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FLASH GENE
Symbol HPS4 contributors: mct/npt - updated : 23-06-2013
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
    DNA
    TYPE functioning gene
    STRUCTURE 32.38 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KIAA1941 22q11.23 KIAA1941 protein LOC255349 22q11.23 hypothetical LOC255349 KIAA1671  KIAA1671 protein CRYBB3 22q11.23 crystallin, beta B3 CRYBB2 22q11.23 crystallin, beta B2 LOC91353 22q11.23 similar to omega protein DKFZp434O0213 22q11.23 hypothetical protein DKFZp434O0213 CRYBB2P1 22q11.23 crystallin, beta B2 pseudogene 1 ADRBK2 22q11.22 adrenergic, beta, receptor kinase 2 YESP 22q11-q12 v-yes-1 Yamaguchi sarcoma viral oncogene homolog pseudogene MYO18B 22q11.2-q12.1 myosin XVIIIB SEZ6L 22q11.21-q12.2 seizure related 6 homolog (mouse)-like FLJ38343 22q12.1 hypothetical protein FLJ38343 LOC391324 22 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC57168 22q12.1 similar to aspartate beta hydroxylase (ASPH) HPS4 22q11.2-q12.2 Hermansky-Pudlak syndrome 4 TFIP11 22q12.1 tuftelin interacting protein 11 TPST2 22q12.1 tyrosylprotein sulfotransferase 2 HMG1L10 22q12.1 high-mobility group (nonhistone chromosomal) protein 1-like 10 CRYBB1 22q11.22 crystallin, beta B1 CRYBA4 22q12.1 crystallin, beta A4 LOC391325 22 similar to HESB like domain containing 1 LOC388888 22 LOC388888 LOC388889 22 LOC388889 MN1 22q12.1 meningioma (disrupted in balanced translocation) 1 PITPNB 22q12.1 phosphotidylinositol transfer protein, beta
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 splicing 4539 76.9 708 - Anderson (2003)
    12 splicing 4069 76.4 703 - Anderson (2003)
    EXPRESSION
    Type
    constitutive of
       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     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)
  • 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
  • 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