KEGG   Homo sapiens (human): 4287
Entry
4287              CDS       T01001                                 
Symbol
ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3
Name
(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
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06532  Autophagy
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N01717  Regulation of autophagy-vesicle nucleation/elongation/maturation, ATXN3
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)
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 UIM_2 DUF3682 WEF-hand
Other DBs
NCBI-GeneID: 4287
NCBI-ProteinID: NP_004984
OMIM: 607047
HGNC: 7106
Ensembl: ENSG00000066427
UniProt: P54252
Structure
Position
14:complement(92044775..92106582)
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

  All links  
Disease (3)   
   OMIM (3)   
Gene (21)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (15)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (881)   
   RefSeq(nuc) (35)   
   GenBank (423)   
   EMBL (423)   
3D Structure (7)   
   PDB (7)   
Protein domain (6)   
   Pfam (6)   
All databases (933)   

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