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ATN1 atrophin 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu25731 NM_001007026 Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu25731 NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu25731C NM_001007026 Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. Customized vector On-demand TBD TBD
OHu25731C NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. Customized vector On-demand TBD TBD

*Business Day

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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?

Interactant

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