ATXN3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3, Ataxin 3
External IDsOMIM: 607047 MGI: 1099442 HomoloGene: 3658 GeneCards: ATXN3
Orthologs
SpeciesHumanMouse
Entrez

4287

110616

Ensembl

ENSG00000066427

ENSMUSG00000021189

UniProt

P54252
Q4VBR4

Q9CVD2

RefSeq (mRNA)

NM_001167914
NM_029705

RefSeq (protein)

NP_001161386
NP_083981

Location (UCSC)Chr 14: 92.04 – 92.11 MbChr 12: 101.92 – 101.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.[5][6]

Clinical significance

Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG 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. This disorder is thus a trinucleotide repeat disorder type I known as a polyglutamine (PolyQ) 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.[6]

Interactions

Ataxin 3 has been shown to interact with:

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000066427 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021189 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S (Jul 1993). "The gene for Machado-Joseph disease maps to human chromosome 14q". Nature Genetics. 4 (3): 300–4. doi:10.1038/ng0793-300. PMID 8358439. S2CID 27424416.
  6. 1 2 "Entrez Gene: ATXN3 ataxin 3".
  7. 1 2 Wang G, Sawai N, Kotliarova S, Kanazawa I, Nukina N (Jul 2000). "Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B". Human Molecular Genetics. 9 (12): 1795–803. doi:10.1093/hmg/9.12.1795. PMID 10915768.
  8. Doss-Pepe EW, Stenroos ES, Johnson WG, Madura K (Sep 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". Molecular and Cellular Biology. 23 (18): 6469–83. doi:10.1128/MCB.23.18.6469-6483.2003. PMC 193705. PMID 12944474.
  9. Wang Q, Li L, Ye Y (Mar 2008). "Inhibition of p97-dependent protein degradation by Eeyarestatin I". The Journal of Biological Chemistry. 283 (12): 7445–54. doi:10.1074/jbc.M708347200. PMC 2276333. PMID 18199748.

Further reading

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