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FLASH GENE
Symbol BLOC1S1 contributors: shn/npt - updated : 16-09-2015
HGNC name biogenesis of lysosome-related organelles complex-1, subunit 1
HGNC id 4200
Location 12q13.2      Physical location : 56.109.819 - 56.113.487
Synonym name
  • BLOC subunit 1
  • GCN5 general control of amino-acid synthesis 5-like 1 (yeast)
  • biogenesis of lysosome-related organelles complex-1 subunit 1
  • Synonym symbol(s) RT14, BLOS1, MICoA, GCN5L1, FLJ39337, FLJ97089, MGC87455, BLOC1 SUBUNIT 1, BLOC-1
    DNA
    TYPE functioning gene
    STRUCTURE 3.67 kb     4 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D12S1724 - D12S1707 - BLOC1S1 - D12S1632 - D12S1644 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 0.59 13 125 - Starcevic et al, 2004
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil forming protein
  • an acetyltransferase domain
  • a bromodomain
  • HOMOLOGY
    interspecies homolog to to yeast GCN5 general control of amino-acid synthesis 2
    ortholog to Bloc1s1, Mus musculus
    ortholog to BLOC1S1, Pan troglodytes
    ortholog to Bloc1s1, Rattus norvegicus
    Homologene
    FAMILY
  • dysbindin family
  • BLOC1S1 family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • having histone acetyltransferase activity
  • is implicated in lysosomal trafficking of membrane proteins 8)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BLOC1S1 is a component of the BLOC1 multisubunit protein complex
  • distinct roles of AP1B1 and AP3B1 in OCA2 transport to melanosomes, indicating that BLOC1S1 can cooperate with either adaptor during cargo sorting to lysosome-related organelles (LROs)
  • interacted with SNX2 (a retromer subunit) and TSG101 (an endosomal sorting complex required for transport subunit-I) to mediate EGFR lysosomal trafficking
  • VAMP7 and TYRP1 traffic to melanosomes in BLOC1S1–dependent membrane tubules
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Hermansky-Pudlak syndrome (down-regulation of either PI4K2A, BLOC1S1, or AP3B1 complex) (Salazar 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS