ATN1

Atrophin 1
Identifiers
Symbols	ATN1 ; B37; D12S755E; DRPLA; HRS; NOD
External IDs	OMIM: 607462 MGI: 104725 HomoloGene: 1461 GeneCards: ATN1 Gene
Gene ontology Molecular function • RNA polymerase II transcription coactivator activity • transcription corepressor activity • protein binding • protein domain specific binding • toxin receptor binding Cellular component • nucleus • nucleoplasm • cytoplasm • nuclear matrix • cell junction • perinuclear region of cytoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • transcription, DNA-templated • central nervous system development • toxin metabolic process • cell migration • maintenance of cell polarity • positive regulation of transcription from RNA polymerase II promoter • neuron apoptotic process Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE ATN1 40489 at tn.png
File:PBB GE ATN1 208871 at tn.png
File:PBB GE ATN1 211076 x at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1822	13498
Ensembl	ENSG00000111676	ENSMUSG00000004263
UniProt	P54259	O35126
RefSeq (mRNA)	NM_001007026	NM_007881
RefSeq (protein)	NP_001007027	NP_031907
Location (UCSC)	Chr 12: 6.92 – 6.94 Mb	Chr 6: 124.74 – 124.76 Mb
PubMed search	[1]	[2]

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. It is expressed in nervous tissue.

Function

Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this 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. Alternative splicing results in two transcripts variants that encode the same protein.

Clinical significance

Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

Interactions

ATN1 has been shown to interact with:

• BAIAP2,
• MAGI1,
• MAGI2,
• RERE, and
• WWP2.

External links

• GeneReviews/NCBI/NIH/UW entry on DRPLA
• atrophin-1 at the US National Library of Medicine Medical Subject Headings (MeSH)