ZFIN ID: ZDB-GENE-070410-80
Gene Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene Symbol: hps5
Sequence Ontology ID : SO:0000704

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Previous Names: snow white (1), snw, zgc:162420 (1)

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(Including Attributions)
Location: Chr: 25 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in developmental pigmentation, notochord development, and regulation of compound eye pigmentation; used to study Hermansky-Pudlak syndrome; orthologous to human HPS5 (HPS5, biogenesis of  ...
GENE EXPRESSION
All Expression Data: 7 figures from 2 publications
Directly Submitted Expression Data: 6 figures (12 images) from Thisse et al., 2004 [IMAGE:7159524]
Wild-type Stages, Structures: Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
m454 Unknown Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24589 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37981 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    PHENOTYPE
    Data: 6 figures from 3 publications
    Observed in:
    DISEASE ASSOCIATED WITH hps5 HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 5 Hermansky-Pudlak syndrome 5 614074
    DISEASE ASSOCIATED WITH hps5 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Hermansky-Pudlak syndrome hps5m454/m454 control Daly et al., 2013
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process developmental pigmentation (more)
    Cellular Component BLOC-2 complex (more)
    Molecular Function protein binding (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR015943 (1)
  • InterPro:IPR035431 (1)
  • InterPro:IPR036322 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    ncRNA hps5-002 (1) 486
    hps5-003 (1) 2670
    mRNA hps5-201 (1) 4125
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM hps5 No data available
    MARKER RELATIONSHIPS
    hps5Contained in: [BAC] CH211-112D9 (1) (order this)
    hps5Encodes: [EST] IMAGE:7159524 (1) (order this)
    [cDNA] MGC:162420 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001089539 (1) 4185bp
    Genomic GenBank:CU184832 (1) 187294bp
    Select Tool
    Polypeptide UniProtKB:Q0VA83 (1) 1174aa
    Sequence Clusters UniGene:82547 (1)
    Sequence Information (all 18)
    OTHER hps5 GENE PAGES
  • Alliance (1)
  • Gene:100037388 (1)
  • VEGA:OTTDARG00000035886 (1)
  • Ensembl(GRCz11):ENSDARG00000071062 (2)
  • ORTHOLOGY for hps5 (Chr: 25)
    CITATIONS (24)