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HPN hepsin [ Homo sapiens (human) ]

Gene ID: 3249, updated on 3-Apr-2024

Summary

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Official Symbol
HPNprovided by HGNC
Official Full Name
hepsinprovided by HGNC
Primary source
HGNC:HGNC:5155
See related
Ensembl:ENSG00000105707 MIM:142440; AllianceGenome:HGNC:5155
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
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Genomic context

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See HPN in Genome Data Viewer
Location:
19q13.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35040506..35066573)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37585124..37611169)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35531410..35557477)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:35488612-35489287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10513 Neighboring gene GRAM domain containing 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35495135-35495680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35495681-35496225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10514 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35521843-35521951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35531257-35532096 Neighboring gene sodium voltage-gated channel beta subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35556563-35557324 Neighboring gene HPN antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35558779-35559464 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35559465-35560150 Neighboring gene MPRA-validated peak3446 silencer Neighboring gene sushi, nidogen and EGF like domains 1 pseudogene Neighboring gene Fc gamma binding protein pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35575022-35575836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14455

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Hepsin: a multifunctional transmembrane serine protease in pathobiology. Li S, et al. FEBS J, 2021 Sep. PMID 33300264
  2. Excess hepsin proteolytic activity limits oncogenic signaling and induces ER stress and autophagy in prostate cancer cells. Willbold R, et al. Cell Death Dis, 2019 Aug 9. PMID 31399560, Free PMC Article
  3. Exploring hepsin functional genetic variation association with disease specific protein expression in bipolar disorder: Applications of a proteomic informed genomic approach. Nassan M, et al. J Psychiatr Res, 2017 Dec. PMID 28886448
  4. High Hepsin expression predicts poor prognosis in Gastric Cancer. Zhang M, et al. Sci Rep, 2016 Nov 14. PMID 27841306, Free PMC Article
  5. The Role of Hepsin in Endometrial Carcinoma. El-Rebey HS, et al. Appl Immunohistochem Mol Morphol, 2017 Oct. PMID 26990747

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hepsin promotes breast tumor growth signaling via the TGFbeta-EGFR axis.
    Title: Hepsin promotes breast tumor growth signaling via the TGFβ-EGFR axis.
  2. N-glycosylation mediated folding and quality control in serine proteases of the hepsin family.
    Title: N-glycosylation mediated folding and quality control in serine proteases of the hepsin family.
  3. Spatial position is a key determinant of N-glycan functionality of the scavenger receptor cysteine-rich domain of human hepsin.
    Title: Spatial position is a key determinant of N-glycan functionality of the scavenger receptor cysteine-rich domain of human hepsin.
  4. Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.
    Title: Silencing of hepsin and inosine 5-monophosphate dehydrogenase 2 by siRNA reduces prostate cancer cells proliferation.
  5. The POR rs10954732 polymorphism decreases susceptibility to hepatocellular carcinoma and hepsin as a prognostic biomarker correlated with immune infiltration based on proteomics.
    Title: The POR rs10954732 polymorphism decreases susceptibility to hepatocellular carcinoma and hepsin as a prognostic biomarker correlated with immune infiltration based on proteomics.
  6. The transmembrane serine protease hepsin suppresses type I interferon induction by cleaving STING.
    Title: The transmembrane serine protease hepsin suppresses type I interferon induction by cleaving STING.
  7. Hepsin: a multifunctional transmembrane serine protease in pathobiology.
    Title: Hepsin: a multifunctional transmembrane serine protease in pathobiology.
  8. Oncogenic Ras Disrupts Epithelial Integrity by Activating the Transmembrane Serine Protease Hepsin.
    Title: Oncogenic Ras Disrupts Epithelial Integrity by Activating the Transmembrane Serine Protease Hepsin.
  9. Our results demonstrate that a precise control of Hepsin proteolytic activity is critical for PCa cell fate and suggest, that the interference with ERAD could be a promising therapeutic option, leading to induction of proteotoxicity in hepsin-overexpressing tumors.
    Title: Excess hepsin proteolytic activity limits oncogenic signaling and induces ER stress and autophagy in prostate cancer cells.
  10. Autoactivation and calpain-1-mediated shedding of hepsin in human hepatoma cells.
    Title: Autoactivation and calpain-1-mediated shedding of hepsin in human hepatoma cells.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
serine protease hepsin
Names
testicular tissue protein Li 85
transmembrane protease serine 1
NP_001362370.1
NP_001371062.1
NP_002142.1
NP_892028.1
XP_016882220.1
XP_016882221.1
XP_047294697.1
XP_054176782.1
XP_054176783.1

NCBI Reference Sequences (RefSeq)

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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_001375441.3 → NP_001362370.1  serine protease hepsin precursor

    Status: REVIEWED

    Source sequence(s)
    AC020907
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9, B2ZDQ2
    Conserved Domains (2) summary
    cd00190
    Location:163 → 400
    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:51 → 159
    Hepsin-SRCR; Hepsin, SRCR

  2. NM_001384133.1 → NP_001371062.1  serine protease hepsin precursor

    Status: REVIEWED

    Source sequence(s)
    AC020907
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9, B2ZDQ2
    Related
    ENSP00000500664.1, ENST00000672452.2
    Conserved Domains (2) summary
    cd00190
    Location:163 → 400
    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:51 → 159
    Hepsin-SRCR; Hepsin, SRCR

  3. NM_002151.5 → NP_002142.1  serine protease hepsin precursor

    See identical proteins and their annotated locations for NP_002142.1

    Status: REVIEWED

    Source sequence(s)
    AC020907
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9, B2ZDQ2
    Related
    ENSP00000376060.1, ENST00000392226.5
    Conserved Domains (2) summary
    cd00190
    Location:163 → 400
    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:51 → 159
    Hepsin-SRCR; Hepsin, SRCR

  4. NM_182983.5 → NP_892028.1  serine protease hepsin precursor

    See identical proteins and their annotated locations for NP_892028.1

    Status: REVIEWED

    Source sequence(s)
    AC020907
    Consensus CDS
    CCDS32993.1
    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9, B2ZDQ2
    Related
    ENSP00000262626.2, ENST00000262626.6
    Conserved Domains (2) summary
    cd00190
    Location:163 → 400
    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:51 → 159
    Hepsin-SRCR; Hepsin, SRCR

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047438741.1 → XP_047294697.1  serine protease hepsin isoform X1

    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9
    Related
    ENSP00000500909.1, ENST00000673426.1

  2. XM_017026731.2 → XP_016882220.1  serine protease hepsin isoform X1

    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9, B2ZDQ2
    Conserved Domains (2) summary
    cd00190
    Location:163 → 400
    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:51 → 159
    Hepsin-SRCR; Hepsin, SRCR

  3. XM_017026732.2 → XP_016882221.1  serine protease hepsin isoform X2

    UniProtKB/TrEMBL
    B2ZDQ2, B7Z1L4
    Related
    ENST00000541345.6
    Conserved Domains (3) summary
    smart00020
    Location:134 → 372
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:135 → 372
    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:23 → 131
    Hepsin-SRCR; Hepsin, SRCR

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37585124..37611169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320807.1 → XP_054176782.1  serine protease hepsin isoform X1

    UniProtKB/Swiss-Prot
    B2RDS4, P05981
    UniProtKB/TrEMBL
    A0A140VJK9

  2. XM_054320808.1 → XP_054176783.1  serine protease hepsin isoform X2

    UniProtKB/TrEMBL
    B7Z1L4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P05981.1 GenPept UniProtKB/Swiss-Prot:P05981

Gene LinkOut

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