Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HPS4 contributors: mct/npt - updated : 23-10-2019
HGNC name Hermansky-Pudlak syndrome 4
HGNC id 15844
Corresponding disease
HPS4 Hermansky-Pudlak syndrome 4
Location 22q12.1      Physical location : 26.847.446 - 26.879.820
Synonym name
  • mouse 'light ear' protein homolog
  • light-ear protein homolog
  • Synonym symbol(s) KIAA1667, LE, bK1048E9, BLOC-3, BLOC3S2
    DNA
    TYPE functioning gene
    STRUCTURE 40.75 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 4539 76.9 708 - 2012 23084991
    12 splicing 4069 76.4 703 - 2012 23084991
    14 - 4118 - 655 - 2012 23084991
    12 - 4813 - 649 - 2012 23084991
    14 - 5055 - 708 - 2012 23084991
    15 - 5109 - 726 - 2012 23084991
    15 - 5194 - 708 - 2012 23084991
    14 - 4995 - 708 - 2012 23084991
    15 - 5120 - 726 - 2012 23084991
    14 - 4824 - 649 - 2012 23084991
    14 - 4129 - 655 - 2012 23084991
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
    Reproductivemale systemtestis   
     male systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialsensoryolfactory  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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
  • 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