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ATXN1 ataxin 1 [ Homo sapiens (human) ]

Gene ID: 6310, updated on 12-Aug-2018

Summary

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). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
Expression
Ubiquitous expression in endometrium (RPKM 6.8), brain (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See ATXN1 in Genome Data Viewer
Location:
6p22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 ataxin 1 repeat instability region Neighboring gene guanosine monophosphate reductase Neighboring gene HNF1 motif-containing MPRA enhancer 207 Neighboring gene uncharacterized LOC101928433 Neighboring gene uncharacterized LOC107986573 Neighboring gene uncharacterized LOC105374951

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

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 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 
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
learning ISS
Inferred from Sequence or Structural Similarity
more info
 
memory ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nuclear export IDA
Inferred from Direct Assay
more info
PubMed 
social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
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 

General protein information

Preferred Names
ataxin-1
Names
alternative ataxin1
spinocerebellar ataxia type 1 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_011571.1 RefSeqGene

    Range
    5001..467379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_863

mRNA and Protein(s)

  1. NM_000332.3NP_000323.2  ataxin-1 ATXN1

    See identical proteins and their annotated locations for NP_000323.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes multiple distinct proteins due to the use of alternative translation initiation codons. The longer 815 aa protein (ATXN1, PMID:23705062) represents the canonical protein, while a shorter protein (Alt-ATXN1, PMID:23705062) that uses a different reading frame has also been described. This RefSeq represents the longer protein, ATXN1. Variant 2 also encodes ATXN1.
    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 ATXN1

    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. This variant encodes the same protein represented by the longer protein encoded by variant 1, ATXN1.
    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
  3. NM_001357857.1NP_001344786.1  ataxin-1 Alt-ATXN1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes multiple distinct proteins due to the use of alternative translation initiation codons. The longer, 815 aa protein represents the canonical protein, while a shorter 185 aa protein(Alt-ATXN1, PMID:23760502) that uses a different reading frame has also been described. Alt-ATXN1 does not share structural similarity to the ATXN1, but has been shown to interact with the ATXN1. This RefSeq represents the shorter protein, Alt-ATXN1.
    Source sequence(s)
    AL009031, BC011026, X79204
    Consensus CDS
    CCDS87367.1
    Related
    ENSP00000493530.1, ENST00000642969.1

RNA

  1. NR_152111.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137003, BC011026, BC047894, BQ016046
  2. NR_152112.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137003, BC011026, BC047894, BQ016046
  3. NR_152113.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137003, BC047894, BQ016046, DB291268
  4. NR_152114.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL137003, BC047894, BQ016046, DB291268, X79204

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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