Atrophin 1

ATN1
Identifiers
AliasesATN1, B37, D12S755E, DRPLA, HRS, NOD, atrophin 1, CHEDDA
External IDsOMIM: 607462; MGI: 104725; HomoloGene: 1461; GeneCards: ATN1; OMA:ATN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

1822

13498

Ensembl

ENSG00000111676

ENSMUSG00000004263

UniProt

P54259

O35126

RefSeq (mRNA)

NM_001940
NM_001007026

NM_007881

RefSeq (protein)

NP_001007027
NP_001931

NP_031907

Location (UCSC)Chr 12: 6.92 – 6.94 MbChr 6: 124.72 – 124.73 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. The function of Atrophin-1 has not yet been determined. There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor. Atrophin-1 can be found in the nuclear and cytoplasmic compartments of neurons. It is expressed in nervous tissue.