HPN hepsin [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35040506..35066573)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (37585124..37611169)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (35531410..35557477)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepsin promotes breast tumor growth signaling via the TGFbeta-EGFR axis.
Title: Hepsin promotes breast tumor growth signaling via the TGFβ-EGFR axis.
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.
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.
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.
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.
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.
Hepsin: a multifunctional transmembrane serine protease in pathobiology.
Title: Hepsin: a multifunctional transmembrane serine protease in pathobiology.
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.
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.
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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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

D1S3531 (e-PCR)
- UniSTS:3866

STS-W87423 (e-PCR)
- UniSTS:71501

STS-L16242 (e-PCR)
- UniSTS:56151

D19S1003 (e-PCR)
- UniSTS:43355

D10S16 (e-PCR)
- UniSTS:155756

SHGC-33311 (e-PCR)
- UniSTS:56718

G44334 (e-PCR)
- UniSTS:95121

RH65199 (e-PCR)
- UniSTS:24487

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 more info	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

EC 3.4.21.106

NP_001371062.1

EC 3.4.21.106

NP_002142.1

EC 3.4.21.106

NP_892028.1

EC 3.4.21.106

XP_016882220.1

EC 3.4.21.106

XP_016882221.1

EC 3.4.21.106

XP_047294697.1

EC 3.4.21.106

XP_054176782.1

EC 3.4.21.106

XP_054176783.1

EC 3.4.21.106

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)

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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35040506..35066573

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RDS4, P05981

UniProtKB/TrEMBL

A0A140VJK9

Related

ENSP00000500909.1, ENST00000673426.1
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
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

NC_060943.1 Alternate T2T-CHM13v2.0

Range

37585124..37611169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RDS4, P05981

UniProtKB/TrEMBL

A0A140VJK9
XM_054320808.1 → XP_054176783.1 serine protease hepsin isoform X2

UniProtKB/TrEMBL

B7Z1L4