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FLASH GENE
Symbol HPS1 contributors: mct/npt - updated : 17-01-2017
HGNC name Hermansky-Pudlak syndrome 1
HGNC id 5163
Corresponding disease
HPS Hermansky-Pudlak syndrome
Location 10q24.2      Physical location : 100.175.955 - 100.206.704
Synonym name Hermansky-Pudlak syndrome
Synonym symbol(s) HPS, MGC5277, BLOC-3, BLOC3S1
DNA
TYPE functioning gene
SPECIAL FEATURE head to head, opposite orientation
text head to head arranged with ADK
STRUCTURE 31.90 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D10S571 /D10S1229 - D10S577 /D10S1768 - [D10S1433 - D10S110 /D10S184 - D10S2436 - D10S198 ] - D10S603 - qter
Authors Oh (96)
Text [HPS ]
Physical map
FRAT2 10q23-q24.1 frequently rearranged in advanced T-cell lymphomas 2 KIAA0690 10q23.33 frequently rearranged in advanced T-cell lymphomas 2 PGAM1 10q25.3 phosphoglycerate mutase 1 (brain) CSL4 10q24 exosomal core protein CSL4 ZDHHC16 10q24.1 zinc finger, DHHC domain containing 16 MMS19L 10q24-q25 MMS19-like (MET18 homolog, S. cerevisiae) FLJ11807 10q24.2 hypothetical protein FLJ11807 ANKRD2 10q23.31-q23.32 ankyrin repeat domain 2 (stretch responsive muscle) LOC112817 10q24.2 hypothetical protein BC011916 LOC118812 10q24.2 44050 protein PI4KII 10q24 44050 protein VIP32 10q24.2 vasopressin-induced transcript MGC4415 10q24.2 hypothetical protein MGC4415 FLJ32919 10q24.2 hypothetical protein FLJ32919 SFRP5 10q24.1 secreted frizzled-related protein 5 CRTAC1 10q22 cartilage acidic protein 1 C10orf28 10q24.2 chromosome 10 open reading frame 28 LOXL4 10q24 lysyl oxidase-like 4 C10orf33 10q24.2 chromosome 10 open reading frame 33 HPS1 10q23.1-q23.3 Hermansky-Pudlak syndrome 1 HPSE2 10q23-q24 heparanase 2 CNNM1 10q24.33 cyclin M1 GOT1 10q24 glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)
RNA
TRANSCRIPTS type messenger
text other variants, most of them lacking exon 9 (Oh)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 splicing 3714 79.3 700 - 1997 9182823
19 splicing 3698 - 376 ubiquitous 1997 9182823
10 splicing 1625 36 324 - 1997 9182823
  • differring in the 5' UTR
  • using an alternate 3' coding region compared to variant 1
  • 17 - 3380 - 580 - 1997 9182823
    18 - 3489 - 544 - 1997 9182823
    19 - 3561 - 667 - 1997 9182823
    19 - 3641 - 667 - 1997 9182823
    18 - 3541 - 376 - 1997 9182823
    18 - 3399 - 613 - 1997 9182823
    18 - 3479 - 613 - 1997 9182823
    19 - 3517 - 577 - 1997 9182823
    19 - 3597 - 577 - 1997 9182823
    20 - 3660 - 700 - 1997 9182823
    20 - 3740 - 700 - 1997 9182823
    20 - 3783 - 376 - 1997 9182823
    8 - 1340 - 275 - 1997 9182823
    9 - 1458 - 291 - 1997 9182823
    9 - 1518 - 308 - 1997 9182823
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  moderately
     intestinelarge intestinecolon moderately
     pancreas exocrine   moderately
     stomach   moderately
    Lymphoid/Immunelymph node   moderately
     spleen   predominantly
    Reproductivefemale systemplacenta  highly
     female systembreastmammary gland moderately
     female systemuteruscervix highly
     male systemprostate  moderately
    Skin/Tegumentskin   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-loop-helix (HLH) motif
  • two transmembrane domains (2TM)
  • a cytoplasmic lysosome/endosome trafficking motif
  • HOMOLOGY
    interspecies ortholog to rattus Hps1
    ortholog to murine Hps1
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • maturation or structure of cytoplasmic organelles, i-e melanosomes, platelet dense bodies, lysosomes
  • likely involved in assembly
  • involved in the biogenesis of early melanosomes
  • is essential for proper biogenesis of lysosome-related organelles
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    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
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specific and strong interaction with the GTP-bound form of the endosomal GTPase, RAB9A, interaction mediated by HPS4 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
  • AP3B1 play distinct roles in melanin production and tyrosinase distribution compared with HPS1 gene
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS