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    HPN hepsin [ Homo sapiens (human) ]

    Gene ID: 3249, updated on 4-Jan-2025

    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
    NEW
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    Genomic context

    See HPN in Genome Data Viewer
    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_000019.10Genomic 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (29 hits/1267 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in basement membrane disassembly PubMed 
    involved_in cochlea morphogenesis  
    involved_in detection of mechanical stimulus involved in sensory perception of sound  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of epithelial cell proliferation PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition  
    involved_in negative regulation of epithelial to mesenchymal transition PubMed 
    involved_in pilomotor reflex  
    involved_in positive regulation by host of viral transcription PubMed 
    involved_in positive regulation of cell growth PubMed 
    involved_in positive regulation of gene expression  
    involved_in positive regulation of hepatocyte proliferation PubMed 
    involved_in positive regulation of plasminogen activation PubMed 
    involved_in positive regulation of thyroid hormone generation  
    involved_in potassium ion transmembrane transport  
    involved_in proteolysis PubMed 
    involved_in regulation of cell shape  
    involved_in regulation of cell shape PubMed 
    involved_in response to thyroid hormone  
    Component Evidence Code Pubs
    located_in apical plasma membrane  
    located_in cell surface PubMed 
    located_in cell-cell junction  
    located_in endoplasmic reticulum membrane PubMed 
    located_in extracellular exosome PubMed 
    located_in membrane PubMed 
    located_in neuronal cell body  
    colocalizes_with nuclear membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    General protein information

    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)

    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_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_2024_08

    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, B2ZDQ2
      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, B2ZDQ2
    2. XM_054320808.1 → XP_054176783.1  serine protease hepsin isoform X2

      UniProtKB/TrEMBL
      B2ZDQ2, B7Z1L4
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