KEGG   Homo sapiens (human): 11273
Entry
11273             CDS       T01001                                 

Gene name
ATXN2L, A2D, A2LG, A2LP, A2RP
Definition
(RefSeq) ataxin 2 like
  KO
K23625  ataxin 2/2L
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    11273 (ATXN2L)
   05017 Spinocerebellar ataxia
    11273 (ATXN2L)
   05022 Pathways of neurodegeneration - multiple diseases
    11273 (ATXN2L)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    11273 (ATXN2L)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   mRNA cycle factors
    Common to processing body (P body) and stress granule
     11273 (ATXN2L)
SSDB
Motif
Pfam: SM-ATX LsmAD PAM2 LSM14
Other DBs
NCBI-GeneID: 11273
NCBI-ProteinID: NP_009176
OMIM: 607931
HGNC: 31326
Ensembl: ENSG00000168488
Vega: OTTHUMG00000097038
Pharos: Q8WWM7(Tbio)
UniProt: Q8WWM7
LinkDB
Position
16p11.2
AA seq 1075 aa
MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLG
PVAAAGSGLRRGAEGILAPQPPPPQQHQERPGAAAIGSARGQSTGKGPPQSPVFEGVYNN
SRMLHFLTAVVGSTCDVKVKNGTTYEGIFKTLSSKFELAVDAVHRKASEPAGGPRREDIV
DTMVFKPSDVMLVHFRNVDFNYATKDKFTDSAIAMNSKVNGEHKEKVLQRWEGGDSNSDD
YDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLA
REIESSPQYRLRIAMENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGP
RGGVRCSSSRGGRPGLSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAK
TLSSPSNRPSGETSVPPPPAVGRMYPPRSPKSAAPAPISASCPEPPIGSAVPTSSASIPV
TSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELARIAGKVPGLQNEQKRF
QLEELRKFGAQFKLQPSSSPENSLDPFPPRILKEEPKGKEKEVDGLLTSEPMGSPVSSKT
ESVSDKEDKPPLAPSGGTEGPEQPPPPCPSQTGSPPVGLIKGEDKDEGPVAEQVKKSTLN
PNAKEFNPTKPLLSVNKSTSTPTSPGPRTHSTPSIPVLTAGQSGLYSPQYISYIPQIHMG
PAVQAPQMYPYPVSNSVPGQQGKYRGAKGSLPPQRSDQHQPASAPPMMQAAAAAGPPLVA
ATPYSSYIPYNPQQFPGQPAMMQPMAHYPSQPVFAPMLQSNPRMLTSGSHPQAIVSSSTP
QYPSAEQPTPQALYATVHQSYPHHATQLHAHQPQPATTPTGSQPQSQHAAPSPVQHQAGQ
APHLGSGQPQQNLYHPGALTGTPPSLPPGPSAQSPQSSFPQPAAVYAIHHQQLPHGFTNM
AHVTQAHVQTGITAAPPPHPGAPHPPQVMLLHPPQSHGGPPQGAVPQSGVPALSASTPSP
YPYIGHPQGEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE
NT seq 3228 nt   +upstreamnt  +downstreamnt
atgttgaagcctcagccgctacaacagccctcccagccccagcagccgccccccacgcaa
caggccgtggcccgtcggccccccgggggcaccagccctcccaacggcggcctcccgggg
ccgctggccacctctgcggctcctcccgggcctccagcggccgcctccccctgcctgggg
cctgtggccgctgccgggagcgggctccgccggggagccgaaggcatcttggcgccgcag
ccgccgccgccgcagcaacaccaggagaggccgggggcagccgccatcggcagcgccagg
ggacagagcacaggaaagggacccccacagtcacctgtgtttgaaggcgtctacaacaat
tccagaatgctgcatttccttacagctgttgtgggctccacttgtgatgtaaaggtgaaa
aatggtaccacttatgagggtatcttcaagacgctaagctcaaagtttgaactagccgtg
gatgctgtgcaccggaaagcatctgagccagcaggtggccctcgtcgggaggacattgtg
gacaccatggtgtttaagccaagtgatgtcatgcttgttcacttccgaaatgttgacttc
aactatgctactaaagacaagttcaccgattcagccattgccatgaactcgaaagtgaat
ggggaacacaaagagaaggtgcttcagcgctgggaggggggtgacagcaacagcgacgac
tatgacctcgagtctgacatgtccaatggatgggaccccaatgaaatgttcaagttcaat
gaggagaactacggtgtgaagactacctatgatagcagtctttcttcttatacggtgccc
ttagaaaaggacaactcagaagagtttcgtcagcgagagctgcgtgcggcccagttggct
cgagagattgaatcaagcccccagtaccgcctacggatcgccatggagaacgacgatggg
cgcactgaagaggagaagcacagtgcagtccagcggcagggctcagggcgggagagcccc
agcttggcatccagggaggggaagtatatccctctgcctcaacgagtccgggaaggtccc
cggggaggagttcgatgcagcagctctcggggcggtcggcctggccttagctctttgcca
cctcgtggccctcaccatctggacaacagcagccctggcccaggttctgaggcccgtggt
atcaatggaggcccttcccgcatgtccccaaaggcacaacggcctctgagaggtgccaag
actctgtcttcgcccagtaataggccttctggagaaacttctgttccacctcctcctgca
gtgggccggatgtatcccccgcgttctcccaagtctgctgcccctgccccaatctcagct
tcctgtccagagcctcccatcggctcggcagtgccaacctcttcagcctccatccctgtg
acctcatcagtctcagatcctggagtgggctccatttctccagcttctccaaagatctcc
ctggcccccacagatgtaaaagaactctctaccaaggaacctgggagaactctggagccc
caggagctggctcggatagctgggaaagtccctggtcttcagaatgaacagaaacgattc
caactggaagaactgagaaagtttggggcccagtttaagcttcagcccagtagctcccct
gagaacagcctggatccttttcctccccggatcttaaaggaggagcccaaaggaaaggag
aaagaggttgatggtctgttgacttcagagcccatggggtctcccgtctcctccaagaca
gagtccgtatcggataaggaggacaaaccacccctggcaccatcaggaggcactgagggg
ccagagcagcccccaccaccttgtccaagccaaactggcagccccccggtgggcctcatc
aagggagaagacaaagatgagggccctgttgctgaacaagtaaagaaatcaacgttgaac
cctaatgctaaggagttcaatcctacaaagcctctgctgtctgtgaataaatccaccagt
accccaacttctccggggccccggactcattcaactccctccatcccggtgctgacagca
ggccagagtgggctatacagcccccagtacatctcctacatacctcagatccacatggga
ccagctgtgcaggcacctcagatgtatccatatcctgtatccaattcagtgcctgggcag
cagggcaagtaccggggagcaaaaggctcccttcctccgcagcgctcggaccaacaccag
ccagcctcagccccgccgatgatgcaggccgccgcggctgctggcccgcctctggtggct
gccacgccctattcttcctacatcccctacaaccctcagcagttcccaggccagccagcc
atgatgcagcccatggcccactacccctcacagccggtgtttgcccccatgcttcagagc
aacccacgcatgctgacgtcgggcagccatccccaggccatcgtgtcatcctctacccct
cagtacccttctgcagagcagcctaccccccaagccctttatgccactgttcaccagtcc
tacccacaccatgccacacagctccatgcccaccagccgcagccggctaccacgcctact
ggaagccagccgcagtcccagcatgcggcccccagtcctgtccagcatcaggcggggcag
gccccacacttgggcagtggacagccacagcagaatctgtaccacccaggggccctgaca
ggcacgccgccctctctgccaccgggaccttctgcccagtcccctcagagcagcttcccc
cagccagccgctgtgtatgccatccaccaccagcagctgccccacggcttcaccaacatg
gcccatgttacccaggcccatgtccaaactggaatcacagcagccccgccccctcaccct
ggggctccccacccgccccaggtgatgctgctgcacccaccccagagtcatggggggccc
ccccaaggcgcggtgccccagagtggggtgcctgcactctcagcttccacaccctcaccc
tacccctacatcggacacccccaaggtgagcagcctggccaggcgcctggatttccagga
ggagccgatgacaggattcgtgagttctcattagctgggggaatttggcatggaagagct
gaggggctgcaggtggggcaggatgcacgggttctgggtggggagtga

KEGG   Homo sapiens (human): 4287
Entry
4287              CDS       T01001                                 

Gene name
ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3
Definition
(RefSeq) ataxin 3
  KO
K11863  Ataxin-3 [EC:3.4.22.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06410  Calcium signaling
nt06413  Autophagy
nt06462  Spinocerebellar ataxia
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
Disease
H00063  Spinocerebellar ataxia (SCA)
H01478  Machado-Joseph disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    4287 (ATXN3)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    4287 (ATXN3)
   05022 Pathways of neurodegeneration - multiple diseases
    4287 (ATXN3)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    4287 (ATXN3)
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    4287 (ATXN3)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.22  Cysteine endopeptidases
    3.4.22.-  
     4287 (ATXN3)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C86
   4287 (ATXN3)
Ubiquitin system [BR:hsa04121]
 Deubiquitinating enzyme (DUB)
  Ubiquitin-specific proteases (UBPs)
   MJD
    4287 (ATXN3)
SSDB
Motif
Pfam: Josephin SUIM_assoc UIM DUF3682
Other DBs
NCBI-GeneID: 4287
NCBI-ProteinID: NP_004984
OMIM: 607047
HGNC: 7106
Ensembl: ENSG00000066427
Vega: OTTHUMG00000162212
Pharos: P54252(Tbio)
UniProt: P54252
LinkDB
Structure
PDB: 
2KLZ 2JRI 2DOS 2AGA 1YZB

Position
14q32.12
AA seq 361 aa
MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRT
FLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHW
FTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQM
IRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEI
DMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQ
QQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGK
K
NT seq 1086 nt   +upstreamnt  +downstreamnt
atggagtccatcttccacgagaaacaagaaggctcactttgtgctcaacattgcctgaat
aacttattgcaaggagaatattttagccctgtggaattatcctcaattgcacatcagctg
gatgaggaggagaggatgagaatggcagaaggaggagttactagtgaagattatcgcacg
tttttacagcagccttctggaaatatggatgacagtggttttttctctattcaggttata
agcaatgccttgaaagtttggggtttagaactaatcctgttcaacagtccagagtatcag
aggctcaggatcgatcctataaatgaaagatcatttatatgcaattataaggaacactgg
tttacagttagaaaattaggaaaacagtggtttaacttgaattctctcttgacgggtcca
gaattaatatcagatacatatcttgcacttttcttggctcaattacaacaggaaggttat
tctatatttgtcgttaagggtgatctgccagattgcgaagctgaccaactcctgcagatg
attagggtccaacagatgcatcgaccaaaacttattggagaagaattagcacaactaaaa
gagcaaagagtccataaaacagacctggaacgagtgttagaagcaaatgatggctcagga
atgttagacgaagatgaggaggatttgcagagggctctggcactaagtcgccaagaaatt
gacatggaagatgaggaagcagatctccgcagggctattcagctaagtatgcaaggtagt
tccagaaacatatctcaagatatgacacagacatcaggtacaaatcttacttcagaagag
cttcggaagagacgagaagcctactttgaaaaacagcagcaaaagcagcaacagcagcag
cagcagcagcagcagggggacctatcaggacagagttcacatccatgtgaaaggccagcc
accagttcaggagcacttgggagtgatctaggtgatgctatgagtgaagaagacatgctt
caggcagctgtgaccatgtctttagaaactgtcagaaatgatttgaaaacagaaggaaaa
aaataa

KEGG   Homo sapiens (human): 6311
Entry
6311              CDS       T01001                                 

Gene name
ATXN2, ATX2, SCA2, TNRC13
Definition
(RefSeq) ataxin 2
  KO
K23625  ataxin 2/2L
Organism
hsa  Homo sapiens (human)
Pathway
hsa05014  Amyotrophic lateral sclerosis
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06410  Calcium signaling
nt06462  Spinocerebellar ataxia
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
Disease
H00063  Spinocerebellar ataxia (SCA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    6311 (ATXN2)
   05017 Spinocerebellar ataxia
    6311 (ATXN2)
   05022 Pathways of neurodegeneration - multiple diseases
    6311 (ATXN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    6311 (ATXN2)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   mRNA cycle factors
    Common to processing body (P body) and stress granule
     6311 (ATXN2)
SSDB
Motif
Pfam: SM-ATX LsmAD PAM2 LSM
Other DBs
NCBI-GeneID: 6311
NCBI-ProteinID: NP_002964
OMIM: 601517
HGNC: 10555
Ensembl: ENSG00000204842
Vega: OTTHUMG00000133475
Pharos: Q99700(Tbio)
UniProt: Q99700
LinkDB
Position
12q24.12
AA seq 1153 aa
MSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVS
SSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKC
EVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQF
KDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPND
MFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVAL
ENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPG
SGSMPSRSTSHTSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAAT
PTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGR
GSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGN
TPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPA
GNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLN
KNREGEKSRDLIKDKIEPSAKDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEV
TSQGVQTSSPACKQEKDDKEEKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRP
QAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVSPGVQPLYPIPMTPMPVNQAKTYRAV
PNMPQQRQDQHHQSAMMHPASAAGPPIAATPPAYSTQYVAYSPQQFPNQPLVQHVPHYQS
QHPHVYSPVIQGNARMMAPPTHAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSF
YFAISTGSLAQQYAHPNATLHPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQ
ALHLASPQQQSAIYHAGLAPTPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNP
PHMAHVPQAHVQSGMVPSHPTAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYM
THPSVQAHHQQQL
NT seq 3462 nt   +upstreamnt  +downstreamnt
atgtcgctgaagccccagcagcagcagcagcagcagcagcagcagcagcagcagcaacag
cagcagcagcagcagcagcagcagccgccgcccgcggctgccaatgtccgcaagcccggc
ggcagcggccttctagcgtcgcccgccgccgcgccttcgccgtcctcgtcctcggtctcc
tcgtcctcggccacggctccctcctcggtggtcgcggcgacctccggcggcgggaggccc
ggcctgggcagaggtcgaaacagtaacaaaggactgcctcagtctacgatttcttttgat
ggaatctatgcaaatatgaggatggttcatatacttacatcagttgttggctccaaatgt
gaagtacaagtgaaaaatggaggtatatatgaaggagtttttaaaacttacagtccgaag
tgtgatttggtacttgatgccgcacatgagaaaagtacagaatccagttcggggccgaaa
cgtgaagaaataatggagagtattttgttcaaatgttcagactttgttgtggtacagttt
aaagatatggactccagttatgcaaaaagagatgcttttactgactctgctatcagtgct
aaagtgaatggcgaacacaaagagaaggacctggagccctgggatgcaggtgaactcaca
gccaatgaggaacttgaggctttggaaaatgacgtatctaatggatgggatcccaatgat
atgtttcgatataatgaagaaaattatggtgtagtgtctacgtatgatagcagtttatct
tcgtatacagtgcccttagaaagagataactcagaagaatttttaaaacgggaagcaagg
gcaaaccagttagcagaagaaattgagtcaagtgcccagtacaaagctcgagtggccctg
gaaaatgatgataggagtgaggaagaaaaatacacagcagttcagagaaattccagtgaa
cgtgaggggcacagcataaacactagggaaaataaatatattcctcctggacaaagaaat
agagaagtcatatcctggggaagtgggagacagaattcaccgcgtatgggccagcctgga
tcgggctccatgccatcaagatccacttctcacacttcagatttcaacccgaattctggt
tcagaccaaagagtagttaatggaggtgttccctggccatcgccttgcccatctccttcc
tctcgcccaccttctcgctaccagtcaggtcccaactctcttccacctcgggcagccacc
cctacacggccgccctccaggcccccctcgcggccatccagacccccgtctcacccctct
gctcatggttctccagctcctgtctctactatgcctaaacgcatgtcttcagaagggcct
ccaaggatgtccccaaaggcccagcgacatcctcgaaatcacagagtttctgctgggagg
ggttccatatccagtggcctagaatttgtatcccacaacccacccagtgaagcagctact
cctccagtagcaaggaccagtccctcggggggaacgtggtcatcagtggtcagtggggtt
ccaagattatcccctaaaactcatagacccaggtctcccagacagaacagtattggaaat
acccccagtgggccagttcttgcttctccccaagctggtattattccaactgaagctgtt
gccatgcctattccagctgcatctcctacgcctgctagtcctgcatcgaacagagctgtt
accccttctagtgaggctaaagattccaggcttcaagatcagaggcagaactctcctgca
gggaataaagaaaatattaaacccaatgaaacatcacctagcttctcaaaagctgaaaac
aaaggtatatcaccagttgtttctgaacatagaaaacagattgatgatttaaagaaattt
aagaatgattttaggttacagccaagttctacttctgaatctatggatcaactactaaac
aaaaatagagagggagaaaaatcaagagatttgatcaaagacaaaattgaaccaagtgct
aaggattctttcattgaaaatagcagcagcaactgtaccagtggcagcagcaagccgaat
agccccagcatttccccttcaatacttagtaacacggagcacaagaggggacctgaggtc
acttcccaaggggttcagacttccagcccagcatgtaaacaagagaaagacgataaggaa
gagaagaaagacgcagctgagcaagttaggaaatcaacattgaatcccaatgcaaaggag
ttcaacccacgttccttctctcagccaaagccttctactaccccaacttcacctcggcct
caagcacaacctagcccatctatggtgggtcatcaacagccaactccagtttatactcag
cctgtttgttttgcaccaaatatgatgtatccagtcccagtgagcccaggcgtgcaacct
ttatacccaatacctatgacgcccatgccagtgaatcaagccaagacatatagagcagta
ccaaatatgccccaacagcggcaagaccagcatcatcagagtgccatgatgcacccagcg
tcagcagcgggcccaccgattgcagccaccccaccagcttactccacgcaatatgttgcc
tacagtcctcagcagttcccaaatcagccccttgttcagcatgtgccacattatcagtct
cagcatcctcatgtctatagtcctgtaatacagggtaatgctagaatgatggcaccacca
acacacgcccagcctggtttagtatcttcttcagcaactcagtacggggctcatgagcag
acgcatgcgatgtatgcatgtcccaaattaccatacaacaaggagacaagcccttctttc
tactttgccatttccacgggctcccttgctcagcagtatgcgcaccctaacgctaccctg
cacccacatactccacaccctcagccttcagctacccccactggacagcagcaaagccaa
catggtggaagtcatcctgcacccagtcctgttcagcaccatcagcaccaggccgcccag
gctctccatctggccagtccacagcagcagtcagccatttaccacgcggggcttgcgcca
actccaccctccatgacacctgcctccaacacgcagtcgccacagaatagtttcccagca
gcacaacagactgtctttacgatccatccttctcacgttcagccggcgtataccaaccca
ccccacatggcccacgtacctcaggctcatgtacagtcaggaatggttccttctcatcca
actgcccatgcgccaatgatgctaatgacgacacagccacccggcggtccccaggccgcc
ctcgctcaaagtgcactacagcccattccagtctcgacaacagcgcatttcccctatatg
acgcacccttcagtacaagcccaccaccaacagcagttgtaa

KEGG   Homo sapiens (human): 92552
Entry
92552             CDS       T01001                                 

Gene name
ATXN3L, MJDL
Definition
(RefSeq) ataxin 3 like
  KO
K11863  Ataxin-3 [EC:3.4.22.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04141 Protein processing in endoplasmic reticulum
    92552 (ATXN3L)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05017 Spinocerebellar ataxia
    92552 (ATXN3L)
   05022 Pathways of neurodegeneration - multiple diseases
    92552 (ATXN3L)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    92552 (ATXN3L)
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    92552 (ATXN3L)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.4  Acting on peptide bonds (peptidases)
   3.4.22  Cysteine endopeptidases
    3.4.22.-  
     92552 (ATXN3L)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C86
   92552 (ATXN3L)
Ubiquitin system [BR:hsa04121]
 Deubiquitinating enzyme (DUB)
  Ubiquitin-specific proteases (UBPs)
   MJD
    92552 (ATXN3L)
SSDB
Motif
Pfam: Josephin SUIM_assoc UIM
Other DBs
NCBI-GeneID: 92552
NCBI-ProteinID: NP_001129467
OMIM: 300920
HGNC: 24173
Ensembl: ENSG00000123594
Vega: OTTHUMG00000021146
Pharos: Q9H3M9(Tdark)
UniProt: Q9H3M9 B4DYC7
LinkDB
Structure
PDB: 
3O65

Position
Xp22.2
AA seq 355 aa
MDFIFHEKQEGFLCAQHCLNNLLQGEYFSPVELASIAHQLDEEERMRMAEGGVTSEEYLA
FLQQPSENMDDTGFFSIQVISNALKFWGLEIIHFNNPEYQKLGIDPINERSFICNYKQHW
FTIRKFGKHWFNLNSLLAGPELISDTCLANFLARLQQQAYSVFVVKGDLPDCEADQLLQI
ISVEEMDTPKLNGKKLVKQKEHRVYKTVLEKVSEESDESGTSDQDEEDFQRALELSRQET
NREDEHLRSTIELSMQGSSGNTSQDLPKTSCVTPASEQPKKIKEDYFEKHQQEQKQQQQQ
SDLPGHSSYLHERPTTSSRAIESDLSDDISEGTVQAAVDTILEIMRKNLKIKGEK
NT seq 1068 nt   +upstreamnt  +downstreamnt
atggatttcatctttcatgagaaacaggaaggtttcctgtgtgctcagcactgtctgaac
aatctattgcaaggagaatattttagccctgtggaattagcctcaattgcacatcagcta
gatgaagaagagaggatgagaatggcagaaggaggagtcaccagtgaagagtatcttgca
tttttacagcagccttcagaaaacatggatgataccggtttcttctccattcaggtaata
agcaatgccttgaagttctggggtttagagatcatccatttcaataatcctgaatatcag
aagctcggcattgatcctataaatgaaagatcttttatatgtaattataaacaacactgg
tttactattagaaaatttggaaaacactggtttaacttgaattctctcttggcgggtcca
gaattaatatcagatacatgccttgcaaatttcttggctcgattacaacaacaagcatat
tctgtatttgttgtcaagggtgatctgccagactgtgaagctgaccaactcctgcagatc
atcagtgtcgaagagatggatacaccaaaacttaatggaaaaaaattagtaaaacaaaaa
gagcatagagtctataaaacagtccttgaaaaagtatcagaagaaagtgatgagtctgga
acatcagaccaagatgaggaggattttcagagggcccttgaactaagccgccaagaaacc
aatagagaagatgaacatctccgcagtactattgagttaagcatgcaaggtagttccgga
aacacatcgcaagatcttccaaagacatcatgtgtaactcctgcttcagaacagccgaag
aaaataaaagaagactattttgaaaagcatcagcaggaacagaagcagcagcaacaacag
tcagatctgccgggccacagttcatacctacacgaaaggccaacaacaagttcgagagca
attgagagtgatctcagtgatgacatcagtgaaggcacagtacaggccgctgtcgacacc
attttagaaattatgagaaagaatttgaaaatcaaaggggaaaaataa

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