KEGG   Homo sapiens (human): 6606
Entry
6606              CDS       T01001                                 
Symbol
SMN1, BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
Name
(RefSeq) survival motor neuron protein isoform d
  KO
K13129  survival motor neuron protein
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Disease
H00455  Spinal muscular atrophy
Drug target
Onasemnogene abeparvovec: D11559<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    6606 (SMN1)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    6606 (SMN1)
SSDB
Motif
Pfam: SMN_Tudor SMN_YG-box SMN_G2-BD TUDOR
Other DBs
NCBI-GeneID: 6606
NCBI-ProteinID: NP_000335
OMIM: 600354
HGNC: 11117
Ensembl: ENSP00000370083.4
UniProt: Q16637
Structure
LinkDB
Position
5:70924941..70966375
AA seq 294 aa
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq 885 nt   +upstreamnt  +downstreamnt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttc
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa

KEGG   Homo sapiens (human): 6607
Entry
6607              CDS       T01001                                 
Symbol
SMN2, BCD541, C-BCD541, GEMIN1, SMNC, TDRD16B
Name
(RefSeq) survival motor neuron protein isoform d
  KO
K13129  survival motor neuron protein
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Disease
H00455  Spinal muscular atrophy
Drug target
Branaplam (DG03212): D12272 D12273
Nusinersen (DG02002): D10791<JP/US> D10881
Risdiplam: D11406<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    6607 (SMN2)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    6607 (SMN2)
SSDB
Motif
Pfam: SMN_Tudor SMN_YG-box SMN_G2-BD TUDOR
Other DBs
NCBI-GeneID: 6607
NCBI-ProteinID: NP_059107
OMIM: 601627
HGNC: 11118
Ensembl: ENSP00000370119.4
UniProt: Q16637
Structure
LinkDB
Position
5:70049523..70090528
AA seq 294 aa
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq 885 nt   +upstreamnt  +downstreamnt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttt
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa

KEGG   Homo sapiens (human): 8487
Entry
8487              CDS       T01001                                 
Symbol
GEMIN2, SIP1, SIP1-delta
Name
(RefSeq) gem-associated protein 2 isoform alpha
  KO
K13130  gem associated protein 2
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    8487 (GEMIN2)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    8487 (GEMIN2)
SSDB
Motif
Pfam: SIP1 MATH_2
Other DBs
NCBI-GeneID: 8487
NCBI-ProteinID: NP_003607
OMIM: 602595
HGNC: 10884
Ensembl: ENSP00000308533.7
UniProt: O14893
Structure
LinkDB
Position
14:39114323..39136973
AA seq 269 aa
MAWVPAESAVEELMPRLLPVEPCDLTEGFDPSVPPRTPQEYLRRVQIEAAQCPDVVVAQI
DPKKLKRKQSVNISLSGCQPAPEGYSPTLQWQQQQVAQFSTVRQNVNKHRSHWKSQQLDS
NVTMPKSEDEEGWKKFCLGEKLCADGAVGPATNESPGIDYVQIGFPPLLSIVSRMNQATV
TSVLEYLSNWFGERDFTPELGRWLYALLACLEKPLLPEAHSLIRQLARRCSEVRLLVDSK
DDERVPALNLLICLVSRYFDQRDLADEPS
NT seq 810 nt   +upstreamnt  +downstreamnt
atggcgtgggtaccagcggagtccgcagtggaagagttgatgcctcggctattgccggta
gagccttgcgacttgacggaaggtttcgatccctcggtacccccgaggacgcctcaggaa
tacctgaggcgggtccagatcgaagcagctcaatgtccagatgttgtggtagctcaaatt
gacccaaagaagttgaaaaggaagcaaagtgtgaatatttctctttcaggatgccaaccc
gcccctgaaggttattccccaacacttcaatggcaacagcaacaagtggcacagttttca
actgttcgacagaatgtgaacaaacatagaagtcactggaaatcacaacagttggatagt
aatgtgacaatgccaaaatctgaagatgaagaaggctggaagaaattttgtctgggtgaa
aagttatgtgctgacggggctgttggaccagccacaaatgaaagtcctggaatagattat
gtacaaattggttttcctcccttgcttagtattgttagcagaatgaatcaggcaacagta
actagtgtcttggaatatctgagtaattggtttggagaaagagactttactccagaattg
ggaagatggctttatgctttattggcttgtcttgaaaagcctttgttacctgaggctcat
tcactgattcggcagcttgcaagaaggtgctctgaagtgaggctcttagtggatagcaaa
gatgatgagagggttcctgctttgaatttattaatctgcttggttagcaggtattttgac
caacgtgatttagctgatgagccatcttga

KEGG   Homo sapiens (human): 11218
Entry
11218             CDS       T01001                                 
Symbol
DDX20, DP103, GEMIN3
Name
(RefSeq) probable ATP-dependent RNA helicase DDX20
  KO
K13131  ATP-dependent RNA helicase DDX20 [EC:5.6.2.7]
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    11218 (DDX20)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.7  DEAD-box RNA helicase
     11218 (DDX20)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    11218 (DDX20)
SSDB
Motif
Pfam: DEAD Helicase_C ResIII AAA_19 AAA_30
Other DBs
NCBI-GeneID: 11218
NCBI-ProteinID: NP_009135
OMIM: 606168
HGNC: 2743
Ensembl: ENSP00000358716.4
UniProt: Q9UHI6 Q9H4N4
Structure
LinkDB
Position
1:111755901..111768000
AA seq 824 aa
MAAAFEASGALAAVATAMPAEHVAVQVPAPEPTPGPVRILRTAQDLSSPRTRTGDVLLAE
PADFESLLLSRPVLEGLRAAGFERPSPVQLKAIPLGRCGLDLIVQAKSGTGKTCVFSTIA
LDSLVLENLSTQILILAPTREIAVQIHSVITAIGIKMEGLECHVFIGGTPLSQDKTRLKK
CHIAVGSPGRIKQLIELDYLNPGSIRLFILDEADKLLEEGSFQEQINWIYSSLPASKQML
AVSATYPEFLANALTKYMRDPTFVRLNSSDPSLIGLKQYYKVVNSYPLAHKVFEEKTQHL
QELFSRIPFNQALVFSNLHSRAQHLADILSSKGFPAECISGNMNQNQRLDAMAKLKHFHC
RVLISTDLTSRGIDAEKVNLVVNLDVPLDWETYMHRIGRAGRFGTLGLTVTYCCRGEEEN
MMMRIAQKCNINLLPLPDPIPSGLMEECVDWDVEVKAAVHTYGIASVPNQPLKKQIQKIE
RTLQIQKAHGDHMASSRNNSVSGLSVKSKNNTKQKLPVKSHSECGIIEKATSPKELGCDR
QSEEQMKNSVQTPVENSTNSQHQVKEALPVSLPQIPCLSSFKIHQPYTLTFAELVEDYEH
YIKEGLEKPVEIIRHYTGPGDQTVNPQNGFVRNKVIEQRVPVLASSSQSGDSESDSDSYS
SRTSSQSKGNKSYLEGSSDNQLKDSESTPVDDRISLEQPPNGSDTPNPEKYQESPGIQMK
TRLKEGASQRAKQSRRNLPRRSSFRLQTEAQEDDWYDCHREIRLSFSDTYQDYEEYWRAY
YRAWQEYYAAASHSYYWNAQRHPSWMAAYHMNTIYLQEMMHSNQ
NT seq 2475 nt   +upstreamnt  +downstreamnt
atggcggcggcatttgaagcctcgggagccttagcagcagtggcgactgctatgccggct
gagcatgtggccgtgcaggtcccggccccagagccaacacccgggcctgtgaggatcctg
cggaccgctcaggatctcagcagcccgcggacccgcacgggggatgtgctgttggcggag
ccggccgacttcgagtcactgctgctttcgcggccggtgctggaggggctgcgggcggcc
ggcttcgagaggccctcgccggtgcagctcaaggccatcccgttggggcgctgcgggctc
gatttaattgttcaagctaaatctggcaccgggaaaacctgtgtgttctccaccatagct
ttggactctcttgttcttgaaaacttaagtacccagattttgatcttggctcctacaaga
gaaattgctgtacagatacattctgttattacagccattggaataaaaatggaaggctta
gagtgtcatgtctttattggagggaccccattatcacaagacaaaaccagacttaaaaag
tgtcatattgctgttggatctcctggcagaattaagcaactcatagaacttgactacttg
aacccaggcagtatacgcctctttattcttgatgaagcagataagcttttagaagaaggc
agcttccaggagcaaataaattggatttattcttccttgcctgccagtaaacagatgctg
gcagtatcagctacttatcccgaatttttggctaatgctttgacaaagtacatgagagat
cccacttttgtaagactgaattccagtgatccaagtctcataggtttgaagcagtattac
aaagttgtcaattcataccctttggcacataaggtttttgaggaaaagactcagcattta
caggaactgttcagcagaattccatttaatcaagctttagtcttttctaatttgcacagc
agagcacaacatttggctgatatcctttcttctaaaggctttcctgctgagtgcatttca
ggcaatatgaatcagaatcagcgtcttgatgctatggctaaactgaagcactttcattgc
agagtcctcatttccacagatttgacttctcgtgggattgatgctgagaaggtgaatctg
gttgtaaatctggatgtaccattggattgggagacatacatgcatcggattgggagagct
ggccgttttggtacattggggctgacagtgacctactgttgccggggagaggaagaaaat
atgatgatgagaattgcccagaaatgtaatatcaaccttctccctttaccagatcccatt
ccttctggtctgatggaagaatgtgtggattgggatgtggaagttaaagctgctgtgcat
acatatggtatagcaagtgtacctaaccaacccttaaaaaagcaaattcagaaaatagag
agaacccttcaaattcagaaagctcatggtgaccacatggcttcctctagaaataattct
gtatctggactatcagtcaaatcaaaaaataataccaaacaaaagcttcctgtgaaaagc
cactcagaatgtggaatcatagaaaaagcaacgtcaccaaaagaactgggctgtgacagg
caatccgaagagcaaatgaagaattctgttcagactcccgttgaaaactccaccaacagt
cagcaccaggtcaaagaagctttacctgtgtcactcccccagattccttgtctgtcttcc
tttaaaatccatcagccatacacgttgacttttgctgaattggtagaggattatgaacat
tatattaaagaggggttagagaaacctgtggaaatcatcaggcactacacaggccctggg
gatcagactgtgaatcctcaaaatggttttgtgagaaataaagttattgaacagagagtc
cctgtgttggcaagtagtagccaatctggagactctgagagtgacagtgattcttacagc
tcaagaacctcttcccagagcaaaggaaataagtcatacttggaaggctcttctgataat
cagctgaaagactctgaatctacgcctgtggatgatcgtatttctttggaacaaccacca
aatggaagtgacacccccaatccagagaaatatcaagaatcacctggaatccagatgaag
acaagacttaaagagggggctagccagagagctaagcagagccggagaaacctacccagg
cggtcttccttcagattgcagactgaagcccaggaagatgattggtatgactgtcatagg
gaaatacgtctgagtttttctgatacctatcaggattatgaggagtactggagagcttac
tacagggcatggcaagaatattatgctgccgcttctcattcatattattggaatgctcag
agacatccaagttggatggcagcttatcacatgaataccatttatctacaagaaatgatg
catagtaaccagtga

KEGG   Homo sapiens (human): 50628
Entry
50628             CDS       T01001                                 
Symbol
GEMIN4, HC56, HCAP1, HHRF-1, NEDMCR, p97
Name
(RefSeq) gem-associated protein 4
  KO
K13132  gem associated protein 4
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Disease
H02986  Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    50628 (GEMIN4)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    50628 (GEMIN4)
SSDB
Motif
Pfam: TPR_Edg1 Grim
Other DBs
NCBI-GeneID: 50628
NCBI-ProteinID: NP_056536
OMIM: 606969
HGNC: 15717
Ensembl: ENSP00000321706.5
UniProt: P57678 Q8WUM5
LinkDB
Position
17:complement(744421..754410)
AA seq 1058 aa
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF
NT seq 3177 nt   +upstreamnt  +downstreamnt
atggacctaggacccttgaacatctgtgaagaaatgactattctgcatggaggcttcttg
ctggccgagcagctgttccaccctaaggcactggcagaattaacaaagtctgactgggaa
cgtgttggacggcccatcgtggaggccttaagggagatctcctcggctgcagcacactcc
cagccctttgcctggaagaagaaagccctgatcatcatctgggccaaggttctgcagccg
caccccgtgaccccgtccgacacagagacacggtggcaggaagacctgttcttctcggtg
ggcaacatgatccccaccatcaaccacaccatcctcttcgagctgctcaaatccctggaa
gcttctggactctttatccagctcctgatggccctgcccaccaccatctgccatgcagaa
ctagagcgctttctggaacatgtgaccgttgacacttctgccgaagacgtggccttcttc
ctggacgtctggtgggaggtgatgaagcacaagggtcacccgcaggaccccctgctctcc
cagtttagtgcaatggcccataagtacctgcctgccttagatgagttcccccatcctcca
aagaggcttaggtcagacccagacgcgtgccccaccatgcccctgttggccatgctgctc
cgcgggctgacacagatccagagtcggatcctgggcccggggaggaagtgctgtgcgctg
gccaacctggctgacatgctgactgtgtttgcgctgacagaggacgacccccaggaggtg
tctgcaaccgtgtatctggacaaactggccacggtgatctctgtgtggaactcggacacc
cagaatccctaccaccagcaggcgctggcagagaaggtgaaggaggcagaacgggatgtc
agcctgacctcgctggccaaactccccagtgagaccattttcgtgggctgcgagttcctg
caccacctgctgcgggagtggggggaggagttgcaggccgtgctccgcagcagccagggg
acaagttacgacagctaccggctgtgcgacagtctgacttccttcagccagaacgcgacg
ctctacctgaaccgcaccagcctgtccaaggaggacaggcaggtggtctctgagctggcg
gagtgtgtcagggacttcctgaggaaaacgagcacggtgctgaagaacagggccttggag
gatatcacagcttccattgccatggccgtcatccagcagaagatggaccgccatatggaa
gtgtgctacatttttgcctctgagaagaagtgggccttctcggacgagtgggtagcctgc
ctggggagtaacagggccctcttccgacagccagacttggtgttgaggctgctggaaaca
gtgatagacgtcagcacagctgacagagccatccctgagtctcagatccggcaggtgatc
cacctgatcctggaatgttacgcagacctctccctgccaggtaaaaataaagtccttgca
ggtatcctgcgttcctgggggcgaaagggcctctctgaaaagttgctggcttatgtggag
ggttttcaggaagacctcaatacaacttttaaccagctcactcagagtgcctccgaacag
ggcttggcaaaagctgtggcctccgtggcccgcctggtcatagtgcacccggaagtcacg
gtgaagaaaatgtgcagcctggctgtggtcaatctcggcacccacaagttcctggcccag
attctcactgccttccctgcccttaggtttgtggaagagcagggtcccaattcatctgcc
actttcatggtgtcatgcctcaaagaaaccgtctggatgaagttctctacacccaaggaa
gaaaagcaatttttagagctcctgaactgcctgatgagtcccgtgaaaccccaagggatt
ccagtggctgctcttcttgagccagacgaggtgctgaaggaatttgtcctgcctttcttg
aggttagatgttgaagaggtagacctcagtctgaggatcttcatccagactctagaggca
aacgcgtgccgagaggaatactggctccagacctgctccccgtttccactcctcttcagc
ttgtgccagctcttggaccgcttcagcaaatactggcagcttcccaaggagaagcggtgc
ctctctttggataggaaggatctagcgatccatatcctggagctcctgtgtgagattgta
tcagccaatgctgagaccttctccccggatgtctggatcaagtccctgtcctggctccac
cgcaagttagaacagctagactggactgtgggcctgaggctgaagagcttcttcgagggg
cacttcaagtgtgaagtgccagccacactttttgagatctgtaagctttcagaagacgag
tggacctcccaggcccacccagggtacggggctggcacggggctcctggcctggatggag
tgctgctgcgtctccagcggcatctcggagaggatgctgtctctcttggtggtggacgtg
ggcaatcctgaggaggtcagactgttcagcaaaggctttctggtggccctggtgcaagtc
atgccttggtgcagccctcaggagtggcagcgccttcaccagctgaccaggagactgctg
gagaagcagctcctccatgtcccttatagcctggaatatattcagtttgttcccctgctc
aacctgaagccctttgcccaggagttgcaactctccgtcctcttcctgaggactttccag
tttctctgcagccatagctgtcgtgattggcttcctctggaaggctggaaccacgtggtc
aaactcctctgtggcagtctgacccgcctcctggactcagtcagggcgatacaggcagct
ggcccttgggttcaaggaccagagcaggacctgacccaggaagccctgtttgtttacacc
caggtgttctgccatgctctgcacatcatggccatgctccacccggaggtctgtgagcca
ctctacgttttagccttggaaaccctcacctgctatgagactttgagcaagaccaaccct
tctgtcagctccttgctccagagggcacacgagcagcgcttcttaaagtccattgctgag
ggcatcggccctgaagaacggcgccaaaccctgttgcagaagatgagcagcttctga

KEGG   Homo sapiens (human): 25929
Entry
25929             CDS       T01001                                 
Symbol
GEMIN5, GEMIN-5, NEDCAM
Name
(RefSeq) gem-associated protein 5 isoform 1
  KO
K13133  gem associated protein 5
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Disease
H02987  Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    25929 (GEMIN5)
   03041 Spliceosome [BR:hsa03041]
    25929 (GEMIN5)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Transport factors
    eIF4F and regulatory proteins
     25929 (GEMIN5)
   mRNA cycle factors
    P-body specific factors
     25929 (GEMIN5)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    25929 (GEMIN5)
SSDB
Motif
Pfam: GEMI5_RBS TPR_GEMI5 Beta-prop_THOC3 Beta-prop_IFT122_1st WD40_CDC20-Fz Beta-prop_WDR3_1st Beta-prop_WDR5 Beta-prop_RIG_2nd WD40_Prp19 Beta-prop_EML_2 WD40 WD40_WDHD1_1st ANAPC4_WD40 Beta-prop_WDR36-Utp21_1st DSE1_N Beta-prop_WDR3_2nd WDR55 EIF3I Beta-prop_RIG_1st Beta-prop_CAF1B_HIR1 Beta-prop_WDR90_POC16_2nd Beta-prop_IFT140_1st Beta-prop_WDR36-Utp21_2nd Beta-prop_HPS5 Beta-prop_TEP1_2nd Beta-prop_Aladin Beta-prop_WDR19_1st WD40_Gbeta Beta-prop_EML WDR90_beta-prop_4th WD40_MABP1-WDR62_2nd Beta-prop_WDR75_1st Beta-prop_TEP1_C Beta-prop_NOL10_N PAC11 Beta-prop_EIPR1 MIOS_WD40 WD40_RFWD3 ASA1 Beta-prop_WDR35_TULP_N WD40_MABP1-WDR62_1st NBCH_WD40 Beta-prop_WDR41 Beta-prop_Nup120_160 Beta-prop_VPS8 DNAI3_WD Tricorn_2nd
Other DBs
NCBI-GeneID: 25929
NCBI-ProteinID: NP_056280
OMIM: 607005
HGNC: 20043
Ensembl: ENSP00000285873.6
UniProt: Q8TEQ6 Q58EZ8
Structure
LinkDB
Position
5:complement(154887411..154938211)
AA seq 1508 aa
MGQEPRTLPPSPNWYCARCSDAVPGGLFGFAARTSVFLVRVGPGAGESPGTPPFRVIGEL
VGHTERVSGFTFSHHPGQYNLCATSSDDGTVKIWDVETKTVVTEHALHQHTISTLHWSPR
VKDLIVSGDEKGVVFCYWFNRNDSQHLFIEPRTIFCLTCSPHHEDLVAIGYKDGIVVIID
ISKKGEVIHRLRGHDDEIHSIAWCPLPGEDCLSINQEETSEEAEITNGNAVAQAPVTKGC
YLATGSKDQTIRIWSCSRGRGVMILKLPFLKRRGGGIDPTVKERLWLTLHWPSNQPTQLV
SSCFGGELLQWDLTQSWRRKYTLFSASSEGQNHSRIVFNLCPLQTEDDKQLLLSTSMDRD
VKCWDIATLECSWTLPSLGGFAYSLAFSSVDIGSLAIGVGDGMIRVWNTLSIKNNYDVKN
FWQGVKSKVTALCWHPTKEGCLAFGTDDGKVGLYDTYSNKPPQISSTYHKKTVYTLAWGP
PVPPMSLGGEGDRPSLALYSCGGEGIVLQHNPWKLSGEAFDINKLIRDTNSIKYKLPVHT
EISWKADGKIMALGNEDGSIEIFQIPNLKLICTIQQHHKLVNTISWHHEHGSQPELSYLM
ASGSNNAVIYVHNLKTVIESSPESPVTITEPYRTLSGHTAKITSVAWSPHHDGRLVSASY
DGTAQVWDALREEPLCNFRGHRGRLLCVAWSPLDPDCIYSGADDFCVHKWLTSMQDHSRP
PQGKKSIELEKKRLSQPKAKPKKKKKPTLRTPVKLESIDGNEEESMKENSGPVENGVSDQ
EGEEQAREPELPCGLAPAVSREPVICTPVSSGFEKSKVTINNKVILLKKEPPKEKPETLI
KKRKARSLLPLSTSLDHRSKEELHQDCLVLATAKHSRELNEDVSADVEERFHLGLFTDRA
TLYRMIDIEGKGHLENGHPELFHQLMLWKGDLKGVLQTAAERGELTDNLVAMAPAAGYHV
WLWAVEAFAKQLCFQDQYVKAASHLLSIHKVYEAVELLKSNHFYREAIAIAKARLRPEDP
VLKDLYLSWGTVLERDGHYAVAAKCYLGATCAYDAAKVLAKKGDAASLRTAAELAAIVGE
DELSASLALRCAQELLLANNWVGAQEALQLHESLQGQRLVFCLLELLSRHLEEKQLSEGK
SSSSYHTWNTGTEGPFVERVTAVWKSIFSLDTPEQYQEAFQKLQNIKYPSATNNTPAKQL
LLHICHDLTLAVLSQQMASWDEAVQALLRAVVRSYDSGSFTIMQEVYSAFLPDGCDHLRD
KLGDHQSPATPAFKSLEAFFLYGRLYEFWWSLSRPCPNSSVWVRAGHRTLSVEPSQQLDT
ASTEETDPETSQPEPNRPSELDLRLTEEGERMLSTFKELFSEKHASLQNSQRTVAEVQET
LAEMIRQHQKSQLCKSTANGPDKNEPEVEAEQPLCSSQSQCKEEKNEPLSLPELTKRLTE
ANQRMAKFPESIKAWPFPDVLECCLVLLLIRSHFPGCLAQEMQQQAQELLQKYGNTKTYR
RHCQTFCM
NT seq 4527 nt   +upstreamnt  +downstreamnt
atggggcaggagccgcggacgctgccgccctcccccaactggtactgcgcccgctgcagc
gatgccgtgcccgggggcctctttggcttcgccgcgcggacctccgtcttccttgtccgc
gtgggcccgggcgcaggcgagagtccagggacacccccgtttcgagtcataggagagttg
gtgggacacaccgaaagggtctctggcttcacattttctcatcaccctggtcagtacaac
ctctgtgccaccagctccgacgatgggactgtgaaaatatgggatgtagagacaaaaaca
gttgtgacagaacatgcactccatcagcatacgatatcaacattacattggtctcctcga
gtaaaggacttaatagtatctggggatgaaaaaggagtagttttctgttactggtttaac
agaaatgacagccagcacctctttatagaacccaggacaattttctgtcttacttgttca
cctcatcatgaagatttagtagccattggctacaaggatggcatagtggtgataattgac
atcagtaagaaaggagaagttattcataggcttcgaggccatgatgatgaaatccactcc
atagcctggtgtcccctgcctggtgaagattgtttatctataaaccaagaggaaacttca
gaagaagctgaaattaccaacgggaatgctgtagcacaagctccagtaacaaaaggttgc
tacttagccactggaagcaaagatcaaaccattcgaatctggagctgttctagaggccga
ggggtgatgattttgaaattgccctttctgaagagaagaggagggggtatagacccaact
gttaaagagcgcctttggttgacactccattggcccagcaatcaaccaacacagctggta
tctagctgttttggaggtgaactgttgcaatgggatctcactcaatcttggagacggaaa
tacaccctcttcagtgcctcatcagaagggcaaaatcattcaagaattgtgtttaattta
tgtcctttacaaacagaggatgacaaacagctattactttctacatcaatggatagagat
gtaaaatgttgggacatagccaccttggagtgcagctggacccttccttcccttggtggg
tttgcatacagcctggctttctcttctgtggacataggctctttggccataggtgttggg
gatggcatgatccgtgtatggaatacactctccataaagaacaactatgatgtgaaaaat
ttttggcaaggcgtgaagtccaaggttacagcgctgtgctggcacccaaccaaggaaggt
tgcttagcttttggaactgatgatggaaaagtgggattgtatgacacctactccaacaag
cctccacagatttctagcacatatcataagaagactgtatatactttagcctgggggcca
ccagtaccccccatgtcacttggaggagaaggagacagaccttcccttgctttatacagc
tgtggaggagaagggattgtcttacagcataatccctggaagcttagtggagaagccttt
gacatcaacaaactcatcagggacaccaattcaatcaaatacaaattgcctgtacacaca
gagataagttggaaagcagatggcaaaatcatggctcttggcaatgaagatggatcaata
gaaatatttcagattcccaacctgaaactgatctgtactatccaacagcatcacaagctt
gtgaataccattagctggcatcatgagcatggcagccagccagaattgagctatctgatg
gcctctggctccaacaatgcagtcatttacgtgcacaacctgaagactgtcatagagagc
agccctgagtctccagtgaccattacagagccctaccggaccctctcagggcatacggcc
aagattaccagtgtggcgtggagcccacatcatgatggaaggctggtatctgcttcctat
gatggtacagcccaggtgtgggatgctctccgggaagagcccctgtgcaatttccgagga
catcgaggtcgactgctttgtgtggcatggtctcctttggatccagactgcatctattca
ggggcagatgacttttgtgtgcacaagtggctcacttccatgcaagatcattcccggcct
cctcaaggcaaaaaaagtattgaattggagaaaaaacggctctctcaacctaaggcaaag
cccaaaaagaagaaaaagcccaccttgagaactcctgtaaagctggaatcgattgatgga
aatgaagaagaaagcatgaaggagaactcaggacctgttgagaatggtgtgtcagaccaa
gaaggggaggagcaagcacgggagccggaattaccctgtggccttgctccagcggtttct
agagaaccagttatctgcactccagtttcctcaggctttgaaaagtcaaaagtcaccatt
aataacaaagtcattttactgaaaaaggagccaccaaaagagaagccagaaaccttaatc
aagaagagaaaagctcgttccttgcttcccctgagtacaagcctggaccacagatccaaa
gaggagcttcatcaggactgtttggtactagcaactgcaaagcactccagagagctgaat
gaagatgtgtctgctgatgttgaggaaagatttcatctggggcttttcacagacagggct
accctgtatagaatgattgatattgaaggaaaaggtcacttagaaaatggccaccctgag
ttatttcaccagcttatgctttggaaaggagatctcaaaggtgttctccagactgcagca
gaaagaggggagctgacagacaaccttgtggctatggcaccagcagctggctaccatgtg
tggctatgggctgtggaagcttttgccaaacagctgtgttttcaggatcagtatgtcaag
gctgcttctcacctactttccatccacaaagtgtatgaagcggtggagctgctcaagtca
aaccatttttacagggaagctattgcgattgccaaggcccggctgcgcccggaggaccca
gtcctgaaggacttgtacctcagctggggaaccgtcctagaaagagatggccactatgct
gtagctgccaaatgctatttaggggccacttgtgcttatgatgcagccaaagttttggcc
aaaaagggggatgcggcatcacttagaacggctgcagagttggctgccatcgtaggagag
gatgagttgtctgcttccctggctctcagatgtgcccaagagctgcttctggccaacaac
tgggtgggagcccaggaagccctgcagctgcatgaaagtctacagggtcagagattggtg
ttttgccttctggagctactgtccaggcatctggaggaaaagcagctttcagagggcaaa
agctcctcctcttaccacacttggaacacgggcaccgaagggcctttcgtggagagggtg
actgcagtgtggaagagcatcttcagccttgacacccctgagcagtatcaggaagccttt
cagaagctgcagaacatcaagtacccatctgctacaaataacacacctgccaaacagctc
ctgcttcacatttgccatgacttgaccctggcagtgctgagccaacagatggcctcctgg
gacgaggctgtgcaggcgctccttcgggcggtggtccggagctatgactcagggagcttc
accatcatgcaggaagtgtactcagcctttctccctgacggctgtgaccacctaagagac
aagttgggggaccatcaatcccctgccacaccagctttcaaaagtttggaggcctttttt
ctttatgggcgtctgtatgaattctggtggtctctctccagaccttgcccaaattccagt
gtctgggtaagggctggtcacagaacactctctgttgagccaagccagcagttagacact
gccagcactgaagaaacggaccctgaaacttctcagccagagccaaacaggccttcagaa
ctagacttgagactcacagaagaaggtgagcgaatgctgagtacttttaaggagctcttt
tcagaaaagcatgccagtctccaaaactcacagagaactgttgctgaagtccaagagacc
ttggcagaaatgatccgacaacaccaaaagagtcaactctgtaaatccacagcaaatggt
cctgataagaatgaaccggaagtagaagcagagcagcccctctgcagttctcagagccag
tgtaaagaagaaaaaaatgagccactttctctgcctgagttaaccaaaaggcttaccgag
gcaaatcagagaatggcgaaatttcctgagagcattaaggcctggcccttcccagatgtg
ctggagtgctgcctcgtcctgcttctcatcaggtcccactttcctggctgtctggcccag
gaaatgcagcagcaggcccaagagctccttcagaaatacggcaacacgaaaacttacaga
agacactgccagaccttctgtatgtga

KEGG   Homo sapiens (human): 54960
Entry
54960             CDS       T01001                                 
Symbol
GEMIN8, FAM51A1
Name
(RefSeq) gem-associated protein 8
  KO
K13136  gem associated protein 8
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    54960 (GEMIN8)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    54960 (GEMIN8)
SSDB
Motif
Pfam: GEMIN8
Other DBs
NCBI-GeneID: 54960
NCBI-ProteinID: NP_001035944
OMIM: 300962
HGNC: 26044
Ensembl: ENSP00000505429.1
UniProt: Q9NWZ8
Structure
LinkDB
Position
X:complement(13984185..14029892)
AA seq 242 aa
MAAVKASTSKATRPWYSHPVYARYWQHYHQAMAWMQSHHNAYRKAVESCFNLPWYLPSAL
LPQSSYDNEAAYPQSFYDHHVAWQDYPCSSSHFRRSGQHPRYSSRIQASTKEDQALSKEE
EMETESDAEVECDLSNMEITEELRQYFAETERHREERRRQQQLDAERLDSYVNADHDLYC
NTRRSVEAPTERPGERRQAEMKRLYGDSAAKIQAMEAAVQLSFDKHCDRKQPKYWPVIPL
KF
NT seq 729 nt   +upstreamnt  +downstreamnt
atggcagcggtaaaggcatcaacatcgaaagctaccaggccttggtattctcatccggta
tatgcaagatactggcaacattatcatcaagcaatggcttggatgcaaagccatcacaat
gcctacaggaaggccgtggaatcctgtttcaatcttccatggtacttaccttctgcgctt
cttccccaaagctcttacgataatgaggctgcgtatcctcagtccttctatgaccatcat
gtggcctggcaggactacccctgcagttcttcacatttcagaagatctgggcagcatcca
cgttacagcagtaggatccaggcatccacaaaagaagaccaagctttgtccaaagaggaa
gagatggagactgagtcagatgcagaggtagaatgtgacctgagcaatatggaaatcact
gaagagctccgccagtactttgcagagaccgagaggcatagagaagaacgacggcggcag
cagcagctggatgcagagcgcctggacagctatgtgaacgctgaccacgacctgtactgc
aacacccgccggtcggtagaagccccaactgagaggcctggtgagcggcgccaggccgag
atgaagcgtttgtacggggacagtgctgccaagatccaagccatggaggccgcggtgcag
ctgagctttgacaagcactgtgaccgaaagcagcccaagtactggccggtcatccccctg
aagttctga

KEGG   Homo sapiens (human): 79833
Entry
79833             CDS       T01001                                 
Symbol
GEMIN6
Name
(RefSeq) gem-associated protein 6
  KO
K13134  gem associated protein 6
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    79833 (GEMIN6)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    79833 (GEMIN6)
SSDB
Motif
Pfam: Gemin6_C Gemin6 AD Ish1
Other DBs
NCBI-GeneID: 79833
NCBI-ProteinID: NP_079051
OMIM: 607006
HGNC: 20044
Ensembl: ENSP00000281950.2
UniProt: Q8WXD5
Structure
LinkDB
Position
2:38778210..38785002
AA seq 167 aa
MSEWMKKGPLEWQDYIYKEVRVTASEKNEYKGWVLTTDPVSANIVLVNFLEDGSMSVTGI
MGHAVQTVETMNEGDHRVREKLMHLFTSGDCKAYSPEDLEERKNSLKKWLEKNHIPITEQ
GDAPRTLCVAGVLTIDPPYGPENCSSSNEIILSRVQDLIEGHLTASQ
NT seq 504 nt   +upstreamnt  +downstreamnt
atgagtgaatggatgaagaaaggccccttagaatggcaagattacatttacaaagaggtc
cgagtgacagccagtgagaagaatgagtataaaggatgggttttaactacagacccagtc
tctgccaatattgtccttgtgaacttccttgaagatggcagcatgtctgtgaccggaatt
atgggacatgctgtgcagactgttgaaactatgaatgaaggggaccatagagtgagggag
aagctgatgcatttgttcacgtctggagactgcaaagcatacagcccagaggatctggaa
gagagaaagaacagcctaaagaaatggcttgagaagaaccacatccccatcactgaacag
ggagacgctccaaggactctctgtgtggctggggtcctgactatagacccaccatatggt
ccagaaaattgcagcagctctaatgagattattctgtcgcgtgttcaggatcttattgaa
ggacatcttacagcttcccaatga

KEGG   Homo sapiens (human): 79760
Entry
79760             CDS       T01001                                 
Symbol
GEMIN7, SIP3
Name
(RefSeq) gem-associated protein 7
  KO
K13135  gem associated protein 7
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    79760 (GEMIN7)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    79760 (GEMIN7)
SSDB
Motif
Pfam: Gemin7 SUZ-C DUF896
Other DBs
NCBI-GeneID: 79760
NCBI-ProteinID: NP_001007270
OMIM: 607419
HGNC: 20045
UniProt: Q9H840
Structure
LinkDB
Position
19:45075627..45091518
AA seq 131 aa
MQTPVNIPVPVLRLPRGPDGFSRGFAPDGRRAPLRPEVPEIQECPIAQESLESQEQRARA
ALRERYLRSLLAMVGHQVSFTLHEGVRVAAHFGATDLDVANFYVSQLQTPIGVQAEALLR
CSDIISYTFKP
NT seq 396 nt   +upstreamnt  +downstreamnt
atgcaaactccagtgaacattcccgtgcctgtgctccggctgccccggggccctgatggc
ttcagccgtggctttgcccctgatggacgcagagcccccttgaggccagaggttcctgaa
atccaggagtgtcccatagctcaagaatccctggaatcccaggagcagcgggcacgagcc
gcccttcgggagcgttacctccgcagcctgctggccatggtgggtcatcaggtgagcttc
acgttgcacgagggtgtgcgtgtggccgcccactttggagccaccgacctggatgtggcc
aacttctacgtgtcacagctgcagactcccataggtgtgcaagcagaggcgctgctccga
tgtagtgacattatttcatataccttcaagccataa

KEGG   Homo sapiens (human): 11171
Entry
11171             CDS       T01001                                 
Symbol
STRAP, MAWD, PT-WD, UNRIP
Name
(RefSeq) serine-threonine kinase receptor-associated protein
  KO
K13137  serine-threonine kinase receptor-associated protein
Organism
hsa  Homo sapiens (human)
Network
nt06547  Spliceosome
  Element
N01963  Sm core assembly and 3 end processing of pre U1 snRNA
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    11171 (STRAP)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    11171 (STRAP)
SSDB
Motif
Pfam: WD40 EIF3I Beta-prop_WDR5 Beta-prop_THOC3 Beta-prop_IFT122_1st Beta-prop_WDR3_1st WD40_Prp19 WD40_WDHD1_1st WD40_CDC20-Fz Beta-prop_WDR36-Utp21_2nd Beta-prop_WDR3_2nd Beta-prop_EML_2 WDR55 Beta-prop_TEP1_2nd WD40_Gbeta Beta-prop_CAF1B_HIR1 Beta-prop_WDR90_POC16_2nd Beta-prop_NOL10_N WD40_MABP1-WDR62_2nd Beta-prop_WDR75_1st Beta-prop_TEP1_C Beta-prop_EML ANAPC4_WD40 Beta-prop_EIPR1 NBCH_WD40 CFAP251_N Beta-prop_IFT140_1st Beta-prop_WDR36-Utp21_1st WDR90_beta-prop_4th Beta-prop_Aladin PAC11 Beta-prop_SCAP DSE1_N Beta-prop_RIG_2nd WD40_MABP1-WDR62_1st Beta-prop_WDR41 Beta-prop_WDR19_1st Beta-prop_ACSF4 Beta-prop_WDR35_TULP_N UCP007778 Beta-prop_Vps41 Beta-prop_IP5PC_F Beta-prop_NWD2_C Mala_s_1-like
Other DBs
NCBI-GeneID: 11171
NCBI-ProteinID: NP_009109
OMIM: 605986
HGNC: 30796
Ensembl: ENSP00000392270.2
UniProt: Q9Y3F4
LinkDB
Position
12:15882387..15903478
AA seq 350 aa
MAMRQTPLTCSGHTRPVVDLAFSGITPYGYFLISACKDGKPMLRQGDTGDWIGTFLGHKG
AVWGATLNKDATKAATAAADFTAKVWDAVSGDELMTLAHKHIVKTVDFTQDSNYLLTGGQ
DKLLRIYDLNKPEAEPKEISGHTSGIKKALWCSEDKQILSADDKTVRLWDHATMTEVKSL
NFNMSVSSMEYIPEGEILVITYGRSIAFHSAVSLDPIKSFEAPATINSASLHPEKEFLVA
GGEDFKLYKYDYNSGEELESYKGHFGPIHCVRFSPDGELYASGSEDGTLRLWQTVVGKTY
GLWKCVLPEEDSGELAKPKIGFPETTEEELEEIASENSDCIFPSAPDVKA
NT seq 1053 nt   +upstreamnt  +downstreamnt
atggcaatgagacagacgccgctcacctgctctggccacacgcgacccgtggttgatttg
gccttcagtggcatcacgccttatgggtatttcttaatcagcgcttgcaaagatggtaaa
cctatgctacgccagggagatacaggagactggattggaacatttttgggtcataaaggt
gctgtttggggtgcaacactgaataaggatgccaccaaagcagctacagcagctgcagat
ttcacagccaaagtgtgggatgctgtctcaggagatgaattgatgaccctggctcataaa
cacattgtcaagactgtggatttcacgcaggatagtaattatttgttaaccgggggacag
gataaactgttacgcatatatgacttgaacaaacctgaagcagaacctaaggaaattagt
ggtcatacttctggtataaaaaaagctctgtggtgcagtgaggataaacagattctttct
gctgatgacaaaactgttcgactttgggatcatgctactatgacagaagtgaaatctcta
aattttaatatgtctgttagtagtatggaatatattcctgagggagagattttggttata
acttatggacgatctattgcttttcatagtgcagtaagtttggacccaattaaatccttt
gaagctcctgcaaccatcaattctgcatctcttcatcctgagaaagaatttcttgttgca
ggcggtgaagattttaaactttataagtatgattataatagtggagaagaattagaatcc
tacaagggacactttggtcctattcactgtgtgagatttagtcctgatggagaactctat
gccagtggttcagaagatggaacattgagactatggcaaactgtggtaggaaaaacgtat
ggcctttggaaatgtgtgcttcctgaagaagatagtggtgagctggcaaagccaaagatt
ggttttccagagacaacagaagaggagctagaagaaattgcttcagagaattcagattgc
atctttccttcagctcctgatgttaaggcctga

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