ATXN1 (ataxin 1)

2016-10-01  

Identity

HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
ATX1,D6S504E,SCA1
FUSION GENES

Other Information

Locus ID:

NCBI: 6310
MIM: 601556
HGNC: 10548
Ensembl: ENSG00000124788

Variants:

dbSNP: 6310
ClinVar: 6310
TCGA: ENSG00000124788
COSMIC: ATXN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000124788ENST00000244769P54253
ENSG00000124788ENST00000436367P54253
ENSG00000124788ENST00000642969A0A2R8YCF3

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
362081322023Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1.0
366298822023Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.0
362081322023Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1.0
366298822023Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.0
346356192022Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.1
359038752022Epigenetic control of ataxin-1 in multiple sclerosis.1
359066722022Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.3
346356192022Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.1
359038752022Epigenetic control of ataxin-1 in multiple sclerosis.1
359066722022Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1.3
331598252021Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.4
337725402021Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.2
343028182021A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1.5
331598252021Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.4
337725402021Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase.2

Citation

Dessen P

ATXN1 (ataxin 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56153/gene-fusions/js/gene-fusions-explorer/