgcgctgtgtgagtgagcttgtgattgaaagccgagagttc
gatatgattcttgggaaactagagaatgacggaagtagaaagcctggagtcatagataag
tttactagtgacacaaagcctattatcaacaaagttgcttctgtggcagaaaataaagga
ctgtttgaagaggcagcaaagctgtatgaccttgccaagaatgctgacaaggtactggag
ctgatgaacaaactgctgagccctgtcgtcccccagatcagtgccccgcaatccaacaag
gagaggctgaagaacatggcactctccattgccgaacggtatagggctcaaggaataagc
gcaaataaatttgtggactccacgttctatcttcttttggacttgatcaccttttttgac
gagtatcatagtggtcatattgatagagcttttgatatcattgagcgcttgaagctggtg
cccctgaatcaggaaagtgtggaagagagagtggctgccttcagaaatttcagtgatgaa
atcaggcacaacctctcagaagtgcttcttgccaccatgaacatcttgttcacacagttt
aagaggctcaaggggacaagtccatcctcgtcatccaggccccagcgagtcatcgaggac
cgcgactctcaactccgaagtcaagcccgcactctgattacctttgctggaatgatacca
taccgaacgtctggggacaccaatgcgaggctggtgcagatggaggtcctcatgaattaa

KEGG   Homo sapiens (human): 23165
Entry
23165             CDS       T01001                                 

Symbol
NUP205, C7orf14, NPHS13
Name
(RefSeq) nucleoporin 205
  KO
K14310  nuclear pore complex protein Nup205
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H01657  Nephrotic syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    23165 (NUP205)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23165 (NUP205)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23165 (NUP205)
   03036 Chromosome and associated proteins [BR:hsa03036]
    23165 (NUP205)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     23165 (NUP205)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Spindle formation proteins
    23165 (NUP205)
SSDB
Motif
Pfam: Nup192
Other DBs
NCBI-GeneID: 23165
NCBI-ProteinID: NP_055950
OMIM: 614352
HGNC: 18658
Ensembl: ENSG00000155561
Vega: OTTHUMG00000155497
Pharos: Q92621(Tbio)
UniProt: Q92621
Structure
LinkDB
Position
7:135557917..135648753
AA seq 2012 aa
MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKN
VQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGELAAVELLLAGEHQQP
HFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQ
GLTYKVLTLVSQIDVNNEFEKLQRERGLGSEKHRKEVSDLIKECRQSLAESLFAWACQSP
LGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPL
LTEKQYIATIHSRLQDSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMA
ELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYL
GVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQCAHYCFSLLKVNGSS
HVENIQGAGGSPVSWEHFFHSLMLYHEHLRKDLPSADSVQYRHLPSRGITQKEQDGLIAF
LQLTSTIITWSENARLALCEHPQWTPVVVILGLLQCSIPPVLKAELLKTLAAFGKSPEIA
ASLWQSLEYTQILQTVRIPSQRQAIGIEVELNEIESRCEEYPLTRAFCQLISTLVESSFP
SNLGAGLRPPGFDPYLQFLRDSVFLRFRTRAYRRAAEKWEVAEVVLEVFYKLLRDYEPQL
EDFVDQFVELQGEEIIAYKPPGFSLMYHLLNESPMLELALSLLEEGVKQLDTYAPFPGKK
HLEKAVQHCLALLNLTLQKENLFMDLLRESQLALIVCPLEQLLQGINPRTKKADNVVNIA
RYLYHGNTNPELAFESAKILCCISCNSNIQIKLVGDFTHDQSISQKLMAGFVECLDCEDA
EEFVRLEEGSELEKKLVAIRHETRIHILNLLITSLECNPPNLALYLLGFELKKPVSTTNL
QDPGVLGCPRTCLHAILNILEKGTEGRTGPVAVRESPQLAELCYQVIYQLCACSDTSGPT
MRYLRTSQDFLFSQLQYLPFSNKEYEISMLNQMSWLMKTASIELRVTSLNRQRSHTQRLL
HLLLDDMPVKPYSDGEGGIEDENRSVSGFLHFDTATKVRRKILNILDSIDFSQEIPEPLQ
LDFFDRAQIEQVIANCEHKNLRGQTVCNVKLLHRVLVAEVNALQGMAAIGQRPLLMEEIS
TVLQYVVGRNKLLQCLHAKRHALESWRQLVEIILTACPQDLIQAEDRQLIIRDILQDVHD
KILDDEAAQELMPVVAGAVFTLTAHLSQAVLTEQKETSVLGPAEAHYAFMLDSCFTSPPP
EENPLVGFASIGDSSLYIILKKLLDFILKTGGGFQRVRTHLYGSLLYYLQIAQRPDEPDT
LEAAKKTMWERLTAPEDVFSKLQRENIAIIESYGAALMEVVCRDACDGHEIGRMLALALL
DRIVSVDKQQQWLLYLSNSGYLKVLVDSLVEDDRTLQSLLTPQPPLLKALYTYESKMAFL
TRVAKIQQGALELLRSGVIVRLAQCQVYDMRPETDPQSMFGMRDPPMFIPTPVDRYRQIL
LPALQLCQVILTSSMAQHLQAAGQVLQFLISHSDTIQAILRCQDVSAGSLQELALLTGII
SKAALPGILSELDVDVNEGSLMELQGHIGRFQRQCLGLLSRFGGSDRLRQFKFQDDNVEG
DKVSKKDEIELAMQQICANVMEYCQSLMLQSSPTFQHAVCLFTPSLSETVNRDGPRQDTQ
APVVPYWRLPGLGIIIYLLKQSANDFFSYYDSHRQSVSKLQNVEQLPPDEIKELCQSVMP
AGVDKISTAQKYVLARRRLVKVINNRAKLLSLCSFIIETCLFILWRHLEYYLLHCMPTDS
QDSLFASRTLFKSRRLQDSFASETNLDFRSGLAIVSQHDLDQLQADAINAFGESLQKKLL
DIEGLYSKVRSRYSFIQALVRRIRGLLRISRN
NT seq 6039 nt   +upstreamnt  +downstreamnt
atggcgacgcctttggcggtaaattcggctgctagtctatggggtccttacaaagacatt
tggcataaagtgggaaatgctctttggagaagacaacctgaagctgttcaccttcttgat
aagattttgaagaaacacaaacctgacttcatctcattgttcaaaaatccgccaaaaaat
gttcaacagcatgagaaggttcagaaagccagtacagagggagtcgccattcagggtcaa
cagggaactcgacttcttcctgaacagctcattaaagaagcctttattctcagtgacctt
tttgatattggagaattggcagctgttgagcttcttcttgctggagagcatcaacagcca
cattttcctggccttaccagaggattagtagctgttcttctgtactgggatggaaagcga
tgcattgcgaattccttgaaagccttgatacagtctagacggggaaagacatggacccta
gaactcagtccagagctggcttccatgacaacacgctttacagatgagctgatggagcaa
ggattgacttataaagttcttacgctggtgtcacagattgatgtgaataatgagtttgag
aaactacagcgagagagaggtttgggcagtgaaaaacatcgcaaagaggtttctgatctc
attaaggagtgcaggcagtctcttgcagaaagcctttttgcctgggcttgccagtcacct
ttaggcaaagaagacactctcctcctcattggacatttggaaagagtgacagttgaggct
aatggctcactggatgcagtgaatctggctcttcttatggcgcttctatactgttttgat
atcagttttatagagcaaagcacagaggaacgagatgatatgattcatcaacttccactg
ttgacagaaaaacagtacattgcaacaattcactctcgtcttcaggactcacagctttgg
aaactgcctgggctccaagccactgttagacttgcctgggcgctggcattgaggggaata
tcccagctacctgatgtgacagctctggcagaattcacagaggcagatgaagcaatggca
gaactcgcaattgctgacaacgttttcctgttcctcatggaatctgtagtggtatcagaa
tacttttatcaggaagaattttatattcgcagagtccataatctcatcacagatttcctt
gcacttatgccaatgaaggtgaaacagctgaggaatcgggcagatgaagatgctcgaatg
attcacatgagtatgcagatgggtaatgaaccccccatttcacttagaagggacctggaa
cacttaatgcttttgattggcgagctatataaaaagaacccttttcatctggagcttgct
ctagaatattggtgtcccacagagcctcttcagactccgactatcatgggctcttatcta
ggggtggctcatcagcggccccctcaacgccaggttgtcttgtcaaagtttgttaggcaa
atgggtgacctgttgcctccaactatttatattccttatttgaagatgctccagggattg
gccaatgggcctcagtgtgcccactactgtttcagcctgctcaaagtcaatggtagtagt
catgttgaaaatattcagggagcaggtggcagtcctgtttcctgggaacatttctttcac
tccttgatgctttaccacgaacaccttcggaaggatcttccaagtgcagatagtgtccag
taccgtcaccttccttcccgtggcatcacccagaaggagcaagatggattgattgctttt
ttgcagctcacgtctaccatcattacttggagtgaaaatgctcgcttggcactctgtgaa
caccctcagtggacccctgttgtggtgattctgggactcctccaatgcagtattccccct
gtcctaaaagctgagctactgaagacactcgcagcttttggaaaatctcctgaaattgct
gcttccctctggcagtcattggaatacactcagatactgcagaccgtgaggattccaagc
caaaggcaagctattggtattgaggttgaactaaatgaaatagaatcccggtgtgaagaa
tacccattgactcgggccttttgccagcttattagtactctggtggagagctcatttcct
tctaatttgggtgctggactgcggccccctggctttgacccttatttgcagttccttaga
gactctgtgtttctacgattccgtacaagagcttaccggagagcagctgaaaagtgggaa
gttgctgaggtggttttggaggtgttttataaattgctcagagattatgagcctcagctt
gaagattttgtagaccagtttgtggaactacaaggagaagaaatcatagcctataagcca
cctggatttagtctgatgtatcatctgctgaatgagtcaccaatgttggagcttgctctc
agtttactggaagaaggagttaagcagcttgacacctatgccccctttcctgggaaaaaa
cacctggagaaagcagtacagcattgccttgcacttctcaatcttactctgcaaaaggaa
aatctttttatggaccttctaagagagagtcaactggctctaatagtctgtcctttagaa
cagcttttgcagggaattaatcccagaactaagaaggcagataatgtggtaaacattgcc
agatacctatatcatggcaatactaatccagaattggcttttgaaagtgccaagatcctc
tgttgtatctcttgcaactctaatattcagataaagttggttggagatttcacacatgac
cagagtataagtcagaaactaatggctggatttgtggagtgtttggattgtgaagatgca
gaagaatttgtacgtctggaagagggatcagaacttgaaaagaaattagttgcaattcgt
catgaaacaagaatccacatcttgaatcttctcattacctctctggaatgcaatccaccc
aatcttgctctctacctgttgggctttgaattgaaaaaacctgtcagtactacaaaccta
caagatccaggagtgttaggttgccctcggacatgccttcacgccattctaaacatcttg
gagaaaggaacggaagggagaacaggcccagtggcggtgcgagaatctcctcagctggct
gagctatgttaccaggtcatatatcagttatgtgcatgctctgatacatctggtcctact
atgaggtacttgagaaccagccaggatttcttattttcccagttgcagtatctaccattt
tctaacaaagaatatgaaatatctatgctgaaccagatgtcatggcttatgaaaactgcc
tcaatagagctaagggtaacctctctgaatcgtcagcggtcacatacccagaggctccta
cacctcttactggatgacatgccagtgaaaccatactcagatggtgaaggaggaatagaa
gatgaaaacaggtctgtttctgggttccttcactttgacactgctacaaaagtacgtcga
aaaattctaaatattcttgactcgattgacttcagtcaggagatccctgagcctttgcag
ttggatttttttgatcgggcccagattgaacaagttattgctaactgtgaacacaagaat
ttacggggacagacagtctgcaatgtcaagcttcttcatagggttcttgtagctgaagta
aatgcccttcagggtatggcagccataggacagagacctctactaatggaggaaatcagc
actgtacttcagtatgtggtaggaagaaataaattgctgcagtgtcttcatgcaaaacgt
catgctctggagtcgtggaggcaactagtagaaattatactgacagcttgtccccaggac
ctcattcaggcagaggatcgacaactgattattcgtgatattttacaagatgtgcatgat
aagatactggatgatgaagctgcgcaagagttaatgcctgtggtcgccggggcagtgttc
acactgactgctcacctaagccaggccgtcctcactgaacagaaggaaacatcagtcttg
ggaccagcagaggcccattacgcttttatgcttgatagttgcttcacctcacctcctcct
gaagagaacccattagtgggttttgcttctattggagattcttcactttacatcatattg
aagaaactgttagacttcattttgaagacaggtggtggattccaacgagtgaggactcac
ttgtatggctctctgctttattacttacagattgcccagagacctgatgaaccagacacc
ttagaagcagccaagaaaaccatgtgggaaaggctgacagcccctgaagatgtatttagc
aaattacagcgagaaaacatagccattattgaaagttatggcgccgccctcatggaagtg
gtctgtcgagatgcttgtgatggtcatgagattggaaggatgctggccctggctctactt
gatagaattgtctccgtggataaacagcagcagtggcttttgtatctttctaacagtggc
tacttgaaggtcctcgtagacagcttggtagaagatgaccgtactttgcagagcttactc
accccacagcctccccttttaaaagcactttatacttatgaatctaaaatggcatttctc
acaagagtggcaaagatacagcagggtgcattagagctgctaagatcaggggtgattgtg
agactagctcaatgccaagtctatgacatgcgcccagaaacggacccgcagagcatgttt
ggcatgagagaccctccaatgttcatccctaccccagtggatcgctaccgccagattctc
ctcccagctctccagctgtgccaggtcatcctcacatctagtatggcccagcacttgcag
gcagcagggcaggtattgcagtttcttatttcacattctgataccatacaagcaattctg
cgctgtcaggatgttagtgctgggtctttgcaggaattggctctgctgacaggaattata
agtaaagcagcacttcctggaatattaagtgaacttgacgttgatgtaaatgaagggtct
ctaatggagctacagggacatattggaagattccagcgccagtgcttaggactactaagt
cgctttggtggctctgacagactgcgtcagtttaaatttcaagacgataatgtggaggga
gataaagtaagcaagaaagatgagattgaactggctatgcagcagatttgtgccaatgta
atggaatattgccagtcactcatgttacagagttcccctaccttccagcatgctgtgtgt
ctcttcactcctagcctttcagaaacagttaatagagatggaccgcggcaagatacccaa
gctccagtggttccatactggcgcctgcctggtttaggcattatcatctacctgctgaaa
cagagtgctaatgatttcttcagctattatgacagtcatcgacagagtgtcagcaagcta
caaaatgtagagcagcttcccccagatgagataaaagagttgtgtcagtctgtgatgcct
gctggtgttgataaaatctccactgctcagaaatatgttctagcaagacggcgcttggtg
aaggtgatcaacaatcgagctaaactgctttccctttgttcttttatcatagagacctgc
ctatttattctttggcgccatctggagtactacttgttacattgcatgcccacggattct
caagattccttatttgcctcgagaaccttgtttaaaagcagaagactgcaagattccttc
gcctcagaaaccaatctagattttagaagtgggctggctatagtgagccaacatgattta
gaccagcttcaggctgatgcaatcaacgcttttggagaatcactacaaaagaaacttctg
gacattgaaggattatattcaaaagttcgatctcgatatagtttcatacaggctcttgtc
agacgtatccgtggcctcttgaggatatcaaggaactga

KEGG   Homo sapiens (human): 23511
Entry
23511             CDS       T01001                                 

Symbol
NUP188, KIAA0169, SANDSTEF, hNup188
Name
(RefSeq) nucleoporin 188
  KO
K14311  nuclear pore complex protein Nup188
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    23511 (NUP188)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23511 (NUP188)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23511 (NUP188)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     23511 (NUP188)
SSDB
Motif
Pfam: Nup188 Gar1
Other DBs
NCBI-GeneID: 23511
NCBI-ProteinID: NP_056169
OMIM: 615587
HGNC: 17859
Ensembl: ENSG00000095319
Vega: OTTHUMG00000020768
Pharos: Q5SRE5(Tbio)
UniProt: Q5SRE5
Structure
LinkDB
Position
9:128947699..129007096
AA seq 1749 aa
MAAAAGGPCVRSSRELWTILLGRSALRELSQIEAELNKHWRRLLEGLSYYKPPSPSSAEK
VKANKDVASPLKELGLRISKFLGLDEEQSVQLLQCYLQEDYRGTRDSVKTVLQDERQSQA
LILKIADYYYEERTCILRCVLHLLTYFQDERHPYRVEYADCVDKLEKELVSKYRQQFEEL
YKTEAPTWETHGNLMTERQVSRWFVQCLREQSMLLEIIFLYYAYFEMAPSDLLVLTKMFK
EQGFGSRQTNRHLVDETMDPFVDRIGYFSALILVEGMDIESLHKCALDDRRELHQFAQDG
LICQDMDCLMLTFGDIPHHAPVLLAWALLRHTLNPEETSSVVRKIGGTAIQLNVFQYLTR
LLQSLASGGNDCTTSTACMCVYGLLSFVLTSLELHTLGNQQDIIDTACEVLADPSLPELF
WGTEPTSGLGIILDSVCGMFPHLLSPLLQLLRALVSGKSTAKKVYSFLDKMSFYNELYKH
KPHDVISHEDGTLWRRQTPKLLYPLGGQTNLRIPQGTVGQVMLDDRAYLVRWEYSYSSWT
LFTCEIEMLLHVVSTADVIQHCQRVKPIIDLVHKVISTDLSIADCLLPITSRIYMLLQRL
TTVISPPVDVIASCVNCLTVLAARNPAKVWTDLRHTGFLPFVAHPVSSLSQMISAEGMNA
GGYGNLLMNSEQPQGEYGVTIAFLRLITTLVKGQLGSTQSQGLVPCVMFVLKEMLPSYHK
WRYNSHGVREQIGCLILELIHAILNLCHETDLHSSHTPSLQFLCICSLAYTEAGQTVINI
MGIGVDTIDMVMAAQPRSDGAEGQGQGQLLIKTVKLAFSVTNNVIRLKPPSNVVSPLEQA
LSQHGAHGNNLIAVLAKYIYHKHDPALPRLAIQLLKRLATVAPMSVYACLGNDAAAIRDA
FLTRLQSKIEDMRIKVMILEFLTVAVETQPGLIELFLNLEVKDGSDGSKEFSLGMWSCLH
AVLELIDSQQQDRYWCPPLLHRAAIAFLHALWQDRRDSAMLVLRTKPKFWENLTSPLFGT
LSPPSETSEPSILETCALIMKIICLEIYYVVKGSLDQSLKDTLKKFSIEKRFAYWSGYVK
SLAVHVAETEGSSCTSLLEYQMLVSAWRMLLIIATTHADIMHLTDSVVRRQLFLDVLDGT
KALLLVPASVNCLRLGSMKCTLLLILLRQWKRELGSVDEILGPLTEILEGVLQADQQLME
KTKAKVFSAFITVLQMKEMKVSDIPQYSQLVLNVCETLQEEVIALFDQTRHSLALGSATE
DKDSMETDDCSRSRHRDQRDGVCVLGLHLAKELCEVDEDGDSWLQVTRRLPILPTLLTTL
EVSLRMKQNLHFTEATLHLLLTLARTQQGATAVAGAGITQSICLPLLSVYQLSTNGTAQT
PSASRKSLDAPSWPGVYRLSMSLMEQLLKTLRYNFLPEALDFVGVHQERTLQCLNAVRTV
QSLACLEEADHTVGFILQLSNFMKEWHFHLPQLMRDIQVNLGYLCQACTSLLHSRKMLQH
YLQNKNGDGLPSAVAQRVQRPPSAASAAPSSSKQPAADTEASEQQALHTVQYGLLKILSK
TLAALRHFTPDVCQILLDQSLDLAEYNFLFALSFTTPTFDSEVAPSFGTLLATVNVALNM
LGELDKKKEPLTQAVGLSTQAEGTRTLKSLLMFTMENCFYLLISQAMRYLRDPAVHPRDK
QRMKQELSSELSTLLSSLSRYFRRGAPSSPATGVLPSPQGKSTSLSKASPESQEPLIQLV
QAFVRHMQR
NT seq 5250 nt   +upstreamnt  +downstreamnt
atggcggcggccgccggcgggccgtgtgtgaggagcagtagagaactgtggactattctg
cttggaaggtcagctctgagagagctgagtcagattgaggcagaactgaataaacattgg
cggcgattgttagaggggctttcttactacaaacctcccagtccaagttcagctgaaaaa
gtgaaagctaataaagatgtagcttcaccattgaaggaactgggtttaagaatcagcaag
tttttgggtcttgatgaagaacagagtgtgcagttactccagtgttacctgcaagaggac
tacaggggtactcgggactcagtaaagacagtactgcaagatgagaggcagagccaggcc
ttaatcctgaagattgcagattattattatgaagaaagaacctgtattcttcgttgtgtc
ttacaccttctcacttacttccaagatgaaagacacccctatagggttgaatatgcagac
tgtgttgataaattggagaaggaactagtttcaaaatacagacagcagttcgaagagctt
tataaaactgaagcaccaacttgggagacacatggaaatctcatgacagagcgccaagtg
tctcgctggtttgttcagtgccttcgggaacagtccatgctgctagaaattattttcctt
tattatgcatactttgagatggcacccagtgacttacttgtattaaccaagatgtttaaa
gagcaaggatttggtagtaggcagaccaataggcacctggtggatgagactatggatcct
tttgtagatcggattggctacttcagtgccctcatcctggtggagggcatggatatcgag
tccttgcataagtgtgctttggatgacagaagagaactgcatcagtttgcgcaggatggg
cttatttgtcaggatatggactgtttaatgttgacctttggggacattccacatcatgcc
ccagtgcttttggcctgggctctcctccgtcacactctgaacccagaagagacaagcagt
gtggtccggaagataggtggcacagccatccagctgaatgtgtttcagtacttgacccga
ttgctccagtcccttgccagtgggggaaatgattgcaccaccagcactgcatgcatgtgt
gtctatggactgctctctttcgttctgacctcgttggagctgcacaccctgggcaatcag
caggatataattgatacagcatgtgaagtattggccgacccttctcttccggaactgttc
tggggaacagagccaacttctggccttgggatcattctggacagtgtgtgtggaatgttt
ccccaccttctctccccactcctgcaactgctccgagccctggtatcagggaagtccaca
gccaaaaaggtgtatagcttcttggataagatgtctttctacaatgaactttataaacac
aagcctcatgatgtgatctcccatgaagatggaactctttggcggagacaaacacccaaa
ctcctttatccccttgggggtcaaaccaaccttcgcatacctcaaggcactgtgggccaa
gtaatgttggatgatagggcatacctggtacgctgggaatactcctatagcagctggacc
ctctttacctgcgagattgaaatgttgcttcatgttgtttcaactgcagatgtgattcag
cactgccagcgagtcaaacccatcattgatctcgtccataaggtcatcagtacagacctg
tcgatagcagactgtctcctgcccatcacatctcgcatctacatgctgctgcagcggtta
acgacagtgatctccccacctgtggatgtcattgcttcttgtgtcaactgcttaactgtt
ttggctgcccgcaatccagcaaaggtctggactgatcttcgtcacacaggttttttacca
tttgtggcccatcctgtctccagcctgagtcagatgattagtgcggaagggatgaatgct
ggagggtacggaaacctcttgatgaacagtgaacagcctcagggcgagtatggggttact
attgcctttctgcgcttgatcaccacccttgtcaaggggcaacttggtagtacccagagc
caaggacttgtaccctgtgtaatgtttgtgctgaaggagatgcttcccagctaccataag
tggcgctacaactctcatggagtgagggaacagattggttgcctgatcttggagctgatt
catgcgatactgaacctgtgccacgagacagacctgcacagcagtcatactcccagcctg
cagtttctctgcatctgcagcctggcatacacagaagcaggacagacagttatcaatatc
atgggcattggcgtggacaccattgacatggtgatggctgctcagcctcgaagtgatggg
gcagagggccaggggcagggccagctgctgatcaagacagtgaaactggcattctccgtc
accaacaatgttattcggctgaaacctccttctaatgtggtgtcccccctggaacaggct
ctctcacaacatggtgctcatggaaacaacctcattgctgttctagccaaatacatctac
cacaaacatgaccctgctttgccacgtcttgccattcagctgctgaaacgtctggccacg
gtggccccaatgtcagtgtatgcttgtctgggcaatgatgcggctgccattcgtgatgcc
ttcctgacccgattgcagagcaaaattgaggacatgcgcatcaaagtcatgattctagag
ttcctcactgttgcagtagagacccagccaggcctcatcgaactgtttctgaacctggaa
gttaaggatggcagtgatggctcaaaggaattcagccttgggatgtggagctgtctccat
gcagtgctggagctgattgattcccaacagcaagatcgatactggtgcccacccctgctg
catcgtgccgccattgcctttttgcatgctctgtggcaggatcggagggacagtgccatg
ctggtcctccgaaccaaacccaagttttgggaaaatttaaccagtccgctgtttggaacc
ctttctcctccctctgaaacatcagagcccagcatcctggaaacctgtgccctaatcatg
aagataatttgcttggagatatactatgtagtaaagggttcattagaccagtcattaaag
gatacactgaagaaattttccatcgagaaacgctttgcctactggtcagggtatgtcaag
tcattggcagttcacgtggccgaaacagaaggcagcagctgcacctccttgttagagtac
cagatgctggtgtccgcctggaggatgcttctcatcattgccaccactcatgcagatata
atgcacctgactgactctgtggtgcgtcgccagctctttcttgacgtgcttgatggaacc
aaagcattactcctagttccagcctcagtgaactgccttcgccttggctccatgaagtgc
actctgctgcttatcctcctccggcagtggaagagagagttaggttctgtggatgaaatc
cttggacccttgacggagatcctggagggagtgctgcaggccgaccagcaactcatggag
aagaccaaggccaaggtgttctcagcattcatcacagtgttgcaaatgaaggagatgaaa
gtaagtgacatcccccagtactcccagctggtgctgaatgtctgtgagaccctccaagag
gaagtgattgcactcttcgaccagacccgccacagtctggcattaggcagtgccacagag
gacaaggacagcatggagactgacgactgttctcggtcccggcacagggaccagcgtgat
ggggtgtgtgtcctgggcctgcacctggccaaggagctgtgtgaggtagacgaggatggt
gactcctggctgcaggtaacccgcaggctccccatcctacccaccctcctcaccactcta
gaggtgagccttcgcatgaagcagaacctgcatttcactgaggccacattgcatctgctc
ctcaccctggctcgcactcagcagggagccacagcagtggctggagctggcatcacccag
agcatttgtttgccccttctgagtgtgtaccagctgagcaccaacggcacagcacagaca
cctagtgcctctcggaagtccctggatgccccctcttggccaggagtctaccgcctgtcc
atgtccctgatggagcagctgctcaaaactctgcgctacaacttcctgcctgaggccctg
gacttcgtgggtgtccaccaggagcggaccttacagtgcctcaacgcagtgaggacagtg
cagagtctggcctgcctggaggaggcggaccacaccgtgggttttattctgcagctctct
aacttcatgaaggagtggcacttccacctgcctcagctcatgcgtgatatccaggtcaac
ctgggttacttgtgccaggcatgtacctctctcctgcacagtcgaaagatgctgcagcat
tacttacagaacaaaaatggggatggcctcccctcagctgttgcccagcgagtccagagg
ccaccgtctgctgcttctgctgccccctcctcctcaaagcagcccgctgctgacacagag
gcatcagagcagcaggccttgcacacagtccagtatggccttctcaagatcctcagcaag
acgctggcagccctgcgccacttcaccccagatgtctgccagattctgctggatcagtcc
ctggaccttgctgaatacaacttcctgtttgccctgagctttaccactcccacctttgac
tccgaagtggccccctccttcgggacccttctggccacagtgaatgtggccctcaacatg
cttggagagctggacaagaaaaaggagcccctcacccaggcagtggggctcagcacacag
gcagaagggaccaggacgttaaagtccctcctgatgtttaccatggaaaactgcttctac
ctgctcatctctcaggcgatgcggtaccttagggacccggctgtgcacccccgggacaaa
cagcggatgaagcaggagctcagctctgagttgagcacgctgctgtccagcctctcgcgc
tacttccgccggggagcccccagctcccctgccactggtgtcctcccctcgccgcagggc
aagtccacctctctctccaaagccagccctgagagtcaggagcctctgatccagttggtg
caggcgtttgtccggcatatgcaaagatag

KEGG   Homo sapiens (human): 9631
Entry
9631              CDS       T01001                                 

Symbol
NUP155, ATFB15, N155
Name
(RefSeq) nucleoporin 155
  KO
K14312  nuclear pore complex protein Nup155
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00731  Atrial fibrillation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    9631 (NUP155)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9631 (NUP155)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    9631 (NUP155)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     9631 (NUP155)
SSDB
Motif
Pfam: Nucleoporin_N Nucleoporin_C Paramyxo_P CagY_I
Other DBs
NCBI-GeneID: 9631
NCBI-ProteinID: NP_705618
OMIM: 606694
HGNC: 8063
Ensembl: ENSG00000113569
Vega: OTTHUMG00000090803
Pharos: O75694(Tbio)
UniProt: O75694 A0A024R071
Structure
LinkDB
Position
5:complement(37288137..37371106)
AA seq 1391 aa
MPSSLLGAAMPASTSAAALQEALENAGRLIDRQLQEDRMYPDLSELLMVSAPNNPTVSGM
SDMDYPLQGPGLLSVPNLPEISSIRRVPLPPELVEQFGHMQCNCMMGVFPPISRAWLTID
SDIFMWNYEDGGDLAYFDGLSETILAVGLVKPKAGIFQPHVRHLLVLATPVDIVILGLSY
ANLQTGSGVLNDSLSGGMQLLPDPLYSLPTDNTYLLTITSTDNGRIFLAGKDGCLYEVAY
QAEAGWFSQRCRKINHSKSSLSFLVPSLLQFTFSEDDPILQIAIDNSRNILYTRSEKGVI
QVYDLGQDGQGMSRVASVSQNAIVSAAGNIARTIDRSVFKPIVQIAVIENSESLDCQLLA
VTHAGVRLYFSTCPFRQPLARPNTLTLVHVRLPPGFSASSTVEKPSKVHRALYSKGILLM
AASENEDNDILWCVNHDTFPFQKPMMETQMTAGVDGHSWALSAIDELKVDKIITPLNKDH
IPITDSPVVVQQHMLPPKKFVLLSAQGSLMFHKLRPVDQLRHLLVSNVGGDGEEIERFFK
LHQEDQACATCLILACSTAACDREVSAWATRAFFRYGGEAQMRFPTTLPPPSNVGPILGS
PVYSSSPVPSGSPYPNPSFLGTPSHGIQPPAMSTPVCALGNPATQATNMSCVTGPEIVYS
GKHNGICIYFSRIMGNIWDASLVVERIFKSGNREITAIESSVPCQLLESVLQELKGLQEF
LDRNSQFAGGPLGNPNTTAKVQQRLIGFMRPENGNPQQMQQELQRKFHEAQLSEKISLQA
IQQLVRKSYQALALWKLLCEHQFTIIVAELQKELQEQLKITTFKDLVIRDKELTGALIAS
LINCYIRDNAAVDGISLHLQDICPLLYSTDDAICSKANELLQRSRQVQNKTEKERMLRES
LKEYQKISNQVDLSNVCAQYRQVRFYEGVVELSLTAAEKKDPQGLGLHFYKHGEPEEDIV
GLQAFQERLNSYKCITDTLQELVNQSKAAPQSPSVPKKPGPPVLSSDPNMLSNEEAGHHF
EQMLKLSQRSKDELFSIALYNWLIQVDLADKLLQVASPFLEPHLVRMAKVDQNRVRYMDL
LWRYYEKNRSFSNAARVLSRLADMHSTEISLQQRLEYIARAILSAKSSTAISSIAADGEF
LHELEEKMEVARIQLQIQETLQRQYSHHSSVQDAVSQLDSELMDITKLYGEFADPFKLAE
CKLAIIHCAGYSDPILVQTLWQDIIEKELSDSVTLSSSDRMHALSLKIVLLGKIYAGTPR
FFPLDFIVQFLEQQVCTLNWDVGFVIQTMNEIGVPLPRLLEVYDQLFKSRDPFWNRMKKP
LHLLDCIHVLLIRYVENPSQVLNCERRRFTNLCLDAVCGYLVELQSMSSSVAVQAITGNF
KSLQAKLERLH
NT seq 4176 nt   +upstreamnt  +downstreamnt
atgccgtcttctttgttgggcgcggcgatgccggcctctacatctgccgcagccctgcag
gaagctctggaaaatgctggacggctcatcgaccgtcagttgcaagaggaccgcatgtac
ccggacctttccgagctgcttatggtgtctgccccaaataatcccaccgtttctggcatg
tcagatatggattatcctttgcaaggacctggtttgctgtccgtacccaaccttccagag
atcagttccatccgaagagttcctctcccacctgaacttgttgagcagtttggacatatg
cagtgtaattgcatgatgggtgtgttccctcctatcagcagagcttggctcacaattgac
agtgatatattcatgtggaactatgaggatggaggagaccttgcctattttgatggactt
agtgagactattcttgctgtggggcttgtgaagccaaaagcaggcatctttcaacctcat
gtgcgacacctcctggttttggcgacccctgtagacatagtaattcttggactcagctat
gctaatttgcaaacaggttctggagttcttaatgatagtttgtctggtggaatgcagttg
cttccagatcctttatattctcttcctactgataatacttaccttttaacaataacttcc
actgataatggcagaattttcttggctggaaaggatggctgtttatatgaagtagcctac
caggctgaagcagggtggtttagccaaagatgtaggaaaataaaccactcaaagagctca
ctttctttccttgttccttccttgctacaattcacgttctcagaagatgatcctattctt
caaattgcaattgataattctagaaatattttatatacacgatctgagaaaggagtaata
caggtgtatgatttgggacaagatggacaaggaatgagcagagttgcctctgtgtcacag
aatgccattgtctctgctgctggtaacattgctaggaccatcgatcgttctgtttttaaa
ccaattgtccaaatagcagtgattgaaaattctgaatcactggactgtcagttattggct
gtcacacatgcaggtgttaggttatattttagcacttgtccattcagacagccattagca
cggcctaatacactgacgctggttcatgtccgcttacctcctggattctcagcatcttca
accgtggaaaagccttcaaaagtacatagagctctttatagtaaaggtattctattgatg
gcagcctcagaaaatgaggataatgatattttatggtgtgtcaaccatgatacttttcct
ttccaaaagccaatgatggaaacccagatgacagctggtgttgatggtcattcctgggct
ctttctgcgatagatgaattgaaagtagataaaataattacacctttaaacaaggatcat
attccaataactgattcaccagttgttgtacagcagcacatgttacctccgaagaaattt
gttctcctctcagcacaggggagccttatgtttcataaacttagacctgtagatcaactg
aggcatctacttgtgagtaatgtgggaggagatggagaagagattgaaagattctttaaa
ttacatcaggaagaccaggcttgtgcaacttgccttattcttgcttgctccactgctgcc
tgtgatagagaagtatctgcctgggctactcgggctttctttaggtatggtggtgaagca
cagatgagatttccaaccactcttccgcctccaagtaatgttggtcccatcttggggtct
cctgtctattctagttctcctgttcctagtggtagtccctatccaaatccatcctttttg
ggaacaccgtctcatggtatacagcctcctgccatgtcaactccagtgtgtgctctggga
aacccagcaactcaggccacaaatatgagttgtgtgactggaccagagattgtgtactct
ggaaaacacaatggtatttgcatttacttttctcggatcatgggaaacatttgggatgca
agcttagttgtggagagaatattcaagagtggcaacagagagatcactgcaattgaaagt
agtgttccctgccaactgctagagtcagtgctacaagaactaaagggtttgcaggaattt
ctagacagaaactcccagtttgcaggaggaccattaggaaatccaaatactactgctaaa
gtgcagcagaggctgataggattcatgcgtcctgaaaacggaaatccccagcaaatgcaa
caggaactgcagaggaagtttcatgaggctcaactaagtgaaaagatttcacttcaggca
attcagcagttggttcgaaaatcatatcaggctctggctttatggaaacttctttgtgaa
catcaattcactatcattgtggcagaacttcagaaggaacttcaagagcagctgaagatc
accacctttaaagatcttgtaatcagggacaaagaactcacaggggcattaattgcttct
cttatcaactgctacatcagagataatgccgctgttgatggcattagtttacatttacag
gatatctgcccacttctatatagcactgatgatgcaatttgttctaaggcaaatgagctt
ctccagcgttcccgacaagttcaaaataagactgaaaaagaaagaatgttaagggaatca
ttaaaggaatatcaaaaaattagcaatcaagtggacctttccaatgtttgtgctcagtat
agacaagtgagattttatgagggtgtggtggaactttctcttacggctgcagagaaaaaa
gatcctcaaggtcttgggcttcatttctataaacatggagaaccagaagaagacatagtt
ggacttcaggccttccaagaaagattaaacagttacaaatgcattacagacacacttcaa
gaactggtaaatcaaagtaaggccgctcctcagtctcccagtgtacccaaaaaacctggt
cctccagtgttgtcatctgatccaaatatgctgagtaatgaagaagcaggacatcatttt
gaacaaatgcttaaattgtcacagcgatccaaggatgagctctttagtattgccctttat
aattggctaatacaagtcgaccttgcagataagctgctacaggttgcttctccatttctg
gagccacatctagtccgaatggccaaagttgatcaaaacagagttcgttatatggattta
ctctggcggtattacgagaagaacagaagtttcagtaatgctgctcgtgtactgtccaga
ctggctgacatgcatagcacagaaatttcacttcagcagcgactagagtacattgctcga
gccattcttagtgccaaaagttccactgccatttcatcaatagctgccgatggtgaattt
cttcatgaattagaagaaaaaatggaggttgctaggatccaacttcagatacaggagaca
ctacaaaggcagtattcccatcattcttctgtacaggatgcagtttctcagctggattct
gagctgatggacataactaagctttatggggaatttgctgacccatttaaacttgcagag
tgcaaacttgcaataattcattgtgccggttattcagaccctatattggtgcagacactt
tggcaagatatcatagagaaagaattgagtgacagtgtgacattgagctcctcggataga
atgcatgctcttagtctcaagattgttctccttggcaaaatttatgctggcacaccacgc
ttctttcctttagattttattgtacagtttttagaacagcaggtttgtactttgaactgg
gatgtgggcttcgtaatacagacaatgaatgaaattggagtaccattacctagactacta
gaagtttatgatcagttgttcaaatcacgggatccattctggaacagaatgaagaagcca
ctgcaccttttggattgtatacatgtattattgataagatatgttgagaatcccagccaa
gttttaaattgtgaaaggagaagatttacaaatctctgcctggatgctgtttgtggttac
cttgttgagctccagtctatgagctcgtcagtagcagtacaagccatcactgggaatttt
aaatctcttcaagctaaattagaacggcttcattaa

KEGG   Homo sapiens (human): 129401
Entry
129401            CDS       T01001                                 

Symbol
NUP35, MP-44, MP44, NP44, NUP53
Name
(RefSeq) nucleoporin 35
  KO
K14313  nuclear pore complex protein Nup53
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    129401 (NUP35)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    129401 (NUP35)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    129401 (NUP35)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     129401 (NUP35)
SSDB
Motif
Pfam: Nup35_RRM Nup35_RRM_2
Other DBs
NCBI-GeneID: 129401
NCBI-ProteinID: NP_612142
OMIM: 608140
HGNC: 29797
Ensembl: ENSG00000163002
Vega: OTTHUMG00000132621
Pharos: Q8NFH5(Tbio)
UniProt: Q8NFH5
Structure
LinkDB
Position
2:183117480..183161680
AA seq 326 aa
MAAFAVEPQGPALGSEPMMLGSPTSPKPGVNAQFLPGFLMGDLPAPVTPQPRSISGPSVG
VMEMRSPLLAGGSPPQPVVPAHKDKSGAPPVRSIYDDISSPGLGSTPLTSRRQPNISVMQ
SPLVGVTSTPGTGQSMFSPASIGQPRKTTLSPAQLDPFYTQGDSLTSEDHLDDSWVTVFG
FPQASASYILLQFAQYGNILKHVMSNTGNWMHIRYQSKLQARKALSKDGRIFGESIMIGV
KPCIDKSVMESSDRCALSSPSLAFTPPIKTLGTPTQPGSTPRISTMRPLATAYKASTSDY
QVISDRQTPKKDESLVSKAMEYMFGW
NT seq 981 nt   +upstreamnt  +downstreamnt
atggcagcctttgcagtggaacctcaggggcccgcgttaggatctgaaccaatgatgctg
ggttcacccacatctccaaagccaggagttaatgcccagttcttacctggatttttaatg
ggggatttgccagctccggtgactccacaacctcgatcaattagtggcccttcagtagga
gtaatggaaatgagatcacctttacttgcaggtgggtcaccaccacaaccagttgtacca
gctcataaagataaaagtggcgctccaccagttagaagtatatatgatgacatttctagc
ccaggacttggatcaacacctttaacttcaagaagacagccaaacatttcagtaatgcag
agtcctcttgttggagttacatctactcctggaacagggcaaagtatgtttagtccagca
agtatcggtcagccacgaaagacgacattatctcctgcccagttggatcctttttatact
caaggagattctttgacttcagaagatcacctcgatgactcttgggtgactgtatttggg
tttcctcaagcatctgcttcctacatattactacaatttgcacagtatgggaatatctta
aaacatgtgatgtctaatacaggaaattggatgcatattcgttatcaatctaaactgcag
gctcggaaagccttaagcaaagatgggaggatttttggagaatccatcatgattggtgta
aaaccatgtattgacaaaagtgttatggaaagcagtgacagatgtgctttatcatctcca
tctttagcctttacaccaccaatcaaaactctaggtacaccaacacaacctggaagtact
cctaggatttctaccatgagacctcttgctacagcatacaaagcctctactagtgattat
caggttatttctgacagacaaacgccaaaaaaagatgaaagtcttgtatccaaagcaatg
gagtacatgtttggctggtag

KEGG   Homo sapiens (human): 23225
Entry
23225             CDS       T01001                                 

Symbol
NUP210, GP210, POM210
Name
(RefSeq) nucleoporin 210
  KO
K14314  nuclear pore complex protein Nup210
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    23225 (NUP210)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    23225 (NUP210)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    23225 (NUP210)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     23225 (NUP210)
SSDB
Motif
Pfam: Big_2
Other DBs
NCBI-GeneID: 23225
NCBI-ProteinID: NP_079199
OMIM: 607703
HGNC: 30052
Ensembl: ENSG00000132182
Vega: OTTHUMG00000157268
Pharos: Q8TEM1(Tbio)
UniProt: Q8TEM1
LinkDB
Position
3:complement(13316235..13420322)
AA seq 1887 aa
MAARGRGLLLLTLSVLLAAGPSAAAAKLNIPKVLLPFTRATRVNFTLEASEGCYRWLSTR
PEVASIEPLGLDEQQCSQKAVVQARLTQPARLTSIIFAEDITTGQVLRCDAIVDLIHDIQ
IVSTTRELYLEDSPLELKIQALDSEGNTFSTLAGLVFEWTIVKDSEADRFSDSHNALRIL
TFLESTYIPPSYISEMEKAAKQGDTILVSGMKTGSSKLKARIQEAVYKNVRPAEVRLLIL
ENILLNPAYDVYLMVGTSIHYKVQKIRQGKITELSMPSDQYELQLQNSIPGPEGDPARPV
AVLAQDTSMVTALQLGQSSLVLGHRSIRMQGASRLPNSTIYVVEPGYLGFTVHPGDRWVL
ETGRLYEITIEVFDKFSNKVYVSDNIRIETVLPAEFFEVLSSSQNGSYHRIRALKRGQTA
IDAALTSVVDQDGGVHILQVPVWNQQEVEIHIPITLYPSILTFPWQPKTGAYQYTIRAHG
GSGNFSWSSSSHLVATVTVKGVMTTGSDIGFSVIQAHDVQNPLHFGEMKVYVIEPHSMEF
APCQVEARVGQALELPLRISGLMPGGASEVVTLSDCSHFDLAVEVENQGVFQPLPGRLPP
GSEHCSGIRVKAEAQGSTTLLVSYRHGHVHLSAKITIAAYLPLKAVDPSSVALVTLGSSK
EMLFEGGPRPWILEPSKFFQNVTAEDTDSIGLALFAPHSSRNYQQHWILVTCQALGEQVI
ALSVGNKPSLTNPFPAVEPAVVKFVCAPPSRLTLAPVYTSPQLDMSCPLLQQNKQVVPVS
SHRNPRLDLAAYDQEGRRFDNFSSLSIQWESTRPVLASIEPELPMQLVSQDDESGQKKLH
GLQAILVHEASGTTAITATATGYQESHLSSARTKQPHDPLVPLSASIELILVEDVRVSPE
EVTIYNHPGIQAELRIREGSGYFFLNTSTADVVKVAYQEARGVAMVHPLLPGSSTIMIHD
LCLVFPAPAKAVVYVSDIQELYIRVVDKVEIGKTVKAYVRVLDLHKKPFLAKYFPFMDLK
LRAASPIITLVALDEALDNYTITFLIRGVAIGQTSLTASVTNKAGQRINSAPQQIEVFPP
FRLMPRKVTLLIGATMQVTSEGGPQPQSNILFSISNESVALVSAAGLVQGLAIGNGTVSG
LVQAVDAETGKVVIISQDLVQVEVLLLRAVRIRAPIMRMRTGTQMPIYVTGITNHQNPFS
FGNAVPGLTFHWSVTKRDVLDLRGRHHEASIRLPSQYNFAMNVLGRVKGRTGLRVVVKAV
DPTSGQLYGLARELSDEIQVQVFEKLQLLNPEIEAEQILMSPNSYIKLQTNRDGAASLSY
RVLDGPEKVPVVHVDEKGFLASGSMIGTSTIEVIAQEPFGANQTIIVAVKVSPVSYLRVS
MSPVLHTQNKEALVAVPLGMTVTFTVHFHDNSGDVFHAHSSVLNFATNRDDFVQIGKGPT
NNTCVVRTVSVGLTLLRVWDAEHPGLSDFMPLPVLQAISPELSGAMVVGDVLCLATVLTS
LEGLSGTWSSSANSILHIDPKTGVAVARAVGSVTVYYEVAGHLRTYKEVVVSVPQRIMAR
HLHPIQTSFQEATASKVIVAVGDRSSNLRGECTPTQREVIQALHPETLISCQSQFKPAVF
DFPSQDVFTVEPQFDTALGQYFCSITMHRLTDKQRKHLSMKKTALVVSASLSSSHFSTEQ
VGAEVPFSPGLFADQAEILLSNHYTSSEIRVFGAPEVLENLEVKSGSPAVLAFAKEKSFG
WPSFITYTVGVLDPAAGSQGPLSTTLTFSSPVTNQAIAIPVTVAFVVDRRGPGPYGASLF
QHFLDSYQVMFFTLFALLAGTAVMIIAYHTVCTPRDLAVPAALTPRASPGHSPHYFAASS
PTSPNALPPARKASPPSGLWSPAYASH
NT seq 5664 nt   +upstreamnt  +downstreamnt
atggcggcgcggggccgggggctgctgctgctgacgctgtcggtgctgttggcggcgggc
ccctccgccgctgcggccaagctcaacatccccaaagtgctgctgcccttcacgcgggcc
acgcgcgttaacttcacgctggaggcctcggagggctgctaccgctggttgtccacccgg
ccggaggtggccagcatcgagccgctgggcctggacgagcagcagtgctcccagaaggca
gtggtgcaggcccgcctgacccagcctgcccgcctcaccagcatcatcttcgcagaggac
atcaccacaggccaggtcctgcgctgtgatgccattgtggacctcatccatgacatccag
atcgtctccaccacccgcgagctctacctggaggactcccccctggagctgaagatccag
gccctggactccgaagggaacaccttcagcactctggctggactggtcttcgagtggacg
attgtgaaggactccgaggcggacaggttctcagactcccacaatgcgctgcgaatcctc
actttcttggagtctacgtacatccctccttcttacatctcagagatggagaaggctgcc
aagcaaggggacaccatcctggtgtctgggatgaagaccgggagctccaagctcaaggct
cgcatccaggaggctgtctacaagaatgtacgccctgcagaagtcaggctgctgattttg
gaaaacatccttctgaacccggcctatgacgtctacctgatggtgggaacctccattcac
tacaaggtgcagaagatcaggcaagggaaaattacagaactctccatgccttccgatcag
tacgagttgcagcttcagaacagcatcccgggccccgaaggagacccagcccggccggtg
gctgtcttggcccaggacacgtcgatggtcactgcactgcagctgggacagagcagcctc
gtccttggccacaggagtattcgcatgcaaggtgcttctaggttacccaacagcactatc
tacgtggtcgaacctggatacctagggttcactgttcaccctggtgacaggtgggtgctg
gagaccggccgcctgtatgaaatcaccatcgaagtttttgacaagttcagcaacaaggtc
tatgtatctgacaacatccgaattgaaactgtgcttcctgctgagttcttcgaggtgctc
tcgtcctcccagaatgggtcataccatcgcatcagggcactaaagaggggacagacggcc
attgacgcggccctcacctctgtggtggaccaggatggaggggtccacatactacaggtg
cctgtgtggaaccagcaggaggtggaaattcacatcccgatcaccctgtatcccagcatc
ttgacatttccgtggcaaccaaagacgggcgcctatcagtacacaataagggcccacggt
ggcagtgggaacttcagctggtcttcgtcaagccacctggttgccacagttactgtcaag
ggcgtgatgaccacaggcagtgacatcgggttcagtgtgatccaggcacatgatgtgcag
aacccactccatttcggtgagatgaaggtgtatgtgatcgagccccacagcatggagttt
gccccgtgccaggtggaggcacgtgtgggccaggccctggagctgcccctgaggatcagt
ggcctcatgcccggcggggccagtgaggtggtcaccttgagcgactgctcccactttgac
ttggctgtcgaggtggagaaccagggtgtgttccagccactcccagggaggctgccgcca
ggctctgagcactgcagcggcatccgggtaaaggccgaggcccagggctctaccacgctt
cttgtgagctacagacacggccacgtccacctgagtgccaagatcaccattgctgcctac
ctgcccctcaaggctgtggatccctcctctgttgccttggtaaccctgggctcctcaaag
gagatgctgtttgaaggaggtcccagaccttggatcctcgagccgtccaaattcttccag
aacgtcaccgctgaggacactgacagcatcggcctggctctctttgccccccattcctcc
cggaattatcagcaacactggatccttgtgacctgtcaggccttgggtgagcaggtcatc
gccctgtcggtggggaacaagcccagcctcaccaacccctttcctgcggtggagcctgcc
gtggtgaagttcgtctgcgccccaccgtccaggctcaccctcgcgcctgtctacaccagc
ccccagctggacatgtcctgtccgctgctgcagcagaacaagcaggtggtcccagtgtcc
agccaccgcaacccccggctggacctggctgcttacgaccaggagggccgccggttcgac
aacttcagctctctgagcatccagtgggagtccaccaggccagtgttggccagcatcgag
cctgagctgcccatgcagctggtgtcccaggacgatgagagtggccaaaagaagctgcac
ggtttgcaggccattttggttcacgaggcatcaggaaccacagccatcactgccactgcc
actggctaccaggagtcccacctcagctctgccagaacaaagcagccgcatgaccctctg
gtgcctctgtcggcctccatagagctcatcctggtggaggacgtgagggtgagcccagaa
gaggtgaccatctacaaccaccctggcatccaggcagagctccgcatcagggaaggctca
ggttacttcttcctcaacaccagcaccgcagatgttgtcaaggtggcctaccaggaggcc
aggggtgtcgccatggtgcaccctttgctcccgggctcatccaccatcatgatccatgac
ttgtgcctcgtcttcccggccccagccaaggctgtcgtttacgtgtcggacattcaggag
ctgtacatccgtgtggttgacaaggtggagattgggaagacagtgaaggcatacgtccgc
gtgctggacttgcacaagaagcccttccttgccaaatacttcccctttatggacctgaag
ctccgagcagcctccccgatcattacattggtggcccttgatgaagcccttgacaactac
accatcacattcctcatccgcggtgtggccatcggccagaccagtctaactgcaagtgtg
accaataaagctggacagagaatcaactcagccccacaacagattgaagtctttcccccg
ttcaggctgatgcccaggaaggtgacactgcttatcggggccacgatgcaggtcacctcc
gagggcggcccccagcctcagtccaacatccttttctccatcagcaatgagagcgttgcg
ctggtgagcgctgctgggctggtacagggcctcgccatcgggaacggcactgtgtctggg
ctcgtgcaggcagtggatgcagagaccggcaaggtggtcatcatctctcaggacctcgtg
caggtggaggtgctgctgctaagggccgtgaggatccgcgcccccatcatgcggatgagg
acgggcacccagatgcccatctatgtcaccggcatcaccaaccaccagaaccctttctcc
tttggcaatgccgtgccaggcctgaccttccactggtctgtcaccaagcgggacgtcctg
gacctccgagggcggcaccacgaggcgtcgatccgactcccgtcacagtacaactttgcc
atgaacgtgctcggccgggtaaaaggccggaccgggctgagggtggtggtcaaggctgtg
gaccccacatcggggcagctgtatggcctggccagagaactctcggatgagatccaagtc
caggtgtttgagaagctgcagctgctcaaccctgaaatagaagcagaacaaatattaatg
tcgcccaactcatatataaagctgcagacaaacagggatggtgcagcctctctgagctac
cgcgtcctggatggacccgaaaaggttccagttgtgcatgttgatgagaaaggctttcta
gcatcagggtctatgatcgggacatccaccatcgaagtgattgcacaagagccctttggg
gccaaccaaaccatcattgttgctgtaaaggtatcccctgtttcctacctgagggtttcc
atgagccctgtcctgcacacccagaacaaggaggccctggtggccgtgcctttgggaatg
accgtgaccttcactgtccacttccacgacaactctggagatgtcttccatgctcacagt
tcggtcctcaactttgccactaacagagacgactttgtgcagatcgggaagggccccacc
aacaacacctgcgttgtccgcacagtcagcgtgggcctgacactgctccgtgtgtgggac
gcagagcacccgggcctctcggacttcatgcccctgcctgtcctacaggccatctcccca
gagctgtctggggccatggtggtgggggacgtgctctgtctggccactgttctgaccagc
ctggaaggcctctcaggaacctggagctcctcggccaacagcatcctccacatcgacccc
aagacgggtgtggctgtggcccgggccgtgggatccgtgacggtttactatgaggtcgct
gggcacctgaggacctacaaggaggtggtggtcagcgtccctcagaggatcatggcccgt
cacctccaccccatccagaccagcttccaggaggctacagcctccaaagtgattgttgcc
gtgggagacagaagctctaacctgagaggcgagtgcacccccacccagagggaagtcatc
caggccttgcacccagagaccctcatcagctgccagtcccagttcaagccggccgtcttt
gatttcccatctcaagatgtgttcaccgtggagccacagtttgacactgctctcggccag
tacttctgctcaatcacaatgcacaggctgacggacaagcagcggaagcacctgagcatg
aagaagacagctctggtggtcagtgcctccctctccagcagccacttctccacagagcag
gtgggggccgaggtgcccttcagcccaggtctcttcgccgaccaggctgaaatccttttg
agcaaccactacaccagttccgagatcagggtctttggtgccccggaggttctggagaac
ttggaggtgaaatccgggtccccggccgtgctggcattcgcaaaggagaagtcttttggg
tggcccagcttcatcacatacacggtcggcgtcttggaccccgcggctggcagccaaggg
cctctgtccactaccctgaccttctccagccccgtgaccaaccaagccattgccatccca
gtgacagtggcttttgtggtggatcgccgtgggcccggtccttatggagccagcctcttc
cagcacttcctggattcctaccaggtcatgttcttcacgctcttcgccctgttggctggg
acagcggtcatgatcatagcctaccacactgtctgcacgccccgggatcttgctgtgcct
gcagccctcacgcctcgagccagccctggacacagcccccactatttcgctgcctcatca
cccacatctcccaatgcattgcctcctgctcgcaaagccagccctccctcagggctgtgg
agcccagcctatgcctcccactag

KEGG   Homo sapiens (human): 55706
Entry
55706             CDS       T01001                                 

Symbol
NDC1, NET3, TMEM48
Name
(RefSeq) NDC1 transmembrane nucleoporin
  KO
K14315  nucleoporin NDC1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    55706 (NDC1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    55706 (NDC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    55706 (NDC1)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     55706 (NDC1)
SSDB
Motif
Pfam: Ndc1_Nup
Other DBs
NCBI-GeneID: 55706
NCBI-ProteinID: NP_060557
OMIM: 610115
HGNC: 25525
Ensembl: ENSG00000058804
Vega: OTTHUMG00000008073
Pharos: Q9BTX1(Tbio)
UniProt: Q9BTX1
LinkDB
Position
1:complement(53765478..53838296)
AA seq 674 aa
MATAVSRPCAGRSRDILWRVLGWRIVASIVWSVLFLPICTTVFIIFSRIDLFHPIQWLSD
SFSDLYSSYVIFYFLLLSVVIIIISIFNVEFYAVVPSIPCSRLALIGKIIHPQQLMHSFI
HAAMGMVMAWCAAVITQGQYSFLVVPCTGTNSFGSPAAQTCLNEYHLFFLLTGAFMGYSY
SLLYFVNNMNYLPFPIIQQYKFLRFRRSLLLLVKHSCVESLFLVRNFCILYYFLGYIPKA
WISTAMNLHIDEQVHRPLDTVSGLLNLSLLYHVWLCGVFLLTTWYVSWILFKIYATEAHV
FPVQPPFAEGSDECLPKVLNSNPPPIIKYLALQDLMLLSQYSPSRRQEVFSLSQPGGHPH
NWTAISRECLNLLNGMTQKLILYQEAAATNGRVSSSYPVEPKKLNSPEETAFQTPKSSQM
PRPSVPPLVKTSLFSSKLSTPDVVSPFGTPFGSSVMNRMAGIFDVNTCYGSPQSPQLIRR
GPRLWTSASDQQMTEFSNPSPSTSISAEGKTMRQPSVIYSWIQNKREQIKNFLSKRVLIM
YFFSKHPEASIQAVFSDAQMHIWALEGLSHLVAASFTEDRFGVVQTTLPAILNTLLTLQE
AVDKYFKLPHASSKPPRISGSLVDTSYKTLRFAFRASLKTAIYRITTTFGEHLNAVQASA
EHQKRLQQFLEFKE
NT seq 2025 nt   +upstreamnt  +downstreamnt
atggccacggccgtgagccggccctgcgccggcaggtcgcgggacatactgtggcgcgtt
ttgggctggaggatagttgcaagtattgtttggtcagtgctatttctacccatctgcacc
acagtatttataattttcagcaggattgatttgtttcatcctatacagtggctgtctgat
tctttcagtgacctgtatagttcctatgtaatcttttacttcctgctgctgtcagtggta
ataataataataagtattttcaatgtggagttctatgcagttgtgccttctattccttgc
tccagactagctctgatagggaagatcattcatcctcagcaactcatgcactcatttatt
catgctgcaatgggaatggtgatggcctggtgtgctgcagtgataacccagggccagtac
agctttcttgtggttccctgcactggtactaacagctttggtagccctgctgcgcaaacc
tgcttaaatgaatatcatctttttttcctactgactggagcatttatgggctatagctat
agcctcctgtattttgttaacaacatgaactatcttccatttcccatcatacagcaatac
aagttcttgcgttttaggagatctctgctcttattagttaaacacagttgtgtggaatca
ctgttcctggttagaaatttctgcattttatattattttcttggctatattcccaaagct
tggattagcactgctatgaaccttcacatagatgagcaggttcataggccacttgacaca
gtgagtggcctcttaaatctctcgttactctaccatgtctggctgtgtggtgtctttctc
ctgacgacttggtatgtctcatggatactcttcaaaatctatgccacagaggctcatgtg
tttcctgttcaaccaccatttgcagaagggtcagatgagtgccttccaaaagtgttaaat
agcaatcctccccccatcataaagtatttagccttgcaggacctgatgttgctttctcaa
tattctccttcacgaagacaagaagttttcagcctcagccaaccaggtggacatccccac
aattggacagccatttcaagggagtgtttgaatcttttaaatggtatgactcagaaactg
attctctatcaagaagctgctgctacgaatgggagagtgtcttcatcttacccagtggaa
cctaagaaattaaattctccagaagaaactgcttttcagacaccaaaatctagccagatg
cctcggccttcagtgccaccattagttaaaacatcactgttttcttcaaaattatctaca
cctgatgttgtgagcccatttgggaccccatttggctctagtgtaatgaatcggatggct
ggaatttttgatgtaaacacctgctatgggtcaccgcaaagtcctcagctaataagaagg
gggccaagattgtggacatcagcttctgatcagcaaatgactgaattttctaatccttct
ccatctacctctattagtgctgagggtaagacaatgagacaacccagtgtgatttattca
tggattcagaataaacgtgaacagattaagaatttcttgtcaaaacgggtgctgataatg
tattttttcagtaagcacccagaggcctccattcaggctgttttttcagatgcccaaatg
catatttgggcattagaaggtctgtcgcacttagtagcagcatcatttacagaggataga
tttggagttgtccagacgacactaccagctatccttaatactttgttgacactgcaagag
gcagtcgacaagtactttaagcttcctcatgcttccagtaaaccaccccggatttcagga
agccttgtggacacttcatataaaacattaagatttgcattcagagcatcactgaaaact
gccatctatcgaataactactacatttggtgaacatctgaatgctgtgcaagcatctgca
gaacatcagaaaagacttcaacagttcttggagttcaaagaatag

KEGG   Homo sapiens (human): 9883
Entry
9883              CDS       T01001                                 

Symbol
POM121, P145, POM121A
Name
(RefSeq) POM121 transmembrane nucleoporin
  KO
K14316  nuclear pore complex protein Nup121
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    9883 (POM121)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    9883 (POM121)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    9883 (POM121)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     9883 (POM121)
SSDB
Motif
Pfam: POM121 DUF6366
Other DBs
NCBI-GeneID: 9883
NCBI-ProteinID: NP_001244119
OMIM: 615753
HGNC: 19702
Ensembl: ENSG00000196313
Vega: OTTHUMG00000023527
Pharos: Q96HA1(Tbio)
UniProt: Q96HA1
Structure
LinkDB
Position
7:72879357..72951459
AA seq 999 aa
MVCSPVTVRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAKETVLSALKEKEKKRTV
EEEDQIFLDGQENKRRRHDSSGSGHSAFEPLVANGVPASFVPKPGSLKRGLNSQSSDDHL
NKRSRSSSMSSLTGAYASGIPSSSRNAITSSYSSTRGISQLWKRNGPSSSPFSSPASSRS
QTPERPAKKIREEELCHHSSSSTPLAADRESQGEKAADTTPRKKQNSNSQSTPGSSGQRK
RKVQLLPSRRGEQLTLPPPPQLGYSITAEDLDLEKKASLQWFNQALEDKSDAASNSVTET
PPITQPSFTFTLPAAAPASPPTSLLAPSTNPLLESLKKMQTPPSLPPCPESAGAATTEAL
SPPKTPSLLPPLGLSQSGPPGLLPSPSFDSKPPTTLLGLIPAPSMVPATDTKAPPTLQAE
TATKPQATSAPSPAPKQSFLFGTQNTSPSSPAAPAASSAPPMFKPIFTAPPKSEKEGPTP
PGPSVTATAPSSSSLPTTTSTTAPTFQPVFSSMGPPASVPLPAPFFKQTTTPATAPTTTA
PLFTGLASATSAVAPITSASPSTDSASKPAFGFGINSVSSSSVSTTTSTATAASQPFLFG
APQASAASFTPAMGSIFQFGKPPALPTTTTVTTFSQSLHTAVPTATSSSAADFSGFGSTL
ATSAPATSSQPTLTFSNTSTPTFNIPFGSSAKSPLPSYPGANPQPAFGAAEGQPPGAAKP
ALAPSFGSSFTFGNSAAPAAAPTPAPPSMIKVVPAYVPTPIHPIFGGATHSAFGLKATAS
AFGAPASSQPAFGGSTAVFFGAATSSGFGATTQTASSGSSSSVFGSTTPSPFTFGGSAAP
AGSGSFGINVATPGSSTTTGAFSFGAGQSGSTATSTPFAGGLGQNALGTTGQSTPFAFNV
SSTTESKPVFGGTATPTFGLNTPAPGVGTSGSSLSFGASSAPAQGFVGVAPFGNTFAHQQ
EHSPRKGPNNLSKRKLLPAVRAQGLPRRGQASSFPTRKE
NT seq 3000 nt   +upstreamnt  +downstreamnt
atggtgtgtagcccagtgactgtgaggatcgcccctcctgacagaagattttcgcgttct
gcgataccagagcagataatcagctcaacactgtcctcaccatcaagtaacgccccagac
ccatgtgcaaaggagacagtactgagtgccctcaaagagaaggagaagaaaaggacagtg
gaggaagaagaccaaatattccttgatggccaggaaaataaaagaaggcgccatgatagc
agtggcagtggacattcagcatttgagcccctggtggccaatggagtccccgcttctttt
gtgcctaagcctgggtctctgaagagaggcctcaattctcagagctcagatgaccacttg
aataagagatcccgaagctcttccatgagctccttgacaggcgcttacgcaagtggcatc
cctagctccagccgcaatgccattaccagttcctacagctccactcgaggcatctcacag
ctctggaagagaaatggccccagttcatcacccttctctagcccagcctcctcccgctcc
cagacaccggagaggccagcaaagaaaataagagaagaggagctgtgtcatcattccagt
tcttcaactccattggcagcagacagggagtcccagggagaaaaggctgcagatacaacc
ccaaggaagaaacaaaactcgaattctcagtctacacctggcagctctgggcagcgtaag
cggaaagttcagctgctgccttctcggcgaggggaacagctgaccttgcctccacctccc
cagcttggctattcgatcactgccgaggacctagacttagagaagaaggcttcattacag
tggttcaaccaggccttggaggacaagagcgatgctgcctcgaactctgtcactgagacc
ccacctatcactcagccttcatttacctttaccctgcctgctgctgcacctgcctcccca
cccacctccctcctggccccaagcaccaacccactgttagagagcttgaagaagatgcag
actcccccgagcctgccaccctgcccagaatctgctggagcagcaaccactgaggccctc
tcacctccaaagacacccagcctcctacccccgctgggtttatcacagtcagggccgcca
gggctgctccccagcccctcctttgactccaaacccccgaccactttgctggggctgatc
cctgctccatccatggtaccagccactgacaccaaggcacctccaacccttcaggcagag
acggctaccaaaccccaagccacatctgccccgtcccccgcccccaagcaaagcttcctg
tttggaacacagaacacctcaccttccagccctgccgcccctgctgcatcttcagcacct
cccatgttcaagcccattttcacggctccacccaagagtgagaaggaaggccccacaccg
cctggcccttcagtcacagccacagcgccctccagctcctccctccccacgaccaccagc
accacagccccgaccttccagcctgtctttagcagcatggggccacctgcatctgtgccc
ttgcctgctcccttcttcaagcagacaactactcccgccactgctcccaccacaactgcc
ccgctcttcactggcctggccagcgccacctctgctgtggctcccatcacctctgccagt
ccatccacagactctgcttcgaagcctgcgtttggctttggcataaacagtgtgagcagc
agcagtgtgagtaccacgaccagcaccgccactgccgcctcacagcctttcctcttcggg
gcgccccaggcctctgctgccagcttcaccccggccatgggctccatattccagtttggc
aaacctcctgccttgcccacaaccaccacagtcaccaccttcagccagtccctgcacact
gccgtgccaacggccaccagcagcagcgctgccgactttagtggttttggcagcaccctc
gccacctccgccccggccaccagcagccagcccactctgacgttcagtaacacgagcacc
cccacgttcaacattccctttggctcaagcgccaagtccccgctcccatcatatccggga
gccaacccccagcccgcatttggggccgctgaggggcagccaccgggggccgccaagccg
gcccttgcccccagctttggcagctctttcacttttggaaactctgcagccccggctgct
gcacccacacctgcacctccgtccatgatcaaggtcgtgcctgcgtacgtgcctacgccc
atccatcctatctttggcggtgccacgcactcggcgtttgggttgaaagccacggcttcg
gccttcggcgctcccgccagctcacagcccgcctttggcggctccactgctgtcttcttc
ggtgcagccaccagctccggctttggagccaccacccagaccgccagcagcgggagcagc
agctcggtgtttggcagcacaacaccatcacccttcacgtttgggggttcggcagccccc
gctggcagtgggagctttgggatcaatgtggccaccccaggctccagcaccaccaccgga
gctttcagctttggagcaggacagagtgggagcacagccacctccacccccttcgcaggg
ggcttaggtcagaacgccctgggcaccaccggccagagcacaccgtttgccttcaacgtg
agcagcacaactgagagcaaacctgtgtttggaggcaccgccacccccacctttggtctg
aacacccctgcgcctggagtgggcacatcaggcagcagcctctcctttggggcatcctca
gcacccgcccaaggctttgttggtgttgcacctttcggcaacacttttgctcaccagcaa
gaacacagcccgaggaagggacccaataacctttcaaaacgcaaactgctgcctgcggtg
agggcccagggtcttccacggagaggacaggcatcttcctttcccaccaggaaggagtga

KEGG   Homo sapiens (human): 8021
Entry
8021              CDS       T01001                                 

Symbol
NUP214, CAIN, CAN, IIAE9
Name
(RefSeq) nucleoporin 214
  KO
K14317  nuclear pore complex protein Nup214
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00003  Acute myeloid leukemia
H02536  Infection-induced acute encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    8021 (NUP214)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    8021 (NUP214)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    8021 (NUP214)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     8021 (NUP214)
SSDB
Motif
Pfam: Nup214_FG ANAPC4_WD40 NUP214 dCache_2
Other DBs
NCBI-GeneID: 8021
NCBI-ProteinID: NP_005076
OMIM: 114350
HGNC: 8064
Ensembl: ENSG00000126883
Vega: OTTHUMG00000020816
Pharos: P35658(Tbio)
UniProt: P35658
Structure
LinkDB
Position
9:131125586..131234663
AA seq 2090 aa
MGDEMDAMIPEREMKDFQFRALKKVRIFDSPEELPKERSSLLAVSNKYGLVFAGGASGLQ
IFPTKNLLIQNKPGDDPNKIVDKVQGLLVPMKFPIHHLALSCDNLTLSACMMSSEYGSII
AFFDVRTFSNEAKQQKRPFAYHKLLKDAGGMVIDMKWNPTVPSMVAVCLADGSIAVLQVT
ETVKVCATLPSTVAVTSVCWSPKGKQLAVGKQNGTVVQYLPTLQEKKVIPCPPFYESDHP
VRVLDVLWIGTYVFAIVYAAADGTLETSPDVVMALLPKKEEKHPEIFVNFMEPCYGSCTE
RQHHYYLSYIEEWDLVLAASAASTEVSILARQSDQINWESWLLEDSSRAELPVTDKSDDS
LPMGVVVDYTNQVEITISDEKTLPPAPVLMLLSTDGVLCPFYMINQNPGVKSLIKTPERL
SLEGERQPKSPGSTPTTPTSSQAPQKLDASAAAAPASLPPSSPAAPIATFSLLPAGGAPT
VFSFGSSSLKSSATVTGEPPSYSSGSDSSKAAPGPGPSTFSFVPPSKASLAPTPAASPVA
PSAASFSFGSSGFKPTLESTPVPSVSAPNIAMKPSFPPSTSAVKVNLSEKFTAAATSTPV
SSSQSAPPMSPFSSASKPAASGPLSHPTPLSAPPSSVPLKSSVLPSPSGRSAQGSSSPVP
SMVQKSPRITPPAAKPGSPQAKSLQPAVAEKQGHQWKDSDPVMAGIGEEIAHFQKELEEL
KARTSKACFQVGTSEEMKMLRTESDDLHTFLLEIKETTESLHGDISSLKTTLLEGFAGVE
EAREQNERNRDSGYLHLLYKRPLDPKSEAQLQEIRRLHQYVKFAVQDVNDVLDLEWDQHL
EQKKKQRHLLVPERETLFNTLANNREIINQQRKRLNHLVDSLQQLRLYKQTSLWSLSSAV
PSQSSIHSFDSDLESLCNALLKTTIESHTKSLPKVPAKLSPMKQAQLRNFLAKRKTPPVR
STAPASLSRSAFLSQRYYEDLDEVSSTSSVSQSLESEDARTSCKDDEAVVQAPRHAPVVR
TPSIQPSLLPHAAPFAKSHLVHGSSPGVMGTSVATSASKIIPQGADSTMLATKTVKHGAP
SPSHPISAPQAAAAAALRRQMASQAPAVNTLTESTLKNVPQVVNVQELKNNPATPSTAMG
SSVPYSTAKTPHPVLTPVAANQAKQGSLINSLKPSGPTPASGQLSSGDKASGTAKIETAV
TSTPSASGQFSKPFSFSPSGTGFNFGIITPTPSSNFTAAQGATPSTKESSQPDAFSSGGG
SKPSYEAIPESSPPSGITSASNTTPGEPAASSSRPVAPSGTALSTTSSKLETPPSKLGEL
LFPSSLAGETLGSFSGLRVGQADDSTKPTNKASSTSLTSTQPTKTSGVPSGFNFTAPPVL
GKHTEPPVTSSATTTSVAPPAATSTSSTAVFGSLPVTSAGSSGVISFGGTSLSAGKTSFS
FGSQQTNSTVPPSAPPPTTAATPLPTSFPTLSFGSLLSSATTPSLPMSAGRSTEEATSSA
LPEKPGDSEVSASAASLLEEQQSAQLPQAPPQTSDSVKKEPVLAQPAVSNSGTAASSTSL
VALSAEATPATTGVPDARTEAVPPASSFSVPGQTAVTAAAISSAGPVAVETSSTPIASST
TSIVAPGPSAEAAAFGTVTSGSSVFAQPPAASSSSAFNQLTNNTATAPSATPVFGQVAAS
TAPSLFGQQTGSTASTAAATPQVSSSGFSSPAFGTTAPGVFGQTTFGQASVFGQSASSAA
SVFSFSQPGFSSVPAFGQPASSTPTSTSGSVFGAASSTSSSSSFSFGQSSPNTGGGLFGQ
SNAPAFGQSPGFGQGGSVFGGTSAATTTAATSGFSFCQASGFGSSNTGSVFGQAASTGGI
VFGQQSSSSSGSVFGSGNTGRGGGFFSGLGGKPSQDAANKNPFSSASGGFGSTATSNTSN
LFGNSGAKTFGGFASSSFGEQKPTGTFSSGGGSVASQGFGFSSPNKTGGFGAAPVFGSPP
TFGGSPGFGGVPAFGSAPAFTSPLGSTGGKVFGEGTAAASAGGFGFGSSSNTTSFGTLAS
QNAPTFGSLSQQTSGFGTQSSGFSGFGSGTGGFSFGSNNSSVQGFGGWRS
NT seq 6273 nt   +upstreamnt  +downstreamnt
atgggagacgagatggatgccatgattcccgagcgggagatgaaggattttcagtttaga
gcgctaaagaaggtgagaatctttgactcccctgaggaattgcccaaggaacgctcgagt
ctgcttgctgtgtccaacaaatatggtctggtcttcgctggtggagccagtggcttgcag
atttttcctactaaaaatcttcttattcaaaataaacccggagatgatcccaacaaaata
gttgataaagtccaaggcttgctagttcctatgaaattcccaatccatcacctggccttg
agctgtgataacctcacactctctgcgtgcatgatgtccagtgaatatggttccattatt
gctttttttgatgttcgcacattctcaaatgaggctaaacagcaaaaacgcccatttgcc
tatcataagcttttgaaagatgcaggaggcatggtgattgatatgaagtggaaccccact
gtcccctccatggtggcagtttgtctggctgatggtagtattgctgtcctgcaagtcacg
gaaacagtgaaagtatgtgcaactcttccttccacggtagcagtaacctctgtgtgctgg
agccccaaaggaaagcagctggcagtgggaaaacagaatggaactgtggtccagtatctt
cctactttgcaggaaaaaaaagtcattccttgtcctccgttttatgagtcagatcatcct
gtcagagttctggatgtgctgtggattggtacctacgtcttcgccatagtgtatgctgct
gcagatgggaccctggaaacgtctccagatgtggtgatggctctactaccgaaaaaagaa
gaaaagcacccagagatatttgtgaactttatggagccctgttatggcagctgcacggag
agacagcatcattactacctcagttacattgaggaatgggatttagtgctggcagcatct
gcggcttcaacagaagttagtatccttgctcgacaaagtgatcagattaattgggaatct
tggctactggaggattctagtcgagctgaattgcctgtgacagacaagagtgatgactcc
ttgcccatgggagttgtcgtagactatacaaaccaagtggaaatcaccatcagtgatgaa
aagactcttcctcctgctccagttctcatgttactttcaacagatggtgtgctttgtcca
ttttatatgattaatcaaaatcctggggttaagtctctcatcaaaacaccagagcgactt
tcattagaaggagagcgacagcccaagtcaccaggaagtactcccactaccccaacctcc
tctcaagccccacagaaactggatgcttctgcagctgcagcccctgcctctctgccacct
tcatcacctgctgctcccattgccactttttctttgcttcctgctggtggagcccccact
gtgttctcctttggttcttcatctttgaagtcatctgctacggtcactggggagccccct
tcatattccagtggctccgacagctccaaagcagccccaggccctggcccatcaaccttc
tcttttgttcccccttctaaagcctccctagcccccacccctgcagcgtctcctgtggct
ccatcagctgcttcattctcctttggatcatctggttttaagcctaccctggaaagcaca
ccagtgccaagtgtgtctgctccaaatatagcaatgaagccctccttcccaccctcaacc
tctgctgtcaaagtcaaccttagtgaaaagtttactgctgcagctacctctactcctgtt
agtagctcccagagcgcacccccgatgtcgccattctcttctgcctccaagccagctgct
tctggaccactcagccaccccacacctctctcagcaccacctagttccgtgccattgaag
tcctcagtcttgccctcaccatcaggacgatctgctcagggcagttcaagcccagtgccc
tcaatggtacagaaatcacccaggataacccctccagcggcaaagccaggctctccccag
gcaaagtcacttcagcctgctgttgcagaaaagcagggacatcagtggaaagattcagat
cctgtaatggctggaattggggaggagattgcacactttcagaaggagttggaagagtta
aaagcccgaacttccaaagcctgtttccaagtgggcacttctgaggagatgaagatgctg
cgaacagaatcagatgacttgcatacctttcttttggagattaaagagaccacagagtcg
cttcatggagatataagtagcctgaaaacaactttacttgagggctttgctggtgttgag
gaagccagagaacaaaatgaaagaaatcgtgactctggttatctgcatttgctttataaa
agaccactggatcccaagagtgaagctcagcttcaggaaattcggcgccttcatcagtat
gtgaaatttgctgtccaagatgtgaatgatgttctagacttggagtgggatcagcatctg
gaacaaaagaaaaaacaaaggcacctgcttgtgccagagcgagagacactgtttaacacc
ctagccaacaatcgggaaatcatcaaccaacagaggaagaggctgaatcacctggtggat
agtcttcagcagctccgcctttacaaacagacttccctgtggagcctgtcctcggctgtt
ccttcccagagcagcattcacagttttgacagtgacctggaaagcctgtgcaatgctttg
ttgaaaaccaccatagaatctcacaccaaatccttgcccaaagtaccagccaaactgtcc
cccatgaaacaggcacaactgagaaacttcttggccaagaggaagaccccaccagtgaga
tccactgctccagccagcctgtctcgatcagcctttctgtctcagagatattatgaagac
ttggatgaagtcagctcaacgtcatctgtctcccagtctctggagagtgaagatgcacgg
acgtcctgtaaagatgacgaggcagtggttcaggcccctcggcacgcccccgtggttcgc
actccttccatccagcccagtctcttgccccatgcagcaccttttgctaaatctcacctg
gttcatggttcttcacctggtgtgatgggaacttcagtggctacatctgctagcaaaatt
attcctcaaggggccgatagcacaatgcttgccacgaaaaccgtgaaacatggtgcacct
agtccttcccaccccatctcagccccgcaggcagctgccgcagcagcactcaggcggcag
atggccagtcaggcaccagctgtaaacactttgactgaatcaacgttgaagaatgtccct
caagtggtaaatgtgcaggaattgaagaataaccctgcaaccccttctacagccatgggt
tcttcagtgccctactccacagccaaaacacctcacccagtgttgaccccagtggctgct
aaccaagccaagcaggggtctctaataaattcccttaagccatctgggcctacaccagca
tccggtcagttatcatctggtgacaaagcttcagggacagccaagatagaaacagctgtg
acttcaaccccatctgcttctgggcagttcagcaagcctttctcattttctccatcaggg
actggctttaattttgggataatcacaccaacaccgtcttctaatttcactgctgcacaa
ggggcaacaccctccactaaagagtcaagccagccggacgcattctcatctggtggggga
agcaaaccttcttatgaggccattcctgaaagctcacctccctcaggaatcacatccgca
tcaaacaccaccccaggagaacctgccgcatctagcagcagacctgtggcaccttctgga
actgctctttccaccacctctagtaagctggaaaccccaccgtccaagctgggagagctt
ctgtttccaagttctttggctggagagactctgggaagtttttcaggactgcgggttggc
caagcagatgattctacaaaaccaaccaataaggcttcatccacaagcctaactagtacc
cagccaaccaagacgtcaggcgtgccctcagggtttaattttactgcccccccggtgtta
gggaagcacacggagccccctgtgacatcctctgcaaccaccacctcagtagcaccacca
gcagccaccagcacttcctcaactgccgtttttggcagtctgccagtcaccagtgcagga
tcctctggggtcatcagttttggtgggacatctctaagtgctggcaagactagtttttca
tttggaagccaacagaccaatagcacagtgcccccatctgccccaccaccaactacagct
gccactccccttccaacatcattccccacattgtcatttggtagcctcctgagttcagca
actaccccctccctgcctatgtccgctggcagaagcacagaagaggccacttcatcagct
ttgcctgagaagccaggtgacagtgaggtctcagcatcagcagcctcacttctagaggag
caacagtcagcccagcttccccaggctcctccgcaaacttctgactctgttaaaaaagaa
cctgttcttgcccagcctgcagtcagcaactctggcactgcagcatctagtactagtctt
gtagcactttctgcagaggctaccccagccaccacgggggtccctgatgccaggacggag
gcagtaccacctgcttcctccttttctgtgcctgggcagactgctgtcacagcagctgct
atctcaagtgcaggccctgtggccgtcgaaacatcaagtacccccatagcctccagcacc
acgtccattgttgctcccggcccatctgcagaggcagcagcatttggtaccgtcacttct
ggctcatccgtctttgctcagcctcctgctgccagttctagctcagctttcaaccagctc
accaacaacacagccactgccccctctgccacgcccgtgtttgggcaagtggcagccagc
accgcaccaagtctgtttgggcagcagactggtagcacagccagcacagcagctgccaca
ccacaggtcagcagctcagggtttagcagcccagcttttggtaccacagccccaggggtc
tttggacagacaaccttcgggcaggcctcagtctttgggcagtcggcgagcagtgctgca
agtgtcttttccttcagtcagcctgggttcagttccgtgcctgccttcggtcagcctgct
tcctccactcccacatccaccagtggaagtgtctttggtgccgcctcaagtaccagtagc
tccagttccttctcatttggacagtcttctcccaacacaggaggggggctgtttggccaa
agcaacgctcctgcttttgggcagagtcctggctttggacagggaggctctgtctttggt
ggtacctcagctgccaccacaacagcagcaacctctgggttcagcttttgccaagcttca
ggttttgggtctagtaatactggttctgtgtttggtcaagcagccagtactggtggaata
gtctttggccagcaatcatcctcttccagtggtagcgtgtttgggtctggaaacactgga
agagggggaggtttcttcagtggccttggaggaaaacccagtcaggatgcagccaacaaa
aacccattcagctcggccagtgggggctttggatccacagctacctcaaatacctctaac
ctatttggaaacagtggggccaagacatttggtggatttgccagctcgtcgtttggagag
cagaaacccactggcactttcagctctggaggaggaagtgtggcatcccaaggctttggg
ttttcctctccaaacaaaacaggtggcttcggtgctgctccagtgtttggcagccctcct
acttttgggggatcccctgggtttggaggggtgccagcattcggttcagccccagccttt
acaagccctctgggctcgacgggaggcaaagtgttcggagagggcactgcagctgccagc
gcaggaggattcgggtttgggagcagcagcaacaccacatccttcggcacgctcgcgagt
cagaatgcccccactttcggatcactgtcccaacagacttctggttttgggacccagagt
agcggattctctggttttggatcaggcacaggagggttcagctttgggtcaaataactcg
tctgtccagggttttggtggctggcgaagctga

KEGG   Homo sapiens (human): 4927
Entry
4927              CDS       T01001                                 

Symbol
NUP88, FADS4
Name
(RefSeq) nucleoporin 88
  KO
K14318  nuclear pore complex protein Nup88
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H00987  Fetal akinesia deformation sequence
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    4927 (NUP88)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    4927 (NUP88)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    4927 (NUP88)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     4927 (NUP88)
SSDB
Motif
Pfam: Nup88
Other DBs
NCBI-GeneID: 4927
NCBI-ProteinID: NP_002523
OMIM: 602552
HGNC: 8067
Ensembl: ENSG00000108559
Vega: OTTHUMG00000099453
Pharos: Q99567(Tbio)
UniProt: Q99567
LinkDB
Position
17:complement(5384833..5419662)
AA seq 741 aa
MAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNV
VFGLGGELFLWDGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQ
HHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCSTTPVAERFFTSSTSLTLKHAAWYP
SEILDPHVVLLTSDNVIRIYSLREPQTPTNVIILSEAEEESLVLNKGRAYTASLGETAVA
FDFGPLAAVPKTLFGQNGKDEVVAYPLYILYENGETFLTYISLLHSPGNIGKLLGPLPMH
PAAEDNYGYDACAVLCLPCVPNILVIATESGMLYHCVVLEGEEEDDHTSEKSWDSRIDLI
PSLYVFECVELELALKLASGEDDPFDSDFSCPVKLHRDPKCPSRYHCTHEAGVHSVGLTW
IHKLHKFLGSDEEDKDSLQELSTEQKCFVEHILCTKPLPCRQPAPIRGFWIVPDILGPTM
ICITSTYECLIWPLLSTVHPASPPLLCTREDVEVAESPLRVLAETPDSFEKHIRSILQRS
VANPAFLKASEKDIAPPPEECLQLLSRATQVFREQYILKQDLAKEEIQRRVKLLCDQKKK
QLEDLSYCREERKSLREMAERLADKYEEAKEKQEDIMNRMKKLLHSFHSELPVLSDSERD
MKKELQLIPDQLRHLGNAIKQVTMKKDYQQQKMEKVLSLPKPTIILSAYQRKCIQSILKE
EGEHIREMVKQINDIRNHVNF
NT seq 2226 nt   +upstreamnt  +downstreamnt
atggcggccgccgagggaccggtgggcgacggcgagctgtggcagacctggcttcctaac
cacgtcgtgttcttgcggctccgggagggactgaaaaaccagagtccaaccgaagctgag
aaaccagcttcttcgtcgttgccttcgtcgccgccgccgcagttgctgacgagaaacgtg
gtctttggcctcggcggagagcttttcctgtgggacggagaagacagctccttcttagtc
gttcgccttcggggccccagcggcggcggcgaagagcccgccctgtcccagtaccagaga
ttgctttgcataaatccacccctgtttgaaatctatcaagtcttgttaagcccaacacaa
catcatgtagcacttataggaataaaaggacttatggtattagaattacctaaaagatgg
gggaagaattctgaatttgaaggtggaaaatcaacagtgaattgtagtaccactccagtt
gcggagagatttttcaccagttccacctctctgactctaaagcatgctgcatggtatcca
agtgaaatcctggatccccacgtagtgctgttaacatcagacaacgtaatcagaatttac
tcactacgtgagccgcagacacccactaacgtgataatactttcagaagccgaagaggaa
agtctagtactcaataaaggaagggcgtataccgcatctctaggagagacagcagttgca
tttgactttgggccattggcagcagtcccaaagactctatttggacaaaacggcaaagat
gaagtagtggcatacccactgtacatcttatatgaaaatggagagactttcctgacatac
atcagtctgttacacagccctggaaatattggaaagctgttgggtccattgcccatgcat
cctgcggctgaagataactatggttatgatgcgtgtgctgtactctgcttaccctgtgtc
cccaatatcttagtgatcgctactgaatcaggaatgctgtatcactgtgtcgtgctagaa
ggggaagaagaagatgaccacacgtcagaaaagtcctgggattccaggattgacctcatt
ccttctctgtatgtgtttgaatgtgttgagttggagcttgctttgaaactggcatctgga
gaggatgacccttttgattctgacttttcttgtccagtcaaacttcatagagatcccaag
tgtccttcaagatatcactgtactcatgaagctggtgtacatagtgttgggctaacttgg
attcataaacttcacaaatttcttggatcagatgaagaagataaggatagtttacaggaa
ctctctacagaacagaaatgctttgttgaacacatcctttgtacgaagccattgccctgc
aggcagccagctccaattcgaggattttggattgtacctgacattctgggacccacgatg
atctgcatcaccagtacctatgaatgcctcatatggccgttattaagtacagtccatcca
gcgtctcctcccctgctttgtactcgagaagatgttgaagtggcagagtctcccctccgt
gttctggctgaaaccccagattcctttgaaaagcatattagaagcattttgcaacgtagt
gttgccaatccagcatttttgaaagcttctgaaaaggacatagcccctcctcctgaagaa
tgccttcagctcctcagcagagccacccaggtgttcagagagcagtacattctcaaacag
gacttggcaaaggaggagattcagcggagggtcaaattattatgtgaccaaaaaaagaaa
caactagaagatctcagttattgtcgagaagagaggaaaagtctgcgggaaatggctgag
cgtttagctgacaaatatgaggaagctaaagaaaaacaagaggatatcatgaacaggatg
aaaaaactacttcacagttttcactctgagctcccagttctctctgatagtgagcgagac
atgaagaaagaattacagctgatacctgatcaacttcgacatttgggcaatgccatcaaa
caggttactatgaaaaaggattatcaacagcaaaagatggagaaggtgttgagtcttcca
aaacccaccattattctcagtgcctaccagcgaaagtgcattcagtccatcctgaaagag
gagggtgaacatataagggaaatggtgaagcaaatcaatgatatccgcaatcatgtaaac
ttctga

KEGG   Homo sapiens (human): 5903
Entry
5903              CDS       T01001                                 

Symbol
RANBP2, ADANE, ANE1, IIAE3, NUP358, TRP1, TRP2
Name
(RefSeq) RAN binding protein 2
  KO
K12172  E3 SUMO-protein ligase RanBP2 [EC:2.3.2.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa05014  Amyotrophic lateral sclerosis
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Disease
H02536  Infection-induced acute encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    5903 (RANBP2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    5903 (RANBP2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    5903 (RANBP2)
   03110 Chaperones and folding catalysts [BR:hsa03110]
    5903 (RANBP2)
   04121 Ubiquitin system [BR:hsa04121]
    5903 (RANBP2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.2  Aminoacyltransferases
    2.3.2.-  
     5903 (RANBP2)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Nuclear pore complex
     5903 (RANBP2)
Chaperones and folding catalysts [BR:hsa03110]
 Protein folding catalysts
  Peptidyl prolyl isomerase
   Cyclophilin
    5903 (RANBP2)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  UBL E3 ligases
   5903 (RANBP2)
SSDB
Motif
Pfam: Ran_BP1 zf-RanBP IR1-M Pro_isomerase WH1 TPR_1 TPR_2 TPR_8 TPR_14 TPR_16 TPR_7 TPR_11
Other DBs
NCBI-GeneID: 5903
NCBI-ProteinID: NP_006258
OMIM: 601181
HGNC: 9848
Ensembl: ENSG00000153201
Vega: OTTHUMG00000130981
Pharos: P49792(Tbio)
UniProt: P49792
Structure
LinkDB
Position
2:108719446..108785809
AA seq 3224 aa
MRRSKADVERYIASVQGSTPSPRQKSMKGFYFAKLYYEAKEYDLAKKYICTYINVQERDP
KAHRFLGLLYELEENTDKAVECYRRSVELNPTQKDLVLKIAELLCKNDVTDGRAKYWLER
AAKLFPGSPAIYKLKEQLLDCEGEDGWNKLFDLIQSELYVRPDDVHVNIRLVEVYRSTKR
LKDAVAHCHEAERNIALRSSLEWNSCVVQTLKEYLESLQCLESDKSDWRATNTDLLLAYA
NLMLLTLSTRDVQESRELLQSFDSALQSVKSLGGNDELSATFLEMKGHFYMHAGSLLLKM
GQHSSNVQWRALSELAALCYLIAFQVPRPKIKLIKGEAGQNLLEMMACDRLSQSGHMLLN
LSRGKQDFLKEIVETFANKSGQSALYDALFSSQSPKDTSFLGSDDIGNIDVREPELEDLT
RYDVGAIRAHNGSLQHLTWLGLQWNSLPALPGIRKWLKQLFHHLPHETSRLETNAPESIC
ILDLEVFLLGVVYTSHLQLKEKCNSHHSSYQPLCLPLPVCKQLCTERQKSWWDAVCTLIH
RKAVPGNVAKLRLLVQHEINTLRAQEKHGLQPALLVHWAECLQKTGSGLNSFYDQREYIG
RSVHYWKKVLPLLKIIKKKNSIPEPIDPLFKHFHSVDIQASEIVEYEEDAHITFAILDAV
NGNIEDAVTAFESIKSVVSYWNLALIFHRKAEDIENDALSPEEQEECKNYLRKTRDYLIK
IIDDSDSNLSVVKKLPVPLESVKEMLNSVMQELEDYSEGGPLYKNGSLRNADSEIKHSTP
SPTRYSLSPSKSYKYSPKTPPRWAEDQNSLLKMICQQVEAIKKEMQELKLNSSNSASPHR
WPTENYGPDSVPDGYQGSQTFHGAPLTVATTGPSVYYSQSPAYNSQYLLRPAANVTPTKG
PVYGMNRLPPQQHIYAYPQQMHTPPVQSSSACMFSQEMYGPPALRFESPATGILSPRGDD
YFNYNVQQTSTNPPLPEPGYFTKPPIAAHASRSAESKTIEFGKTNFVQPMPGEGLRPSLP
TQAHTTQPTPFKFNSNFKSNDGDFTFSSPQVVTQPPPAAYSNSESLLGLLTSDKPLQGDG
YSGAKPIPGGQTIGPRNTFNFGSKNVSGISFTENMGSSQQKNSGFRRSDDMFTFHGPGKS
VFGTPTLETANKNHETDGGSAHGDDDDDGPHFEPVVPLPDKIEVKTGEEDEEEFFCNRAK
LFRFDVESKEWKERGIGNVKILRHKTSGKIRLLMRREQVLKICANHYISPDMKLTPNAGS
DRSFVWHALDYADELPKPEQLAIRFKTPEEAALFKCKFEEAQSILKAPGTNVAMASNQAV
RIVKEPTSHDNKDICKSDAGNLNFEFQVAKKEGSWWHCNSCSLKNASTAKKCVSCQNLNP
SNKELVGPPLAETVFTPKTSPENVQDRFALVTPKKEGHWDCSICLVRNEPTVSRCIACQN
TKSANKSGSSFVHQASFKFGQGDLPKPINSDFRSVFSTKEGQWDCSACLVQNEGSSTKCA
ACQNPRKQSLPATSIPTPASFKFGTSETSKTLKSGFEDMFAKKEGQWDCSSCLVRNEANA
TRCVACQNPDKPSPSTSVPAPASFKFGTSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNE
ASATKCIACQNPGKQNQTTSAVSTPASSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNEA
SATKCIACQNPGKQNQTTSAVSTPASSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNEAS
ATKCIACQCPSKQNQTTAISTPASSEISKAPKSGFEGMFIRKGQWDCSVCCVQNESSSLK
CVACDASKPTHKPIAEAPSAFTLGSEMKLHDSSGSQVGTGFKSNFSEKASKFGNTEQGFK
FGHVDQENSPSFMFQGSSNTEFKSTKEGFSIPVSADGFKFGISEPGNQEKKSEKPLENGT
GFQAQDISGQKNGRGVIFGQTSSTFTFADLAKSTSGEGFQFGKKDPNFKGFSGAGEKLFS
SQYGKMANKANTSGDFEKDDDAYKTEDSDDIHFEPVVQMPEKVELVTGEEDEKVLYSQRV
KLFRFDAEVSQWKERGLGNLKILKNEVNGKLRMLMRREQVLKVCANHWITTTMNLKPLSG
SDRAWMWLASDFSDGDAKLEQLAAKFKTPELAEEFKQKFEECQRLLLDIPLQTPHKLVDT
GRAAKLIQRAEEMKSGLKDFKTFLTNDQTKVTEEENKGSGTGAAGASDTTIKPNPENTGP
TLEWDNYDLREDALDDSVSSSSVHASPLASSPVRKNLFRFGESTTGFNFSFKSALSPSKS
PAKLNQSGTSVGTDEESDVTQEEERDGQYFEPVVPLPDLVEVSSGEENEQVVFSHRAKLY
RYDKDVGQWKERGIGDIKILQNYDNKQVRIVMRRDQVLKLCANHRITPDMTLQNMKGTER
VWLWTACDFADGERKVEHLAVRFKLQDVADSFKKIFDEAKTAQEKDSLITPHVSRSSTPR
ESPCGKIAVAVLEETTRERTDVIQGDDVADATSEVEVSSTSETTPKAVVSPPKFVFGSES
VKSIFSSEKSKPFAFGNSSATGSLFGFSFNAPLKSNNSETSSVAQSGSESKVEPKKCELS
KNSDIEQSSDSKVKNLFASFPTEESSINYTFKTPEKAKEKKKPEDSPSDDDVLIVYELTP
TAEQKALATKLKLPPTFFCYKNRPDYVSEEEEDDEDFETAVKKLNGKLYLDGSEKCRPLE
ENTADNEKECIIVWEKKPTVEEKAKADTLKLPPTFFCGVCSDTDEDNGNGEDFQSELQKV
QEAQKSQTEEITSTTDSVYTGGTEVMVPSFCKSEEPDSITKSISSPSVSSETMDKPVDLS
TRKEIDTDSTSQGESKIVSFGFGSSTGLSFADLASSNSGDFAFGSKDKNFQWANTGAAVF
GTQSVGTQSAGKVGEDEDGSDEEVVHNEDIHFEPIVSLPEVEVKSGEEDEEILFKERAKL
YRWDRDVSQWKERGVGDIKILWHTMKNYYRILMRRDQVFKVCANHVITKTMELKPLNVSN
NALVWTASDYADGEAKVEQLAVRFKTKEVADCFKKTFEECQQNLMKLQKGHVSLAAELSK
ETNPVVFFDVCADGEPLGRITMELFSNIVPRTAENFRALCTGEKGFGFKNSIFHRVIPDF
VCQGGDITKHDGTGGQSIYGDKFEDENFDVKHTGPGLLSMANQGQNTNNSQFVITLKKAE
HLDFKHVVFGFVKDGMDTVKKIESFGSPKGSVCRRITITECGQI
NT seq 9675 nt   +upstreamnt  +downstreamnt
atgaggcgcagcaaggctgacgtggagcggtacatcgcctcggtgcagggctccaccccg
tcgcctcgacagaagtcaatgaaaggattctattttgcaaagctgtattatgaagctaaa
gaatatgatcttgctaaaaaatacatatgtacttacattaatgtgcaagagagggatccc
aaagctcacagatttctgggtcttctttatgaattggaagaaaacacagacaaagccgtt
gaatgttacaggcgttcagtggaattaaacccaacacaaaaagatcttgtgttgaagatt
gcagaattgctttgtaaaaatgatgttactgatggaagagcaaaatactggcttgaaaga
gcagccaaacttttcccaggaagtcctgcaatttataaactaaaggaacagcttctagat
tgtgaaggtgaagatggatggaataaactttttgacttgattcagtcagaactttatgta
agacctgatgacgtccatgtgaacatccggctagtggaggtgtatcgctcaactaaaaga
ttgaaggatgctgtggcccactgccatgaggcagagaggaacatagctttgcgttcaagt
ttagaatggaattcgtgtgttgtacagacccttaaggaatatctggagtctttacagtgt
ttggagtctgataaaagtgactggcgagcaaccaatacagacttactgctggcctatgct
aatcttatgcttcttacgctttccactagagatgtgcaggaaagtagagaattactgcaa
agttttgatagtgctcttcagtctgtgaaatctttgggtggaaatgatgaactgtcagct
actttcttagaaatgaaaggacatttctacatgcatgctggttctctgcttttgaagatg
ggtcagcatagtagtaatgttcaatggcgagctctttctgagctggctgcattgtgctat
ctcatagcatttcaggttccaagaccaaagattaaattaataaaaggtgaagctggacaa
aatctgctggaaatgatggcctgtgaccgactgagccaatcagggcacatgttgctaaac
ttaagtcgtggcaagcaagattttttaaaagagattgttgaaacttttgccaacaaaagc
gggcagtctgcattatatgatgctctgttttctagtcagtcacctaaggatacatctttt
cttggtagcgatgatattggaaacattgatgtacgagaaccagagcttgaagatttgact
agatacgatgttggtgctattcgagcacataatggtagtcttcagcaccttacttggctt
ggcttacagtggaattcattgcctgctttacctggaatccgaaaatggctaaaacagctt
ttccatcatttgccccatgaaacctcaaggcttgaaacaaatgcacctgaatcaatatgt
attttagatcttgaagtatttctccttggagtagtatataccagccacttacaattaaag
gagaaatgtaattctcaccacagctcctatcagccgttatgcctgccccttcctgtgtgt
aaacagctttgtacagaaagacaaaaatcttggtgggatgcggtttgtactctgattcac
agaaaagcagtacctggaaacgtagcaaaattgagacttctagttcagcatgaaataaac
actctaagagcccaggaaaaacatggccttcaacctgctctgcttgtacattgggcagaa
tgccttcagaaaacgggcagcggtcttaattctttttatgatcaacgagaatacataggg
agaagtgttcattattggaagaaagttttgccattgttgaagataataaaaaagaagaac
agtattcctgaacctattgatcctctgtttaaacattttcatagtgtagacattcaggca
tcagaaattgttgaatatgaagaagacgcacacataacttttgctatattggatgcagta
aatggaaatatagaagatgctgtgactgcttttgaatctataaaaagtgttgtttcttat
tggaatcttgcactgatttttcacaggaaggcagaagacattgaaaatgatgccctttct
cctgaagaacaagaagaatgcaaaaattatctgagaaagaccagggactacctaataaag
attatagatgacagtgattcaaatctttcagtggtcaagaaattgcctgtgcccctggag
tctgtaaaagagatgcttaattcagtcatgcaggaactcgaagactatagtgaaggaggt
cctctctataaaaatggttctttgcgaaatgcagattcagaaataaaacattctacaccg
tctcctaccagatattcactatcaccaagtaaaagttacaagtattctcccaaaacacca
cctcgatgggcagaagatcagaattctttactgaaaatgatttgccaacaagtagaggcc
attaagaaagaaatgcaggagttgaaactaaatagcagtaactcagcatcccctcatcgt
tggcccacagagaattatggaccagactcagtgcctgatggatatcaggggtcacagaca
tttcatggggctccactaacagttgcaactactggcccttcagtatattatagtcagtca
ccagcatataattcccagtatcttctcagaccagcagctaatgttactcccacaaagggc
ccagtctatggcatgaataggcttccaccccaacagcatatttatgcctatccgcaacag
atgcacacaccgccagtgcaaagctcatctgcttgtatgttctctcaggagatgtatggt
cctcctgcattgcgttttgagtctcctgcaacgggaattctatcgcccaggggtgatgat
tactttaattacaatgttcaacagacaagcacaaatccacctttgccagaaccaggatat
ttcacaaaacctccgattgcagctcatgcttcaagatctgcagaatctaagactatagaa
tttgggaaaactaattttgttcagcccatgccgggtgaaggattaaggccatctttgcca
acacaagcacacacaacacagccaactccttttaaatttaactcaaatttcaaatcaaat
gatggtgacttcacgttttcctcaccacaggttgtgacacagccccctcctgcagcttac
agtaacagtgaaagccttttaggtctcctgacttcagataaacccttgcaaggagatggc
tatagtggagccaaaccaattcctggtggtcaaaccattgggcctcgaaatacattcaat
tttggaagcaaaaatgtgtctggaatttcatttacagaaaacatggggtcgagtcagcaa
aagaattctggttttcggcgaagtgatgatatgtttactttccatggtccagggaaatca
gtatttggaacacccactttagagacagcaaacaagaatcatgagacagatggaggaagt
gcccatggggatgatgatgatgacggtcctcactttgagcctgtagtacctcttcctgat
aagattgaagtaaaaactggtgaggaagatgaagaagaattcttttgcaaccgcgcgaaa
ttgtttcgtttcgatgtagaatccaaagaatggaaagaacgtgggattggcaatgtaaaa
atactgaggcataaaacatctggtaaaattcgccttctaatgagacgagagcaagtattg
aaaatctgtgcaaatcattacatcagtccagatatgaaattgacaccaaatgctggatca
gacagatcttttgtatggcatgcccttgattatgcagatgagttgccaaaaccagaacaa
cttgctattaggttcaaaactcctgaggaagcagcactttttaaatgcaagtttgaagaa
gcccagagcattttaaaagccccaggaacaaatgtagccatggcgtcaaatcaggctgtc
agaattgtaaaagaacccacaagtcatgataacaaggatatttgcaaatctgatgctgga
aacctgaattttgaatttcaggttgcaaagaaagaagggtcttggtggcattgtaacagc
tgctcattaaagaatgcttcaactgctaagaaatgtgtatcatgccaaaatctaaaccca
agcaataaagagctcgttggcccaccattagctgaaactgtttttactcctaaaaccagc
ccagagaatgttcaagatcgatttgcattggtgactccaaagaaagaaggtcactgggat
tgtagtatttgtttagtaagaaatgaacctactgtatctaggtgcattgcgtgtcagaat
acaaaatctgctaacaaaagtggatcttcatttgttcatcaagcttcatttaaatttggc
cagggagatcttcctaaacctattaacagtgatttcagatctgttttttctacaaaggaa
ggacagtgggattgcagtgcatgtttggtacaaaatgaggggagctctacaaaatgtgct
gcttgtcagaatccgagaaaacagagtctacctgctacttctattccaacacctgcctct
tttaagtttggtacttcagagacaagtaaaactctaaaaagtggatttgaagacatgttt
gctaagaaggaaggacagtgggattgcagttcatgcttagtgcgaaatgaagcaaatgct
acaagatgtgttgcttgtcagaatccggataaaccaagtccatctacttctgttccagct
cctgcctcttttaagtttggtacttcagagacaagcaaggctccaaagagcggatttgag
ggaatgttcactaagaaggagggacagtgggattgcagtgtgtgcttagtaagaaatgaa
gccagtgctaccaaatgtattgcttgtcagaatccaggtaaacaaaatcaaactacttct
gcagtttcaacacctgcctcttcagagacaagcaaggctccaaagagcggatttgaggga
atgttcactaagaaggagggacagtgggattgcagtgtgtgcttagtaagaaatgaagcc
agtgctaccaaatgtattgcttgtcagaatccaggtaaacaaaatcaaactacttctgca
gtttcaacacctgcctcttcagagacaagcaaggctccaaagagcggatttgagggaatg
ttcactaagaaggaaggacagtgggattgcagtgtgtgcttagtaagaaatgaagccagt
gctaccaaatgtattgcttgtcagtgtccaagtaaacaaaatcaaacaactgcaatttca
acacctgcctcttcggagataagcaaggctccaaagagtggatttgaaggaatgttcatc
aggaaaggacagtgggattgtagtgtttgctgtgtacaaaatgagagttcttccttaaaa
tgtgtggcttgtgatgcctctaaaccaactcataaacctattgcagaagctccttcagct
ttcacactgggctcagaaatgaagttgcatgactcttctggaagtcaggtgggaacagga
tttaaaagtaatttctcagaaaaagcttctaagtttggcaatacagagcaaggattcaaa
tttgggcatgtggatcaagaaaattcaccttcatttatgtttcagggttcttctaataca
gaatttaagtcaaccaaagaaggattttccatccctgtgtctgctgatggatttaaattt
ggcatttcggaaccaggaaatcaagaaaagaaaagtgaaaagcctcttgaaaatggtact
ggcttccaggctcaggatattagtggccagaagaatggccgtggtgtgatttttggccaa
acaagtagcacttttacatttgcagatcttgcaaaatcaacttcaggagaaggatttcag
tttggcaaaaaagaccccaatttcaagggattttcaggtgctggagaaaaattattctca
tcacaatacggtaaaatggccaataaagcaaacacttccggtgactttgagaaagatgat
gatgcctataagactgaggacagcgatgacatccattttgaaccagtagttcaaatgccc
gaaaaagtagaacttgtaacaggagaagaagatgaaaaagttctgtattcacagcgggta
aaactatttagatttgatgctgaggtaagtcagtggaaagaaaggggcttggggaactta
aaaattctcaaaaacgaggtcaatggcaaactaagaatgctgatgcgaagagaacaagta
ctaaaagtgtgtgctaatcattggataacgactacgatgaacctgaagcctctctctgga
tcagatagagcatggatgtggttagccagtgatttctctgatggtgatgccaaactagag
cagttggcagcaaaatttaaaacaccagagctggctgaagaattcaagcagaaatttgag
gaatgccagcggcttctgttagacataccacttcaaactccccataaacttgtagatact
ggcagagctgccaagttaatacagagagctgaagaaatgaagagtggactgaaagatttc
aaaacatttttgacaaatgatcaaacaaaagtcactgaggaagaaaataagggttcaggt
acaggtgcggccggtgcctcagacacaacaataaaacccaatcctgaaaacactgggccc
acattagaatgggataactatgatttaagggaagatgctttggatgatagtgtcagtagt
agctcagtacatgcttctccattggcaagtagccctgtgagaaaaaatcttttccgtttt
ggtgagtcaacaacaggatttaacttcagttttaaatctgctttgagtccatctaagtct
cctgccaagttgaatcagagtgggacttcagttggcactgatgaagaatctgatgttact
caagaagaagagagagatggacagtactttgaacctgttgttcctttacctgatctagtt
gaagtatccagtggtgaggaaaatgaacaagttgtttttagtcacagggcaaaactctac
agatatgataaagatgttggtcaatggaaagaaaggggcattggtgatataaagatttta
cagaattatgataataagcaagttcgtatagtgatgagaagggaccaagtattaaaactt
tgtgccaatcacagaataactccagacatgactttgcaaaatatgaaagggacagaaaga
gtatggttgtggactgcatgtgattttgcagatggagaaagaaaagtagagcatttagct
gttcgttttaaactacaggatgttgcagactcgtttaagaaaatttttgatgaagcaaaa
acagcccaggaaaaagattctttgataacacctcatgtttctcggtcaagcactcccaga
gagtcaccatgtggcaaaattgctgtagctgtattagaagaaaccacaagagagaggaca
gatgttattcagggtgatgatgtagcagatgcaacttcagaagttgaagtgtctagcaca
tctgaaacaacaccaaaagcagtggtttctcctccaaagtttgtatttggttcagagtct
gttaaaagcatttttagtagtgaaaaatcaaaaccatttgcattcggcaacagttcagcc
actgggtctttgtttggatttagttttaatgcacctttgaaaagtaacaatagtgaaact
agttcagtagcccagagtggatctgaaagcaaagtggaacctaaaaaatgtgaactgtca
aagaactctgatatcgaacagtcttcagatagcaaagtcaaaaatctctttgcttccttt
ccaacggaagaatcttcaatcaactacacatttaaaacaccagaaaaggcaaaagagaag
aaaaaacctgaagattctccctcagatgatgatgttctcattgtatatgaactaactcca
accgctgagcagaaagcccttgcaaccaaacttaaacttcctccaactttcttctgctac
aagaatagaccagattatgttagtgaagaagaggaggatgatgaagatttcgaaacagct
gtcaagaaacttaatggaaaactatatttggatggctcagaaaaatgtagacccttggaa
gaaaatacagcagataatgagaaagaatgtattattgtttgggaaaagaaaccaacagtt
gaagagaaggcaaaagcagatacgttaaaacttccacctacatttttttgtggagtctgt
agtgatactgatgaagacaatggaaatggggaggactttcaatcagagcttcaaaaagtt
caggaagctcaaaaatctcagacagaagaaataactagcacaactgacagtgtatataca
ggtgggactgaagtgatggtaccttctttctgtaaatctgaagaacctgattctattacc
aaatccattagttcaccatctgtttcctctgaaactatggacaaacctgtagatttgtca
actagaaaggaaattgatacagattctacaagccaaggggaaagcaagatagtttcattt
ggatttggaagtagcacagggctctcatttgcagacttggcttccagtaattctggagat
tttgcttttggttctaaagataaaaatttccaatgggcaaatactggagcagctgtgttt
ggaacacagtcagtcggaacccagtcagccggtaaagttggtgaagatgaagatggtagt
gatgaagaagtagttcataatgaagatatccattttgaaccaatagtgtcactaccagag
gtagaagtaaaatctggagaagaagatgaagaaattttgtttaaagagagagccaaactt
tatagatgggatcgggatgtcagtcagtggaaggagcgcggtgttggagatataaagatt
ctttggcatacaatgaagaattattaccggatcctaatgagaagagaccaggtttttaaa
gtgtgtgcaaaccacgttattactaaaacaatggaattaaagcccttaaatgtttcaaat
aatgctttagtttggactgcctcagattatgctgatggagaagcaaaagtagaacagctt
gcagtgagatttaaaactaaagaagtagctgattgtttcaagaaaacatttgaagaatgt
cagcagaatttaatgaaactccagaaaggacatgtatcactggcagcagaattatcaaag
gagaccaatcctgtggtgttttttgatgtttgtgcggacggtgaacctctagggcggata
actatggaattattttcaaacattgttcctcggactgctgagaacttcagagcactatgc
actggagagaaaggctttggtttcaagaattccatttttcacagagtaattccagatttt
gtttgccaaggaggagatatcaccaaacatgatggaacaggcggacagtccatttatgga
gacaaatttgaagatgaaaattttgatgtgaaacatactggtcctggtttactatccatg
gccaatcaaggccagaataccaataattctcaatttgttataacactgaagaaagcagaa
catttggactttaagcatgtagtatttgggtttgttaaggatggcatggatactgtgaaa
aagattgaatcatttggttctcccaaagggtctgtttgtcgaagaataactatcacagaa
tgtggacagatataa

KEGG   VARIANT: 2733v1
Entry
2733v1                      Variant                                

Name
GLE1 mutation
Gene
GLE1  GLE1 RNA export mediator [KO:K18723]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603371
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Reference
  Authors
Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
  Title
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
  Journal
Nat Genet 40:155-7 (2008)
DOI:10.1038/ng.2007.65
Reference
  Authors
Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL
  Title
Genetics of amyotrophic lateral sclerosis: A review.
  Journal
J Neurol Sci 399:217-226 (2019)
DOI:10.1016/j.jns.2019.02.030
LinkDB

KEGG   Homo sapiens (human): 11269
Entry
11269             CDS       T01001                                 

Symbol
DDX19B, DBP5, DDX19, RNAh
Name
(RefSeq) DEAD-box helicase 19B
  KO
K18655  ATP-dependent RNA helicase DDX19/DBP5 [EC:3.6.4.13]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03013  Nucleocytoplasmic transport
hsa03015  mRNA surveillance pathway
Network
nt06424  RNA processing
nt06464  Amyotrophic lateral sclerosis
  Element
N01152  Nuclear export of mRNA
N01153  Mutation-caused aberrant GLE1 to nuclear export of mRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03013 Nucleocytoplasmic transport
    11269 (DDX19B)
   03015 mRNA surveillance pathway
    11269 (DDX19B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    11269 (DDX19B)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.6  Acting on acid anhydrides
   3.6.4  Acting on acid anhydrides to facilitate cellular and subcellular movement
    3.6.4.13  RNA helicase
     11269 (DDX19B)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    Other transport factors
     11269 (DDX19B)
SSDB
Motif
Pfam: DEAD Helicase_C ResIII
Other DBs
NCBI-GeneID: 11269
NCBI-ProteinID: NP_009173
OMIM: 605812
HGNC: 2742
Ensembl: ENSG00000157349
Vega: OTTHUMG00000137577
Pharos: Q9UMR2(Tbio)
UniProt: Q9UMR2 A0A0U4B4U6
Structure
LinkDB
Position
16:70289767..70335305
AA seq 479 aa
MATDSWALAVDEQEAAAESLSNLHLKEEKIKPDTNGAVVKTNANAEKTDEEEKEDRAAQS
LLNKLIRSNLVDNTNQVEVLQRDPNSPLYSVKSFEELRLKPQLLQGVYAMGFNRPSKIQE
NALPLMLAEPPQNLIAQSQSGTGKTAAFVLAMLSQVEPANKYPQCLCLSPTYELALQTGK
VIEQMGKFYPELKLAYAVRGNKLERGQKISEQIVIGTPGTVLDWCSKLKFIDPKKIKVFV
LDEADVMIATQGHQDQSIRIQRMLPRNCQMLLFSATFEDSVWKFAQKVVPDPNVIKLKRE
EETLDTIKQYYVLCSSRDEKFQALCNLYGAITIAQAMIFCHTRKTASWLAAELSKEGHQV
ALLSGEMMVEQRAAVIERFREGKEKVLVTTNVCARGIDVEQVSVVINFDLPVDKDGNPDN
ETYLHRIGRTGRFGKRGLAVNMVDSKHSMNILNRIQEHFNKKIERLDTDDLDEIEKIAN
NT seq 1440 nt   +upstreamnt  +downstreamnt
atggccactgactcatgggccctggcggtggacgagcaggaagctgcggctgagtcgttg
agcaacttgcatcttaaggaagagaaaatcaaaccagataccaatggtgctgttgtcaag
accaatgccaatgcagagaagacagatgaagaagagaaagaggacagagctgcccagtcc
ttactcaacaagctgatcagaagcaaccttgttgataacacaaaccaagtggaagtcctg
cagcgggatccaaactcccctctgtactcggtgaagtcttttgaagagcttcggctgaaa
ccacagcttctccaaggagtctatgccatgggtttcaatcgtccatccaagatacaagag
aacgcattgccactgatgcttgctgagcccccacagaacttaattgcccaatctcagtct
ggtactggtaaaacagctgccttcgtgctggccatgcttagccaagtagaacctgcaaac
aaatacccccagtgtctatgtctctccccaacgtatgagctcgccctccaaacaggaaaa
gtgattgaacaaatgggcaaattttaccctgaactgaagctagcttatgctgttcgaggc
aataaattggaaagaggccagaagatcagtgagcagattgtcattggcacccctgggact
gtgctggactggtgctccaagctcaagttcattgatcccaagaaaatcaaggtgtttgtt
ctggatgaggctgatgtcatgatagccactcagggccaccaagatcagagcatccgcatc
cagaggatgctgcccaggaactgccagatgctgcttttctccgccacctttgaagactct
gtgtggaagtttgcccagaaagtggtcccagacccaaacgttatcaaactgaagcgtgag
gaagagaccctggacaccatcaagcagtactatgtcctgtgcagcagcagagacgagaag
ttccaggccttgtgtaacctctacggggccatcaccattgctcaagccatgatcttctgc
catactcgcaaaacagctagttggctggcagcagagctctcaaaagaaggccaccaggtg
gctctgctgagtggggagatgatggtggaacagagggctgcagtgattgagcgcttccga
gagggcaaagagaaggttttggtgaccaccaacgtgtgtgcccgcggcattgatgttgaa
caagtgtctgtcgtcatcaactttgatcttcccgtggacaaggacgggaatcctgacaat
gagacctacctgcaccggatcgggcgcacgggccgctttggcaagaggggcctggcagtg
aacatggtggacagcaagcacagcatgaacatcctgaacagaatccaggagcattttaat
aagaagatagaaagattggacacagatgatttggacgagattgagaaaatagccaactga

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