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Ataxin 1 (ATXN1)

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ATX1; SCA1; AXH Domain; Spinocerebellar Ataxia 1; Olivopontocerebellar Ataxia 1; Autosomal Dominant,Ataxin 1

Ataxin 1 (ATXN1)
CCC A514
HGNC 10548
MGI 104783
PubMed 11081516
RGD 3624
UniProt P54253
Wiki Ataxin_1
The protein ataxin-1 is encoded by the ATXN1 gene, which is mutated to contain an expanded CAG trinucleotide repeat in spinocerebellar ataxia-1 (SCA1), an autosomal dominant form of olivopontocerebellar atrophy. Although there are forms of spinocerebellar ataxia that are indistinguishable clinically from SCA1, e.g., SCA2, the designation SCA1 is used for the form that maps to 6p.
Banfi et al. (1994) demonstrated that the ATXN1 gene encodes an 816-amino acid protein with a molecular mass of 87 kD. The (CAG)n repeat, coding for a polyglutamine tract, lies within the coding region, and the protein is transcribed from both the wildtype and the CAG-expanded ATXN1 allele.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA514Hu01 Recombinant Ataxin 1 (ATXN1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA514Hu01 Polyclonal Antibody to Ataxin 1 (ATXN1) WB; IHC; ICC; IP.
MAA514Hu22 Monoclonal Antibody to Ataxin 1 (ATXN1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Ataxin 1 (ATXN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 1 (ATXN1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA514Mu01 Recombinant Ataxin 1 (ATXN1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA514Mu01 Polyclonal Antibody to Ataxin 1 (ATXN1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Ataxin 1 (ATXN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 1 (ATXN1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 1 (ATXN1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 1 (ATXN1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 1 (ATXN1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 1 (ATXN1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 1 (ATXN1) ELISA Kit Customized Service Offer
  1. "Identification and characterization of the gene causing type 1 spinocerebellar ataxia."Nat. Genet. 7:513-519(1994) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1."Hum. Mol. Genet. 4:2411-2413(1995) [PubMed] [Europe PMC] [Abstract]
  5. "Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals."Nat. Genet. 10:94-98(1995) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of a self-association region within the SCA1 gene product, ataxin-1."Hum. Mol. Genet. 6:513-518(1997) [PubMed] [Europe PMC] [Abstract]
  7. "The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1."Nature 389:974-978(1997) [PubMed] [Europe PMC] [Abstract]
  8. "The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract."Hum. Mol. Genet. 10:25-30(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein."Hum. Mol. Genet. 9:2305-2312(2000) [PubMed] [Europe PMC] [Abstract]
  10. "Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death."Neuron 34:701-713(2002) [PubMed] [Europe PMC] [Abstract]
  11. "USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product."Mol. Cell. Neurosci. 20:298-306(2002) [PubMed] [Europe PMC] [Abstract]
  12. "Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice."Neuron 38:375-387(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1."EMBO J. 24:3339-3351(2005) [PubMed] [Europe PMC] [Abstract]
  14. "SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal."J. Biol. Chem. 280:21942-21948(2005) [PubMed] [Europe PMC] [Abstract]
  15. "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration."Cell 125:801-814(2006) [PubMed] [Europe PMC] [Abstract]
  16. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway."EMBO Rep. 12:428-435(2011) [PubMed] [Europe PMC] [Abstract]
  18. "Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels."Cell 160:1087-1098(2015) [PubMed] [Europe PMC] [Abstract]
  19. "The structure of the AXH domain of spinocerebellar ataxin-1."J. Biol. Chem. 279:3758-3765(2004) [PubMed] [Europe PMC] [Abstract]