InnateDB Protein
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IDBP-594847.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATXN3
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Protein Name
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ataxin 3
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Synonyms
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AT3; ATX3; JOS; MJD; MJD1; SCA3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000437157
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InnateDB Gene
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IDBG-16734 (ATXN3)
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Protein Structure
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Function |
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone- binding protein that regulates transcription. {ECO:0000269PubMed:12297501, ECO:0000269PubMed:16118278, ECO:0000269PubMed:17696782, ECO:0000269PubMed:23625928}.
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Subcellular Localization |
Nucleus matrix {ECO:0000269PubMed:9580663}. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.
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Disease Associations |
Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269PubMed:7874163}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
107
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
9 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003903
Ubiquitin interacting motif
IPR006155
Machado-Joseph disease protein MJD
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PFAM |
PF02809
PF02099
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PRINTS |
PR01233
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PIRSF |
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SMART |
SM00726
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TIGRFAMs |
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Modification |
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SwissProt |
P54252
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PhosphoSite |
PhosphoSite-P54252
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TrEMBL |
G3V4F4
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UniProt Splice Variant |
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Entrez Gene |
4287
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UniGene |
Hs.633936
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RefSeq |
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HUGO |
HGNC:7106
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OMIM |
607047
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CCDS |
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HPRD |
06131
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IMGT |
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EMBL |
AB038653
AB050194
AL049872
AL121773
BC033711
CH471061
EU009923
GQ176474
GQ176511
GQ176551
GQ176644
GQ176697
GQ176725
S75313
U64820
U64821
U64822
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GenPept |
AAB33571
AAB63352
AAB63353
AAB63354
AAH33711
ABS29269
ADD00649
ADD00663
ADD00679
ADD00718
ADD00741
ADD00755
BAB18798
BAB55645
BAB55646
EAW81472
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