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ATN1 atrophin 1 [ Homo sapiens (human) ]

Gene ID: 1822, updated on 25-Apr-2020

Summary

Official Symbol
ATN1provided by HGNC
Official Full Name
atrophin 1provided by HGNC
Primary source
HGNC:HGNC:3033
See related
Ensembl:ENSG00000111676 MIM:607462
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B37; HRS; NOD; DRPLA; CHEDDA; D12S755E
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 7-35 copies to 49-93 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, Jul 2016]
Expression
Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues See more
Orthologs

Genomic context

See ATN1 in Genome Data Viewer
Location:
12p13.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6924459..6942321)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7033626..7051484)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 23 Neighboring gene enolase 2 Neighboring gene atrophin 1 repeat instability region Neighboring gene chromosome 12 open reading frame 57 Neighboring gene RNA, U7 small nuclear 1 Neighboring gene protein tyrosine phosphatase non-receptor type 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
atrophin-1
Names
dentatorubral-pallidoluysian atrophy protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008047.1 RefSeqGene

    Range
    4997..22859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007026.2NP_001007027.1  atrophin-1

    See identical proteins and their annotated locations for NP_001007027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC051795, BQ448220, BQ880124, BQ897715, U47924
    Consensus CDS
    CCDS31734.1
    UniProtKB/Swiss-Prot
    P54259
    UniProtKB/TrEMBL
    Q86V38
    Related
    ENSP00000349076.3, ENST00000356654.8
    Conserved Domains (1) summary
    pfam03154
    Location:11189
    Atrophin-1; Atrophin-1 family
  2. NM_001940.4NP_001931.2  atrophin-1

    See identical proteins and their annotated locations for NP_001931.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AW411230, BE142829, BQ448220, BQ897715, BQ957462, D31840, U47924
    Consensus CDS
    CCDS31734.1
    UniProtKB/Swiss-Prot
    P54259
    Related
    ENSP00000379915.2, ENST00000396684.3
    Conserved Domains (1) summary
    pfam03154
    Location:11189
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6924459..6942321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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