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FLASH GENE
Symbol HPN contributors: mct - updated : 28-09-2013
HGNC name hepsin (transmembrane protease, serine 1)
HGNC id 5155
Location 19q13.11      Physical location : 35.531.409 - 35.557.475
Synonym symbol(s) HEPS, TMPRSS1
EC.number 3.4.21.106
DNA
TYPE functioning gene
STRUCTURE 26.07 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC390919 19 similar to ZNF140-like transcription factor LOC390920 19 similar to zinc finger protein 2 ZNF302 19q13.2 zinc finger protein 302 LOC390921 19 similar to Major allergen I polypeptide chain 1 major form precursor (Allergen Fel d 1-A) (Fel d I-A) (Allergen Cat-1) (Fel dI) (AG4) ZNF181 19q13.1-q13.3 zinc finger protein 181 (HHZ181) FLJ30663 19q13.13 hypothetical protein FLJ30663 LOC390922 19 similar to FLJ38451 protein LOC390923 19 similar to zinc finger protein 113 LOC342885 19q13.13 similar to ABO histo-blood group B transferase DKFZp686N19164 FLJ38451 19q13.13 FLJ38451 protein KIAA1533 19q13.13 KIAA1533 SCN1B 19q13.1 sodium channel, voltage-gated, type I, beta HPN 19q13.1 hepsin (transmembrane protease, serine 1) LOC339320 19q13.13 similar to tectorin alpha precursor; Tectorin, alpha FXYD3 19q13.13 FXYD domain containing ion transport regulator 3 LGI4 19q13.12 leucine-rich repeat LGI family, member 4 FXYD1 19q13.1 FXYD domain containing ion transport regulator 1 (phospholemman) FXYD7 19q13.13 FXYD domain containing ion transport regulator 7 FXYD5 19q12-q13.1 FXYD domain containing ion transport regulator 5 FLJ25660 19q13.13 hypothetical protein FLJ25660 LISCH7 19q13.13 LISCH protein USF2 19q13.1 upstream transcription factor 2, c-fos interacting HAMP 19q13.1 hepcidin antimicrobial peptide MAG 19q13.1 myelin associated glycoprotein FLJ22814 19q13.13 hypothetical protein FLJ22814 CD22 19q13.1 CD22 antigen GPR40 19q13.1 G protein-coupled receptor 40 GPR41 19q13.1 G protein-coupled receptor 41 GPR42 19q13.1 G protein-coupled receptor 42 LOC390924 19 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) GPR43 19q13.1 G protein-coupled receptor 43 LOC388533 19 similar to KIPV467 ZD52F10 19q13.13 hypothetical gene ZD52F10
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2389 - 417 - Kirchhofer
HPN - V1
14 - 1809 - 417 - Kirchhofer
HPN - V2
12 splicing 1116 75 - kidney, brain lung Li
  • not contain exons 4 and 5, which together encode the transmembrane domain
  • non-transmembrane isoform
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   predominantly Homo sapiens
    Lymphoid/Immunetonsils   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • catalytic subunit (C-terminal half) at the cell surface and its N terminus facing the cytosol
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • type II membrane-associated proteins
  • normally expressed at the cell surface
  • basic FUNCTION
  • cell membrane associated serine protease, involved in processes such as blood coagulation, fibrinolysis, and complement activation
  • having potential roles in development, cell growth, and cell-surface initiation of blood coagulation
  • activating factor VII
  • is required for normal auditory function
  • may play important and specific roles in hearing
  • promotes prostate cancer progression and metastasis and thus represents a potential therapeutic target
  • type II transmembrane trypsin-like serine protease, mediating epithelial integrity and basement membrane (BM) defects
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activates prostasin (PRSS8) and cleaves the extracellular domain of the epidermal growth factor receptor (EGFR)
  • SPINT2 is a tumor suppressor gene that inhibits proteases implicated in cancer progression, like HGFAC, HPN and ST14
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate cancer with poor prognosis
    tumoral     --over  
    in ovarian cancer
    tumoral     --over  
    is one of the most consistently overexpressed genes in patients with prostate cancer
    tumoral     --over  
    in breast cancer tissues, which is associated with tumor growth and progression
    tumoral     --over  
    could be an important indication for high risk of endometrial cancer
    Susceptibility to prostate cancer
    Variant & Polymorphism SNP
  • three SNPs (rs45512696, rs2305745, rs2305747) were significantly associated with the risk of prostate cancer
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    inhibition of hepsin expression might be of therapeutic significance
    ANIMAL & CELL MODELS
  • deletion of hepsin (hepsin(-/-)) in mice resulted in enlarged hepatocytes and narrowed liver sinusoids
  • hearing impairment present in Hpn-null mice is characterized by a combination of various structural, cellular, and molecular abnormalities that are likely to affect different cochlear processes