ZFIN ID: ZDB-GENE-050912-1
Gene Name: vacuolar protein sorting 13 homolog D
Gene Symbol: vps13d    Nomenclature History

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Predicted to be involved in mitochondrion organization; protein retention in Golgi apparatus; and protein targeting to vacuole. Predicted to localize to the extrinsic component of membrane. Human ortholog(s) of this gene implicated in autosomal recessive cerebellar ataxia. Orthologous to human VPS13D (vacuolar protein sorting 13 homolog D).
Genome Resources: Alliance (1),  Gene:567879 (1),  Ensembl(GRCz11):ENSDARG00000017986 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la011061Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la014355Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la022547Tg Transgenic Insertion Unknown Unknown DNA
    sa551 Point Mutation Unknown Splice Site ENU
    sa9084 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16971 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24314 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24315 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa31088 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37691 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37692 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43971 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45002 Point Mutation Unknown Unknown ENU
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH vps13d HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Spinocerebellar ataxia, autosomal recessive 4 607317
    DISEASE ASSOCIATED WITH vps13d VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process mitochondrion organization (more)
    Cellular Component extrinsic component of membrane (more)
    GO Terms (all 4)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR000772 Ricin B, lectin domain
    Homologous_superfamily IPR009060 UBA-like superfamily
    Domain IPR009543 Vacuolar protein sorting-associated protein 13, SHR-binding domain
    Domain IPR015940 Ubiquitin-associated domain
    Family IPR026847 Vacuolar protein sorting-associated protein 13
    Domain IPR026854 Vacuolar protein sorting-associated protein 13, N-terminal domain
    Domain IPR031642 VPS13, repeated coiled region
    Domain IPR031645 Vacuolar protein sorting-associated protein 13, C-terminal
    Domain IPR031646 Vacuolar protein sorting-associated protein 13, second N-terminal domain
    Domain IPR041969 Vacuolar protein sorting-associated protein 13D, UBA domain
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA vps13d-202 (1)    Ensembl 6531
    vps13d-203 (1)    Ensembl 6932
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM vps13d No data available
    MARKER RELATIONSHIPS
    vps13d Contained in: [BAC] CH211-145D10 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_001919953 (1)
    Genomic GenBank:CR548634 (1) 153164 bp
    Select Tool
    Polypeptide UniProtKB:E7F307 (1) 3956 aa
    Sequence Information (all 20)
    ORTHOLOGY for vps13d ( Chr: 23 )
    CITATIONS (19)