ZFIN ID: ZDB-GENE-050208-569
Gene Name: biogenesis of lysosomal organelles complex-1, subunit 1
Gene Symbol: bloc1s1
Sequence Ontology ID : SO:0000704

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Previous Name: si:dkey-102c8.4

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(Including Attributions)
Location: Chr: 22 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in pigment granule organization, surfactant homeostasis, and swim bladder development; predicted to localize to the BLOC-1 complex; orthologous to human BLOC1S1 (biogenesis of lysosomal  ...
GENE EXPRESSION
All Expression Data: 4 figures from 3 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2005 [eu544]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ihb815 Small Deletion Donor Splice Site of Exon 2 Frameshift CRISPR
ihb816 Small Deletion Unknown Frameshift CRISPR
sa43772 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents:
    PHENOTYPE
    Data: 6 figures from Chen et al., 2018
    Observed in:
    DISEASE ASSOCIATED WITH bloc1s1 HUMAN ORTHOLOG No data available
    DISEASE ASSOCIATED WITH bloc1s1 VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Hermansky-Pudlak syndrome bloc1s1ihb815/ihb815 standard conditions Chen et al., 2018
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pigment granule organization (more)
    Cellular Component BLOC-1 complex (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR009395 (1)
  • Pfam:PF06320 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA bloc1s1-001 (1) 563
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM bloc1s1 No data available
    MARKER RELATIONSHIPS
    bloc1s1Contained in: [BAC] DKEY-102C8 (1) (order this)
    bloc1s1Encodes: [EST] eu544 (1)
    [cDNA] MGC:162811 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001044350 (1)
    Genomic GenBank:BX324213 (1) 94824bp
    Select Tool
    Polypeptide UniProtKB:Q1LXG2 (1) 125aa
    Sequence Clusters UniGene:81211 (1)
    Sequence Information (all 12)
    OTHER bloc1s1 GENE PAGES
  • Alliance (1)
  • Gene:556597 (1)
  • VEGA:OTTDARG00000009172 (1)
  • Ensembl(GRCz11):ENSDARG00000014171 (2)
  • ORTHOLOGY for bloc1s1 (Chr: 22)
    CITATIONS (24)