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    Atxn1 ataxin 1 [ Mus musculus (house mouse) ]

    Gene ID: 20238, updated on 22-Apr-2017
    Official Symbol
    Atxn1provided by MGI
    Official Full Name
    ataxin 1provided by MGI
    Primary source
    MGI:MGI:104783
    See related
    Ensembl:ENSMUSG00000046876
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Atx1; Sca1; C85907; Gm10786; 2900016G23Rik
    Orthologs
    Location:
    13 A5; 13 21.98 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 13 NC_000079.6 (45549755..45965034, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (45650262..46060345, complement)

    Chromosome 13 - NC_000079.6Genomic Context describing neighboring genes Neighboring gene myosin regulatory light chain interacting protein Neighboring gene predicted gene, 34582 Neighboring gene guanosine monophosphate reductase Neighboring gene RIKEN cDNA 5033430I15 gene Neighboring gene predicted gene, 34991

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • mRNA processing, organism-specific biosystem (from WikiPathways)
      mRNA processing, organism-specific biosystemAdapted from Reactome, see: [http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=REACT_1675.1 REACT 1675.1] This process describes the conversion of precursor messenger RNA into mature messenge...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    poly(G) binding ISO
    Inferred from Sequence Orthology
    more info
     
    poly(U) RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein self-association ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    excitatory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lung alveolus development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of insulin-like growth factor receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear export ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of glial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with nuclear RNA export factor complex ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear inclusion body ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
     
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ataxin-1
    Names
    spinocerebellar ataxia 1 homolog

    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.

    mRNA and Protein(s)

    1. NM_001199304.1NP_001186233.1  ataxin-1 isoform b

      See identical proteins and their annotated locations for NP_001186233.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC154817, AK048268, AK165114, BE993799
      Consensus CDS
      CCDS26483.1
      UniProtKB/Swiss-Prot
      P54254
      Related
      ENSMUSP00000129890.2, ENSMUST00000167708.2
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    2. NM_001199305.1NP_001186234.1  ataxin-1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC154817, AK048268, AK165114, BE993799
      Consensus CDS
      CCDS56877.1
      UniProtKB/Swiss-Prot
      P54254
      UniProtKB/TrEMBL
      J3QPR1
      Related
      ENSMUSP00000137439.1, ENSMUST00000180110.7
      Conserved Domains (2) summary
      smart00536
      Location:549672
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    3. NM_009124.6NP_033150.2  ataxin-1 isoform b

      See identical proteins and their annotated locations for NP_033150.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).
      Source sequence(s)
      AC154817, AK048268, AK165114, BE993799
      Consensus CDS
      CCDS26483.1
      UniProtKB/Swiss-Prot
      P54254
      Related
      ENSMUSP00000089217.3, ENSMUST00000091628.9
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000079.6 Reference GRCm38.p4 C57BL/6J

      Range
      45549755..45965034 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244390.2XP_011242692.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242692.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    2. XM_011244386.2XP_011242688.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242688.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    3. XM_011244385.2XP_011242687.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242687.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    4. XM_011244383.2XP_011242685.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242685.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    5. XM_011244381.2XP_011242683.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242683.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    6. XM_011244389.2XP_011242691.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242691.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    7. XM_011244387.2XP_011242689.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242689.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    8. XM_011244388.1XP_011242690.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242690.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    9. XM_011244392.1XP_011242694.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242694.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    10. XM_011244391.2XP_011242693.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242693.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    11. XM_017315462.1XP_017170951.1  ataxin-1 isoform X1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    12. XM_011244393.1XP_011242695.1  ataxin-1 isoform X1

      See identical proteins and their annotated locations for XP_011242695.1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
    13. XM_017315463.1XP_017170952.1  ataxin-1 isoform X1

      UniProtKB/Swiss-Prot
      P54254
      Conserved Domains (2) summary
      smart00536
      Location:549664
      AXH; domain in Ataxins and HMG containing proteins
      pfam12547
      Location:391421
      ATXN-1_C; Capicua transcriptional repressor modulator
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