Ataxin 3

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Ataxin 3
Protein ATXN3 PDB 1yzb.png
PDB rendering based on 1yzb.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATXN3 ; AT3; ATX3; JOS; MJD; MJD1; SCA3
External IDs OMIM607047 MGI1099442 HomoloGene3658 GeneCards: ATXN3 Gene
EC number 3.4.19.12
RNA expression pattern
PBB GE ATXN3 205415 s at tn.png
PBB GE ATXN3 205416 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4287 110616
Ensembl ENSG00000259634 ENSMUSG00000021189
UniProt P54252 Q9CVD2
RefSeq (mRNA) NM_001024631 NM_001167914
RefSeq (protein) NP_001121168 NP_001161386
Location (UCSC) Chr 14:
92.52 – 92.53 Mb
Chr 12:
101.92 – 101.96 Mb
PubMed search [1] [2]

Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.[1][2]

Clinical significance[edit]

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[2]

Interactions[edit]

Ataxin 3 has been shown to interact with:

References[edit]

  1. ^ Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. (September 1993). "The gene for Machado-Joseph disease maps to human chromosome 14q". Nat Genet 4 (3): 300–4. doi:10.1038/ng0793-300. PMID 8358439. 
  2. ^ a b "Entrez Gene: ATXN3 ataxin 3". 
  3. ^ a b Wang G, Sawai N, Kotliarova S, Kanazawa I, Nukina N (July 2000). "Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B". Hum. Mol. Genet. 9 (12): 1795–803. doi:10.1093/hmg/9.12.1795. PMID 10915768. 
  4. ^ Doss-Pepe EW, Stenroos ES, Johnson WG, Madura K (September 2003). "Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis". Mol. Cell. Biol. 23 (18): 6469–83. doi:10.1128/MCB.23.18.6469-6483.2003. PMC 193705. PMID 12944474. 
  5. ^ Wang Q, Li L, Ye Y (March 2008). "Inhibition of p97-dependent protein degradation by Eeyarestatin I". J. Biol. Chem. 283 (12): 7445–54. doi:10.1074/jbc.M708347200. PMC 2276333. PMID 18199748. 

Further reading[edit]

External links[edit]