RBCC Red Blood Cell Collection

ATX3_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ATXN3 , ATX3, MJD, MJD1, SCA3
Protein names and data: ATX3_HUMAN , Ataxin-3; 3.4.19.12 , Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein Lenght: 364 a.a.
Mass: 41781 Da
fasta formatted sequence
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.
Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).
Disease: ( OMIM: 109150 607047 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus matrix. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.
Tissue specificity: Ubiquitous.

Genetic variants

The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients. The MJD1a allele carries a single nucleotide substitution in codon 349 generating a stop codon instead of a Tyr. In the Japanese population, the MJD1a allele seems to be significantly associated with Gln expansion.

212 - 212 V -> M (in dbSNP:rs1048755). VAR_013688 1048755
306 - 306 G -> QQQQQQQQQQQQR. VAR_013689
349 - 364 Missing (in allele MJD1a). VAR_013690

Database cross-references

UniProt: P54252
Ensembl: ENST00000340660
Ensembl: ENST00000393287
Ensembl: ENST00000502250
Ensembl: ENST00000503767
Ensembl: ENST00000532032
MIM: 109150
MIM: 607047
neXtProt: NX_P54252
Antibodypedia: P54252 (may not find the protein thus also not any antibody)
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