ZFIN ID: ZDB-GENE-031112-8
Gene Name: adaptor related protein complex 3 subunit beta 1a
Gene Symbol: ap3b1a    Nomenclature History

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Previous Names: ap3b1, cb964 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 21 Mapping Details/Browsers
Description: Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to localize to AP-3 adaptor complex and clathrin adaptor complex. Is expressed in several structures, including axial vasculature; intermediate cell mass of mesoderm; optic vesicle; ventral mesoderm; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1).
Genome Resources: Alliance (1),  Gene:563316 (1),  Ensembl(GRCz11):ENSDARG00000100082 (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa40900 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa40901 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH ap3b1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 2 Alliance Hermansky-Pudlak syndrome 2 608233
    DISEASE ASSOCIATED WITH ap3b1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process intracellular protein transport (more)
    Cellular Component AP-3 adaptor complex (more)
    GO Terms (all 8)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ap3b1a No data available
    MARKER RELATIONSHIPS
    ap3b1a Encodes: [EST] cb964 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_021469001 (1)
    Genomic GenBank:CABZ01052424 (1)
    Polypeptide UniProtKB:A9JRG4 (1) 948 aa
    Sequence Information (all 20)
    ORTHOLOGY for ap3b1a ( Chr: 21 )
    CITATIONS (15)