ZFIN ID: ZDB-GENE-070410-80
Gene Name: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene Symbol: hps5    Nomenclature History

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

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 25 Mapping Details/Browsers
Description: Involved in developmental pigmentation; notochord development; and regulation of compound eye pigmentation. Predicted to localize to BLOC-2 complex. Is expressed in cranial ganglion; epidermis; neurons; notochord; and spinal cord. Used to study Hermansky-Pudlak syndrome. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 5. Orthologous to human HPS5 (HPS5 biogenesis of lysosomal organelles complex 2 subunit 2).
Genome Resources: Alliance (1),  Gene:100037388 (1),  Ensembl(GRCz11):ENSDARG00000071062 (2)
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)
 
High Throughput Expression: Expression Atlas (1)
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)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-hps5 N/A 1
    MO2-hps5 N/A 1
    MO3-hps5 N/A 1
    DISEASE ASSOCIATED WITH hps5 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 5 Alliance 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 No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA hps5-201 (1)    Ensembl 4125
    ncRNA hps5-002 (1)    Ensembl 486
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM hps5 No data available
    MARKER RELATIONSHIPS
    hps5 Contained in: [BAC] CH211-112D9 (1)
    hps5 Encodes: [EST] IMAGE:7159524 (1)
    [cDNA] MGC:162420 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001089539 (1) 4185 nt
    Genomic GenBank:CU184832 (1) 187294 nt
    Select Tool
    Polypeptide UniProtKB:Q0VA83 (1) 1174 aa
    Sequence Information (all 17)
    ORTHOLOGY for hps5 ( Chr: 25 )
    CITATIONS (26)