ZFIN ID: ZDB-GENE-051113-152
Gene Name: HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Gene Symbol: hps1    Nomenclature History

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Previous Names: im:7143944, zgc:123240

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 13 Mapping Details/Browsers
Description: Is expressed in optic vesicle; pancreas; pancreatic bud; retina; and retinal pigmented epithelium. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1).
Genome Resources: Alliance (1),  Gene:563067 (1),  Ensembl(GRCz11):ENSDARG00000026170 (2)
GENE EXPRESSION
All Expression Data: 5 figures from 2 publications
Directly Submitted Expression Data: 4 figures (5 images) from Thisse et al., 2004 [IMAGE:7143944]
Wild-type Stages, Structures: Segmentation:20-25 somites (19.0h-22.0h) to Adult (90d-730d, breeding adult)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1853 Point Mutation Unknown Splice Site ENU
sa17216 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35570 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42277 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-hps1 N/A 1
    MO2-hps1 N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH hps1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Hermansky-Pudlak syndrome 1 Alliance Hermansky-Pudlak syndrome 1 203300
    DISEASE ASSOCIATED WITH hps1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process biological_process (more)
    GO Terms (all 1)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA hps1-201 (1)    Ensembl 4642
    hps1-203 (1)    Ensembl 310
    ncRNA hps1-002 (1)    Ensembl 827
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM hps1 No data available
    MARKER RELATIONSHIPS
    hps1 Contained in: [BAC] DKEYP-34H12 (1)
    hps1 Encodes: [EST] IMAGE:7143944 (1)
    [cDNA] MGC:123240 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001037688 (1) 2370 nt
    Genomic GenBank:BX294129 (1) 156627 nt
    Select Tool
    Polypeptide UniProtKB:F6PFK5 (1) 668 aa
    Sequence Information (all 11)
    ORTHOLOGY for hps1 ( Chr: 13 )
    CITATIONS (22)