Homo sapiens Gene: ATXN3
Summary
InnateDB Gene IDBG-16734.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATXN3
Gene Name ataxin 3
Synonyms AT3; ATX3; JOS; MJD; MJD1; SCA3;
Species Homo sapiens
Ensembl Gene ENSG00000066427
Encoded Proteins
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
ataxin 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 14:92038652-92106621
Strand Reverse strand
Band q32.12
Transcripts
ENST00000359366 ENSP00000352324
ENST00000340660 ENSP00000339110
ENST00000393287 ENSP00000376965
ENST00000454964
ENST00000429774 ENSP00000389376
ENST00000502250 ENSP00000425322
ENST00000503767 ENSP00000426697
ENST00000515746 ENSP00000422073
ENST00000506466 ENSP00000435571
ENST00000511362
ENST00000507965
ENST00000504047
ENST00000526245
ENST00000532032 ENSP00000437157
ENST00000555381 ENSP00000451001
ENST00000557311 ENSP00000450642
ENST00000555816 ENSP00000451910
ENST00000554592 ENSP00000451385
ENST00000556315 ENSP00000451132
ENST00000556898 ENSP00000451769
ENST00000554672 ENSP00000451417
ENST00000557030 ENSP00000452139
ENST00000556644
ENST00000553488 ENSP00000452461
ENST00000554040
ENST00000556958 ENSP00000452532
ENST00000556374 ENSP00000451399
ENST00000553491 ENSP00000451996
ENST00000553686
ENST00000554214
ENST00000556288 ENSP00000450566
ENST00000556274 ENSP00000451733
ENST00000556339
ENST00000555958
ENST00000553570 ENSP00000451405
ENST00000554994 ENSP00000451771
ENST00000556671 ENSP00000451693
ENST00000554350 ENSP00000451103
ENST00000556220 ENSP00000450641
ENST00000553287
ENST00000553309
ENST00000554491
ENST00000553498
ENST00000556082 ENSP00000450492
ENST00000554673 ENSP00000452356
ENST00000526872 ENSP00000474067
ENST00000545170 ENSP00000445618
ENST00000620536 ENSP00000484016
ENST00000621269 ENSP00000481390
ENST00000617719 ENSP00000481998
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 107 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 107 [view]
Protein-Protein 107 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004221 ubiquitin thiolesterase activity
GO:0004843 ubiquitin-specific protease activity
GO:0005515 protein binding
GO:0008242 omega peptidase activity
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0051117 ATPase binding
GO:0061578 Lys63-specific deubiquitinase activity
GO:1990380 Lys48-specific deubiquitinase activity
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0006289 nucleotide-excision repair
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0006515 misfolded or incompletely synthesized protein catabolic process
GO:0007268 synaptic transmission
GO:0007399 nervous system development
GO:0008219 cell death
GO:0010810 regulation of cell-substrate adhesion
GO:0030036 actin cytoskeleton organization
GO:0035520 monoubiquitinated protein deubiquitination
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045104 intermediate filament cytoskeleton organization
GO:0070536 protein K63-linked deubiquitination
GO:0071108 protein K48-linked deubiquitination
GO:0071218 cellular response to misfolded protein
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016363 nuclear matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.633936
RefSeq NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660
HUGO
OMIM
CCDS CCDS32143 CCDS45154 CCDS53908 CCDS73680 CCDS9900
HPRD 06131
IMGT
EMBL
GenPept
RNA Seq Atlas