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    ATXN1 ataxin 1 [ Homo sapiens (human) ]

    Gene ID: 6310, updated on 20-Apr-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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