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Hpn hepsin [ Mus musculus (house mouse) ]

Gene ID: 15451, updated on 12-May-2024

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
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Genomic context

See Hpn in Genome Data Viewer
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_000073.7Genomic Context describing neighboring genes Neighboring gene leucine-rich repeat LGI family, member 4 Neighboring gene FXYD domain-containing ion transport regulator 3 Neighboring gene predicted gene, 53358 Neighboring gene STARR-positive B cell enhancer mm9_chr7:31896031-31896332 Neighboring gene sodium channel, voltage-gated, type I, beta Neighboring gene GRAM domain containing 1A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 
  • Targeted (2)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
serine protease hepsin
NP_001103722.1
NP_001263198.1
NP_032307.2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001110252.2NP_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:181419
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:182419
    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:69178
    Hepsin-SRCR; Hepsin, SRCR
  2. NM_001276269.1NP_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:191428
    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:78187
    Hepsin-SRCR; Hepsin, SRCR
  3. NM_008281.4NP_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:161399
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:162399
    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:49158
    Hepsin-SRCR; Hepsin, SRCR

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    30798150..30814751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)