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FLASH GENE
Symbol BLOC1S1 contributors: shn/npt - updated : 16-09-2018
HGNC name biogenesis of lysosome-related organelles complex-1, subunit 1
HGNC id 4200
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
  • RAB22A forms a complex with BLOC1S1, BLOC1S2 and the kinesin-3 family motor KIF13A on endosomes
  • 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
  • BLOC1S1 coordinates the kinesin KIF13A-dependent pulling of endosomal tubules along microtubules to the ANXA2/actin-dependent stabilization and detachment of recycling tubules
  • 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