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ATN1 atrophin 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001007026 Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol ATN1
Entrez Gene ID 1822
Full Name atrophin 1
Synonyms B37, D12S755E, DRPLA, HRS, NOD
General protein information
Preferred Names
atrophin-1
Names
atrophin-1
dentatorubral-pallidoluysian atrophy protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p13.31

Summary Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) 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. [provided by RefSeq, Feb 2010].
Disorder

MIM: 607462

Dentatorubro-pallidoluysian atrophy, 125370 (3)

mRNA Protein Product Sequence Price Select
NM_001007026, 55750052 NP_001007027, 55750053 atrophin-1 ORF Sequence $1500.00
NM_001940, 55750040 NP_001931, 55750041 atrophin-1 ORF Sequence $1500.00
Homo sapiens (human)ATN1NP_001007027.1
Pan troglodytes (chimpanzee)ATN1NP_001029337.1
Macaca mulatta (Rhesus monkey)ATN1XP_001118307.2
Canis lupus familiaris (dog)ATN1XP_003640006.1
Bos taurus (cattle)ATN1NP_001192677.1
Mus musculus (house mouse)Atn1NP_031907.2
Rattus norvegicus (Norway rat)Atn1NP_058924.2
Rattus norvegicus (Norway rat)LOC100911672XP_003750706.1
Gallus gallus (chicken)ATN1XP_425518.4
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0006351transcription, DNA-templatedIEA
GO:0007417central nervous system developmentTAS
GO:0009404toxin metabolic processIEA
GO:0016477cell migrationIEA
GO:0030011maintenance of cell polarityIEA
GO:0051402neuron apoptotic processIDA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmTAS
GO:0016363nuclear matrixIDA
GO:0030054cell junctionIEA
GO:0048471perinuclear region of cytoplasmIEA
Function
IDNameEvidence
GO:0003714transcription corepressor activityIDA
GO:0005515protein bindingIPI
GO:0019904protein domain specific bindingIPI
GO:0050827toxin receptor bindingIEA
GeneCards ATN1
UniProt P54259, Q86V38
Vega OTTHUMG00000169015
MIM 607462
Ensembl ENSG00000111676
HGNC 3033
HPRD 06311

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ATN1 gene?

The ATN1 gene provides instructions for making a protein called atrophin 1. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain. Based on studies in other animals, researchers speculate that atrophin 1 may act as a transcriptional co-repressor. A transcriptional co-repressor is a protein that interacts with other DNA-binding proteins to suppress the activity of certain genes, although it cannot attach (bind) to DNA by itself.

One region of the ATN1 gene contains a particular DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the number of CAG repeats in the ATN1 gene ranges from 6 to 35.

Interactant

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