Identity
HGNC
LOCATION
6p22.3
LOCUSID
ALIAS
ATX1,D6S504E,SCA1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6310
MIM: 601556
HGNC: 10548
Ensembl: ENSG00000124788
Variants:
dbSNP: 6310
ClinVar: 6310
TCGA: ENSG00000124788
COSMIC: ATXN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000124788 | ENST00000244769 | P54253 |
| ENSG00000124788 | ENST00000436367 | P54253 |
| ENSG00000124788 | ENST00000642969 | A0A2R8YCF3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36208132 | 2023 | Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1. | 0 |
| 36629882 | 2023 | Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. | 0 |
| 36208132 | 2023 | Governing dynamics and preferential binding of the AXH domain influence the aggregation pathway of Ataxin-1. | 0 |
| 36629882 | 2023 | Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. | 0 |
| 34635619 | 2022 | Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1. | 1 |
| 35903875 | 2022 | Epigenetic control of ataxin-1 in multiple sclerosis. | 1 |
| 35906672 | 2022 | Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1. | 3 |
| 34635619 | 2022 | Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1. | 1 |
| 35903875 | 2022 | Epigenetic control of ataxin-1 in multiple sclerosis. | 1 |
| 35906672 | 2022 | Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1. | 3 |
| 33159825 | 2021 | Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. | 4 |
| 33772540 | 2021 | Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase. | 2 |
| 34302818 | 2021 | A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1. | 5 |
| 33159825 | 2021 | Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. | 4 |
| 33772540 | 2021 | Spinocerebellar 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/atxn1-(ataxin-1)
