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    atxn3 ataxin 3 [ Danio rerio (zebrafish) ]

    Gene ID: 394079, updated on 4-Jan-2025

    Summary

    Official Symbol
    atxn3provided by ZNC
    Official Full Name
    ataxin 3provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-983
    See related
    Ensembl:ENSDARG00000099274 AllianceGenome:ZFIN:ZDB-GENE-040426-983
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    Mjd; zgc:56323
    Summary
    Predicted to enable cysteine-type deubiquitinase activity. Acts upstream of or within photoreceptor cell development. Predicted to be active in nucleus. Is expressed in brain; eye; and retina. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to several human genes including ATXN3 (ataxin 3). [provided by Alliance of Genome Resources, Jan 2025]
    Orthologs
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    Genomic context

    See atxn3 in Genome Data Viewer
    Location:
    chromosome: 17
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 17 NC_007128.7 (53283999..53290383)
    105 previous assembly GRCz10 (GCF_000002035.5) 17 NC_007128.6 (53196868..53203252)

    Chromosome 17 - NC_007128.7Genomic Context describing neighboring genes Neighboring gene vasohibin 1 Neighboring gene gamma-aminobutyric acid receptor subunit rho-1 Neighboring gene serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10b Neighboring gene si:ch1073-416d2.4 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box helicase 24

    Genomic regions, transcripts, and products

    Expression

    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    General gene information

    Clone Names

    • MGC56323

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine-type deubiquitinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ataxin-3
    NP_001307461.1
    XP_021322802.1

    NCBI Reference Sequences (RefSeq)

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    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_001320532.1NP_001307461.1  ataxin-3

      Status: VALIDATED

      Source sequence(s)
      CK015945, FO704905
      UniProtKB/TrEMBL
      A0A0R4ITP2, A0A8M1P7P2, A0A8M6YTS8
      Related
      ENSDARP00000137828.2, ENSDART00000165368.2
      Conserved Domains (2) summary
      pfam02099
      Location:9163
      Josephin; Josephin
      pfam16619
      Location:272310
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007128.7 Reference GRCz11 Primary Assembly

      Range
      53283999..53290383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021467127.2XP_021322802.1  ataxin-3 isoform X1

      UniProtKB/TrEMBL
      A0A8M6YTS8, A0A8M9P030
      Conserved Domains (2) summary
      pfam02099
      Location:11162
      Josephin
      pfam16619
      Location:271309
      SUIM_assoc; Unstructured region C-term to UIM in Ataxin3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_201104.1: Suppressed sequence

      Description
      NM_201104.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.