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FLASH GENE
Symbol HPS4 contributors: mct/npt - updated : 23-10-2019
HGNC name Hermansky-Pudlak syndrome 4
HGNC id 15844
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Hps4
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,lysosome
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • may be functioning in the pathway of organelle biogenesis
  • might function as a RAB9A effector in the biogenesis of lysosome-related organelles (Kloer 2010)
  • can promote specific membrane recruitment of RAB32/RAB38, suggesting a novel Rab GEF family with a specific function in the biogenesis of lysosome-related organelles
  • encodes a subunit protein of the biogenesis of lysosome-related organelles complex (BLOC)-3, which is involved in late endosomal trafficking
  • potential involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia
  • HPS4 regulates recycling of VAMP7 from melanosomes, most likely by recruiting RAB38 and consequently ANKRD27 to initiate and/or complete tubule formation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC3, BLOC4, and BLOC5
  • components of a cytosolic complex involved in the biogenesis of lysosomal-related organelles by a mechanism distinct from that operated by AP-3 complex
  • HPS1/HPS4 heterodimer (Nazarian 2008)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mediating interaction between BLOC1S3 and and the switch I and II regions of RAB9A (Kloer 2010)
  • specific and strong interaction of HPS1, HPS4 with the GTP-bound form of the endosomal GTPase, RAB9A, RAB9B
  • HPS1 and HPS4 encode the HPS1 and HPS4 proteins, which assemble to form a complex known as Biogenesis of Lysosome-related Organelle Complex 3 (BLOC1S3)
  • VAMP7 mediates fusion of BLOC1S6-dependent transport carriers with melanosomes, and illuminate SNARE recycling from melanosomes as a critical HPS4-dependent step
  • HPS4 is required for activation of RAB32/RAB38 GTPases in melanogenesis, but its RAB9 activity is dispensable for melanogenesis
    • cell & other
    REGULATION
    Other regulated by RAB9A (regulates its function in lysosome-related organelles biogenesis from an endosomal compartment) (Kloer 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS