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HPN hepsin [ Homo sapiens (human) ]

Gene ID: 3249, updated on 8-Dec-2018

Summary

Official Symbol
HPNprovided by HGNC
Official Full Name
hepsinprovided by HGNC
Primary source
HGNC:HGNC:5155
See related
Ensembl:ENSG00000105707 MIM:142440
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMPRSS1
Summary
This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Expression
Biased expression in liver (RPKM 53.7), kidney (RPKM 49.5) and 5 other tissues See more
Orthologs

Genomic context

See HPN in Genome Data Viewer
Location:
19q13.11
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (35040506..35066573)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35531410..35557481)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GRAM domain containing 1A Neighboring gene sodium voltage-gated channel beta subunit 1 Neighboring gene HPN antisense RNA 1 Neighboring gene sushi, nidogen and EGF like domains 1 pseudogene Neighboring gene Fc fragment of IgG binding protein pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • MET Receptor Activation, organism-specific biosystem (from REACTOME)
    MET Receptor Activation, organism-specific biosystemHepatocyte growth factor (HGF), the ligand for MET receptor tyrosine kinase (RTK), is secreted into the extracellular matrix (ECM) as an inactive single chain precursor (pro-HGF). The biologically ac...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Signaling by MST1, organism-specific biosystem (from REACTOME)
    Signaling by MST1, organism-specific biosystemInflammatory mediators such as growth factors produced by macrophages play an important role in the inflammatory response occurring during bacterial infection, tissue injury and immune responses. Man...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium-activated potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
serine-type exopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
basement membrane disassembly IDA
Inferred from Direct Assay
more info
PubMed 
cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of mechanical stimulus involved in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
hepatocyte growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial to mesenchymal transition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
pilomotor reflex ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation by host of viral transcription IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of hepatocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of plasminogen activation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of thyroid hormone generation ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to thyroid hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
serine protease hepsin
Names
testicular tissue protein Li 85
transmembrane protease serine 1
NP_002142.1
NP_892028.1
XP_005258895.2
XP_016882220.1
XP_016882221.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002151.2NP_002142.1  serine protease hepsin precursor

    See identical proteins and their annotated locations for NP_002142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK091988, BC025716, M18930
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    P05981
    UniProtKB/TrEMBL
    A0A140VJK9
    Related
    ENSP00000376060.1, ENST00000392226.5
    Conserved Domains (2) summary
    cd00190
    Location:163400
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam09272
    Location:50159
    Hepsin-SRCR; Hepsin, SRCR
  2. NM_182983.2NP_892028.1  serine protease hepsin precursor

    See identical proteins and their annotated locations for NP_892028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC020907, BC025716, X07732
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    P05981
    UniProtKB/TrEMBL
    A0A140VJK9
    Related
    ENSP00000262626.2, ENST00000262626.6
    Conserved Domains (2) summary
    cd00190
    Location:163400
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam09272
    Location:50159
    Hepsin-SRCR; Hepsin, SRCR

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    35040506..35066573
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026731.1XP_016882220.1  serine protease hepsin isoform X1

    UniProtKB/Swiss-Prot
    P05981
    UniProtKB/TrEMBL
    A0A140VJK9
    Conserved Domains (2) summary
    cd00190
    Location:163400
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam09272
    Location:50159
    Hepsin-SRCR; Hepsin, SRCR
  2. XM_005258838.4XP_005258895.2  serine protease hepsin isoform X1

    See identical proteins and their annotated locations for XP_005258895.2

    UniProtKB/Swiss-Prot
    P05981
    UniProtKB/TrEMBL
    A0A140VJK9
    Conserved Domains (2) summary
    cd00190
    Location:163400
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam09272
    Location:50159
    Hepsin-SRCR; Hepsin, SRCR
  3. XM_017026732.1XP_016882221.1  serine protease hepsin isoform X2

    UniProtKB/TrEMBL
    B7Z1L4
    Conserved Domains (3) summary
    smart00020
    Location:134372
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:135372
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam09272
    Location:23131
    Hepsin-SRCR; Hepsin, SRCR
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