Hpn hepsin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hpnprovided by MGI
Official Full Name: hepsinprovided by MGI
Primary source: MGI:MGI:1196620
See related: Ensembl:ENSMUSG00000001249 AllianceGenome:MGI:1196620
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hlb320
Summary: This gene encodes a type II transmembrane serine protease that may function in diverse processes, including regulation of cell growth. Deficiency in this gene results in hearing loss. 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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
Expression: Biased expression in liver adult (RPKM 275.8), kidney adult (RPKM 197.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B1; 7 19.3 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (30798150..30814751, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (31098725..31115326, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis.
Title: Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis.
Hepsin enhances liver metabolism and inhibits adipocyte browning in mice.
Title: Hepsin enhances liver metabolism and inhibits adipocyte browning in mice.
crystal structure of human hepsin, confirming cleavage and association of the two chains
Title: The structure of the extracellular region of human hepsin reveals a serine protease domain and a novel scavenger receptor cysteine-rich (SRCR) domain.
Hepsin cooperates with MYC in the progression of adenocarcinoma in a prostate cancer mouse model.
Title: Hepsin cooperates with MYC in the progression of adenocarcinoma in a prostate cancer mouse model.
Ln-332 may be one mechanism by which hepsin promotes prostate tumor progression and metastasis, possibly by up-regulating prostate cancer cell motility.
Title: Laminin-332 is a substrate for hepsin, a protease associated with prostate cancer progression.
The ability of ectopic hepsin to induce tumor growth in mice is abrogated by the mutation of 3 critical residues in the catalytic domain, thus implicating the enzymatic activity of hepsin in promoting tumor progression.
Title: Hepsin colocalizes with desmosomes and induces progression of ovarian cancer in a mouse model.
Hearing impairment present in hepsin/Tmprss1-null mice is characterized by a combination of various structural, cellular, and molecular abnormalities that are likely to affect different cochlear processes.
Title: Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.
Results suggest that upregulation of the cell surface serine protease hepsin in a primary tumor promotes cancer progression and metastasis.
Title: Hepsin promotes prostate cancer progression and metastasis.
the ability of hepsin to efficiently activate pro-uPA suggests that it may initiate plasmin-mediated proteolytic pathways at the tumor/stroma interface that lead to basement membrane disruption and tumor progression
Title: Pro-urokinase-type plasminogen activator is a substrate for hepsin.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC15797P1 (e-PCR)
- UniSTS:271432

AI788568 (e-PCR)
- UniSTS:179546

AF030065 (e-PCR)
- UniSTS:159619

U85786 (e-PCR)
- UniSTS:159622

Hpn (e-PCR), detects polymorphism
- UniSTS:531087

D1Bda14 (e-PCR)
- UniSTS:239761

Hpn (e-PCR), detects polymorphism
- UniSTS:256677

Hpn (e-PCR), detects polymorphism
- UniSTS:256678

Hpn (e-PCR), detects polymorphism
- UniSTS:256679

Hpn (e-PCR), detects polymorphism
- UniSTS:256680

RH124663 (e-PCR)
- UniSTS:161485

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type exopeptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type peptidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in basement membrane disassembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cochlea morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelium development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within negative regulation of alkaline phosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in pilomotor reflex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation by host of viral transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hepatocyte proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of plasminogen activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of thyroid hormone generation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell shape	ISO Inferred from Sequence Orthology more info
involved_in response to thyroid hormone	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cell-cell junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: serine protease hepsin

NP_001103722.1

EC 3.4.21.106

NP_001263198.1

EC 3.4.21.106

NP_032307.2

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_001110252.2 → NP_001103722.1 serine protease hepsin isoform 1 precursor

See identical proteins and their annotated locations for NP_001103722.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.

Source sequence(s)

AC158993, BC138809, CJ237993

Consensus CDS

CCDS52188.1

UniProtKB/Swiss-Prot

B2RSC4, O35453, Q9CW97

UniProtKB/TrEMBL

Q3U0U6

Related

ENSMUSP00000103737.3, ENSMUST00000108102.9

Conserved Domains (3) summary

smart00020
Location:181 → 419

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:182 → 419

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:69 → 178

Hepsin-SRCR; Hepsin, SRCR
NM_001276269.1 → NP_001263198.1 serine protease hepsin isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC158993, BC138809, CJ237993

Consensus CDS

CCDS71936.1

UniProtKB/TrEMBL

E9Q5P0, Q3U0U6

Related

ENSMUSP00000038149.9, ENSMUST00000039435.15

Conserved Domains (2) summary

cd00190
Location:191 → 428

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:78 → 187

Hepsin-SRCR; Hepsin, SRCR
NM_008281.4 → NP_032307.2 serine protease hepsin isoform 2 precursor

See identical proteins and their annotated locations for NP_032307.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC158993, BC138809, CJ237993

Consensus CDS

CCDS52187.1

UniProtKB/TrEMBL

G3UWE8, Q3U0U6

Related

ENSMUSP00000131658.2, ENSMUST00000168884.8

Conserved Domains (3) summary

smart00020
Location:161 → 399

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:162 → 399

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:49 → 158

Hepsin-SRCR; Hepsin, SRCR