ZFIN ID: ZDB-GENE-061110-115
Gene Name: HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
Gene Symbol: hps3    Nomenclature History

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Previous Name: zgc:152969

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 22 Mapping Details/Browsers
Description: Predicted to be involved in organelle organization. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 3. Orthologous to human HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1).
Genome Resources: Alliance (1),  Gene:777758 (1),  Ensembl(GRCz11):ENSDARG00000015749 (2)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la014265Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la014266Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la028459Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa6717 Point Mutation Unknown Premature Stop ENU
    sa10831 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43887 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-hps3 N/A 1
    MO2-hps3 N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH hps3 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 3 Alliance Hermansky-Pudlak syndrome 3 614072
    DISEASE ASSOCIATED WITH hps3 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process organelle organization (more)
    Cellular Component cytoplasm (more)
    Molecular Function protein binding (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA hps3-201 (1)    Ensembl 3313
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM hps3 No data available
    MARKER RELATIONSHIPS
    hps3 Contained in: [BAC] CH211-284E20 (1)
    hps3 Encodes: [cDNA] MGC:152969 (1), MGC:192484 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001077799 (1) 2039 nt
    Genomic GenBank:AL954145 (1) 160871 nt
    Select Tool
    Polypeptide UniProtKB:F1R654 (1) 1042 aa
    Sequence Information (all 19)
    ORTHOLOGY for hps3 ( Chr: 22 )
    CITATIONS (21)