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    Atxn7 ataxin 7 [ Mus musculus (house mouse) ]

    Gene ID: 246103, updated on 3-Dec-2024

    Summary

    Official Symbol
    Atxn7provided by MGI
    Official Full Name
    ataxin 7provided by MGI
    Primary source
    MGI:MGI:2179277
    See related
    Ensembl:ENSMUSG00000021738 AllianceGenome:MGI:2179277
    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
    Sca7; ataxin-7; A430107N12Rik
    Summary
    Enables chromatin binding activity. Acts upstream of or within negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system; and retina. Used to study spinocerebellar ataxia type 7. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 7. Orthologous to human ATXN7 (ataxin 7). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 4.5), bladder adult (RPKM 4.4) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Atxn7 in Genome Data Viewer
    Location:
    14 A1; 14 7.08 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (8358358..8508324, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (13961283..14107316)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily T member 6 Neighboring gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 Neighboring gene STARR-seq mESC enhancer starr_35986 Neighboring gene predicted gene, 53821 Neighboring gene STARR-seq mESC enhancer starr_35982 Neighboring gene STARR-seq mESC enhancer starr_35981 Neighboring gene THO complex 7 Neighboring gene predicted gene 11100 Neighboring gene STARR-seq mESC enhancer starr_35980 Neighboring gene STARR-seq mESC enhancer starr_35979 Neighboring gene STARR-seq mESC enhancer starr_35978 Neighboring gene cadherin related family member 18 Neighboring gene zinc finger, AN1-type domain 5 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SAGA complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microtubule cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription factor TFTC complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ataxin-7
    Names
    spinocerebellar ataxia 7 homolog
    spinocerebellar ataxia type 7 protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001427056.1NP_001413985.1  ataxin-7 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC116479
      UniProtKB/TrEMBL
      A0A286YDW9, B2RQB7
    2. NM_001427057.1NP_001413986.1  ataxin-7 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC116479
    3. NM_001427058.1NP_001413987.1  ataxin-7 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC116479
    4. NM_139227.5NP_631973.3  ataxin-7 isoform 2

      See identical proteins and their annotated locations for NP_631973.3

      Status: VALIDATED

      Source sequence(s)
      AC116479
      Consensus CDS
      CCDS26823.1
      UniProtKB/Swiss-Prot
      E9QPX9, Q8BL17, Q8R4I1
      UniProtKB/TrEMBL
      B2RQB7
      Related
      ENSMUSP00000022257.3, ENSMUST00000022257.4
      Conserved Domains (1) summary
      pfam08313
      Location:319378
      SCA7; SCA7, zinc-binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      8358358..8508324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518018.5XP_006518081.1  ataxin-7 isoform X2

      UniProtKB/TrEMBL
      B2RQB7
      Conserved Domains (3) summary
      PHA03247
      Location:359593
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:296355
      SCA7; zinc-binding domain
      pfam15912
      Location:367445
      VIR_N; Virilizer, N-terminal
    2. XM_036158598.1XP_036014491.1  ataxin-7 isoform X3

      UniProtKB/TrEMBL
      B2RQB7
      Conserved Domains (2) summary
      PHA03247
      Location:276350
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:202261
      SCA7; zinc-binding domain
    3. XM_006518017.4XP_006518080.1  ataxin-7 isoform X1

      See identical proteins and their annotated locations for XP_006518080.1

      UniProtKB/TrEMBL
      A0A286YDW9, B2RQB7
      Related
      ENSMUSP00000153613.2, ENSMUST00000223714.2
      Conserved Domains (3) summary
      PHA03247
      Location:382616
      PHA03247; large tegument protein UL36; Provisional
      pfam08313
      Location:319378
      SCA7; zinc-binding domain
      pfam15912
      Location:390468
      VIR_N; Virilizer, N-terminal

    RNA

    1. XR_004938401.1 RNA Sequence