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ATXN1 ataxin 1 [ Homo sapiens (human) ]

Gene ID: 6310, updated on 10-Sep-2017
Official Symbol
ATXN1provided by HGNC
Official Full Name
ataxin 1provided by HGNC
Primary source
HGNC:HGNC:10548
See related
Ensembl:ENSG00000124788 MIM:601556; Vega:OTTHUMG00000014303
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
ATX1; SCA1; D6S504E
Summary
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
Orthologs
Location:
6p22.3
Exon count:
9
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (16299112..16761490, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (16299343..16761721, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1114, pseudogene Neighboring gene guanosine monophosphate reductase Neighboring gene uncharacterized LOC107986518 Neighboring gene uncharacterized LOC101928433 Neighboring gene uncharacterized LOC107986573 Neighboring gene uncharacterized LOC105374951

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spinocerebellar ataxia 1 Compare labs

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association study of a quantitative disordered gambling trait.
NHGRI GWA Catalog
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of ataxin 1 (ATXN1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
poly(G) binding IDA
Inferred from Direct Assay
more info
PubMed 
poly(U) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
RNA processing NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nuclear export IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
colocalizes_with nuclear RNA export factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear inclusion body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
ataxin-1
Names
alternative ataxin1
spinocerebellar ataxia type 1 protein

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_011571.1 RefSeqGene

    Range
    5001..467379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000332.3NP_000323.2  ataxin-1

    See identical proteins and their annotated locations for NP_000323.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL009031, BC011026, X79204
    Consensus CDS
    CCDS34342.1
    UniProtKB/Swiss-Prot
    P54253
    UniProtKB/TrEMBL
    Q96FF1
    Related
    ENSP00000244769.3, OTTHUMP00000016065, ENST00000244769.8, OTTHUMT00000039943
    Conserved Domains (2) summary
    smart00536
    Location:573688
    AXH; domain in Ataxins and HMG containing proteins
    pfam12547
    Location:415445
    ATXN-1_C; Capicua transcriptional repressor modulator
  2. NM_001128164.1NP_001121636.1  ataxin-1

    See identical proteins and their annotated locations for NP_001121636.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL009031, BC011026, BP365416, X79204
    Consensus CDS
    CCDS34342.1
    UniProtKB/Swiss-Prot
    P54253
    UniProtKB/TrEMBL
    Q96FF1
    Related
    ENSP00000416360.1, ENST00000436367.5
    Conserved Domains (2) summary
    smart00536
    Location:573688
    AXH; domain in Ataxins and HMG containing proteins
    pfam12547
    Location:415445
    ATXN-1_C; Capicua transcriptional repressor modulator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

    Range
    16299112..16761490 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    16301995..16764390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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