ZFIN ID: ZDB-GENE-040426-1068
Gene Name: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
Gene Symbol: hps4    Nomenclature History

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Previous Name: zgc:56538 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 8 Mapping Details/Browsers
Description: Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 4; and schizophrenia. Orthologous to human HPS4 (HPS4 biogenesis of lysosomal organelles complex 3 subunit 2).
Genome Resources: Alliance (1),  Gene:393296 (1),  Ensembl(GRCz11):ENSDARG00000013795 (2)
GENE EXPRESSION
All Expression Data: 3 figures from 3 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [MGC:56538]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa7150 Point Mutation Unknown Premature Stop ENU
sa7151 Point Mutation Unknown Splice Site ENU
sa41267 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-hps4 N/A 2
    MO2-hps4 N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH hps4 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 4 Alliance Hermansky-Pudlak syndrome 4 614073
    DISEASE ASSOCIATED WITH hps4 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process melanosome assembly (more)
    Cellular Component BLOC-3 complex (more)
    Molecular Function CONTRIBUTES_TO   guanyl-nucleotide exchange factor activity (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA hps4-201 (1)    Ensembl 2372
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM hps4 No data available
    MARKER RELATIONSHIPS
    hps4 Contained in: [BAC] CH211-170D8 (1)
    hps4 Encodes: [cDNA] MGC:56538 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_200326 (1) 2384 nt
    Genomic GenBank:CT027598 (1) 101489 nt
    Select Tool
    Polypeptide UniProtKB:A9C463 (1) 647 aa
    Sequence Information (all 9)
    ORTHOLOGY for hps4 ( Chr: 8 )
    CITATIONS (22)