Identity
HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
B37,CHEDDA,D12S755E,DRPLA,HRS,NOD
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: 1822
MIM: 607462
HGNC: 3033
Ensembl: ENSG00000111676
Variants:
dbSNP: 1822
ClinVar: 1822
TCGA: ENSG00000111676
COSMIC: ATN1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111676 | ENST00000356654 | P54259 |
| ENSG00000111676 | ENST00000396684 | P54259 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36809552 | 2023 | Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy. | 2 |
| 36809552 | 2023 | Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy. | 2 |
| 34212383 | 2021 | CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. | 2 |
| 34212383 | 2021 | CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. | 2 |
| 30827498 | 2019 | De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. | 10 |
| 30827498 | 2019 | De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. | 10 |
| 27577205 | 2016 | [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy]. | 0 |
| 27577205 | 2016 | [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy]. | 0 |
| 24981774 | 2014 | Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. | 17 |
| 25398822 | 2014 | Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. | 0 |
| 25519973 | 2014 | Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance. | 33 |
| 24981774 | 2014 | Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. | 17 |
| 25398822 | 2014 | Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population. | 0 |
| 25519973 | 2014 | Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance. | 33 |
| 23263592 | 2013 | Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs. | 2 |
Citation
Dessen P
ATN1 (atrophin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60605/atn1-(atrophin-1)
