U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    TMPRSS15 transmembrane serine protease 15 [ Homo sapiens (human) ]

    Gene ID: 5651, updated on 3-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    TMPRSS15provided by HGNC
    Official Full Name
    transmembrane serine protease 15provided by HGNC
    Primary source
    HGNC:HGNC:9490
    See related
    Ensembl:ENSG00000154646 MIM:606635; AllianceGenome:HGNC:9490
    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
    ENTK; PRSS7
    Summary
    This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward duodenum (RPKM 404.7) See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    21q21.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (18269116..18460676, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (16628929..16765863, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (19641433..19776102, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:19275561-19276119 Neighboring gene uncharacterized LOC124905000 Neighboring gene ribosomal protein L37 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:19366518-19367018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:19367019-19367519 Neighboring gene chondrolectin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr21:19527809-19528341 Neighboring gene NANOG hESC enhancer GRCh37_chr21:19633596-19634097 Neighboring gene NANOG hESC enhancer GRCh37_chr21:19670536-19671363 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:19940595-19941314 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:19941315-19942032 Neighboring gene MIR548X host gene Neighboring gene MPRA-validated peak4355 silencer Neighboring gene microRNA 548x Neighboring gene MPRA-validated peak4356 silencer Neighboring gene peptidylprolyl isomerase A pseudogene 22

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Human enteropeptidase light chain: bioengineering of recombinants and kinetic investigations of structure and function. Smith ET, et al. Protein Sci, 2013 May. PMID 23436726, Free PMC Article
    2. Enteropeptidase: a gene associated with a starvation human phenotype and a novel target for obesity treatment. Braud S, et al. PLoS One, 2012. PMID 23185382, Free PMC Article
    3. Dissecting structural basis of the unique substrate selectivity of human enteropeptidase catalytic subunit. Ostapchenko VG, et al. J Biomol Struct Dyn, 2012. PMID 22571433
    4. Crystal structure of a supercharged variant of the human enteropeptidase light chain. Simeonov P, et al. Proteins, 2012 Jul. PMID 22488687
    5. Expression of enteropeptidase in differentiated enterocytes, goblet cells, and the tumor cells in human duodenum. Imamura T, et al. Am J Physiol Gastrointest Liver Physiol, 2003 Dec. PMID 12907431

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enterokinases was able to enhance the proliferation of H1N1 virus in 293T human kidney cells, but the proliferation was reduced by knocking down the endogenous enterokinase in A549 cells.
      Title: Enterokinase Enhances Influenza A Virus Infection by Activating Trypsinogen in Human Cell Lines.
    2. The Y174R variant showed improved specificities for substrates containing the sequences DDDDK (kcat/KM = 6.83 x 106 M-1 sec-1) and DDDDR (kcat/KM = 1.89 x 107 M-1 sec-1) relative to all other enteropeptidase variants reported to date.
      Title: Human enteropeptidase light chain: bioengineering of recombinants and kinetic investigations of structure and function.
    3. Enteropeptidase is a gene associated with a starvation human phenotype and a novel target for obesity treatment
      Title: Enteropeptidase: a gene associated with a starvation human phenotype and a novel target for obesity treatment.
    4. Human enteropeptidase shows 10x faster kinetics compared to other animal sources but low solubility under low salt conditions. A supercharged variant of enteropeptidase light chain with increased solubility was used for crystallization.
      Title: Crystal structure of a supercharged variant of the human enteropeptidase light chain.
    5. Characterization of the different catalytic activity of human and bovine enteropeptidase light chains toward hydrolysis of peptides and proteins lacking tetraaspartate sequence.
      Title: Dissecting structural basis of the unique substrate selectivity of human enteropeptidase catalytic subunit.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Because mesotrypsin is resistant to naturally occurring trypsin inhibitors, confined expression of the isoforms of mesotrypsinogens and enteropeptidase may indicate that mesotrypsin is involved in keratinocyte terminal differentiation
      Title: Keratinocytes synthesize enteropeptidase and multiple forms of trypsinogen during terminal differentiation.
    8. Enterokinase directly cleaved proMMP-9 at the Lys65-Ser66 site.
      Title: Intracellular co-localization of trypsin-2 and matrix metalloprotease-9: possible proteolytic cascade of trypsin-2, MMP-9 and enterokinase in carcinoma.
    9. Produced in enterocytes and goblet cells. Localization on brush border of cells for physiological activation of digestive enzymes. In duodenal polyps and adenocarcinoma at duodenum but not in Brunner's gland adenoma.
      Title: Expression of enteropeptidase in differentiated enterocytes, goblet cells, and the tumor cells in human duodenum.
    10. Engineered recombinant enteropeptidase catalytic subunit: effect of N-terminal modification
      Title: Engineered recombinant enteropeptidase catalytic subunit: effect of N-terminal modification.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Enterokinase deficiency
    MedGen: C0268416 OMIM: 226200 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC133046

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in brush border TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    enteropeptidase
    Names
    enterokinase catalytic subunit
    protease, serine, 7 (enterokinase)
    serine protease 7
    transmembrane protease, serine 15
    NP_002763.3
    XP_011527957.1
    XP_011527958.1
    XP_011527960.1
    XP_047296868.1
    XP_047296869.1
    XP_054180667.1
    XP_054180668.1
    XP_054180669.1
    XP_054180670.1
    XP_054180671.1
    XP_054180672.1
    XP_054180673.1
    XP_054180674.1
    XP_054180675.1
    XP_054180676.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    Genomic

    1. NG_012207.2 RefSeqGene

      Range
      61891..196560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001428056.1 → NP_001414985.1  enteropeptidase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL078474, AL109763, AP000455, AP000456

    2. NM_001428057.1 → NP_001414986.1  enteropeptidase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL078474, AL109763, AP000455, AP000456
      UniProtKB/Swiss-Prot
      P98073, Q2NKL7

    3. NM_002772.3 → NP_002763.3  enteropeptidase isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL078474, AP000455, AP000456
      Consensus CDS
      CCDS13571.1
      UniProtKB/Swiss-Prot
      P98073, Q2NKL7
      Related
      ENSP00000284885.3, ENST00000284885.8
      Conserved Domains (6) summary
      smart00200
      Location:53 → 172
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00202
      Location:678 → 771
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:643 → 677
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:785 → 1016
      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 ...
      pfam00431
      Location:524 → 631
      CUB; CUB domain
      pfam00629
      Location:347 → 503
      MAM; MAM domain, meprin/A5/mu

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      18269116..18460676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440913.1 → XP_047296869.1  enteropeptidase isoform X3

      UniProtKB/Swiss-Prot
      P98073, Q2NKL7

    2. XM_047440912.1 → XP_047296868.1  enteropeptidase isoform X1

    3. XM_011529655.2 → XP_011527957.1  enteropeptidase isoform X1

      See identical proteins and their annotated locations for XP_011527957.1

      Conserved Domains (8) summary
      cd06263
      Location:392 → 547
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00020
      Location:829 → 1059
      Tryp_SPc; Trypsin-like serine protease
      smart00137
      Location:387 → 547
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00200
      Location:53 → 195
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00202
      Location:723 → 816
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:688 → 722
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:830 → 1061
      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 ...
      pfam00431
      Location:569 → 676
      CUB; CUB domain

    4. XM_011529656.3 → XP_011527958.1  enteropeptidase isoform X1

      See identical proteins and their annotated locations for XP_011527958.1

      Conserved Domains (8) summary
      cd06263
      Location:392 → 547
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00020
      Location:829 → 1059
      Tryp_SPc; Trypsin-like serine protease
      smart00137
      Location:387 → 547
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00200
      Location:53 → 195
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00202
      Location:723 → 816
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:688 → 722
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:830 → 1061
      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 ...
      pfam00431
      Location:569 → 676
      CUB; CUB domain

    5. XM_011529658.3 → XP_011527960.1  enteropeptidase isoform X2

      Conserved Domains (8) summary
      cd06263
      Location:365 → 520
      MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
      smart00020
      Location:802 → 1032
      Tryp_SPc; Trypsin-like serine protease
      smart00137
      Location:360 → 520
      MAM; Domain in meprin, A5, receptor protein tyrosine phosphatase mu (and others)
      smart00200
      Location:53 → 199
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00202
      Location:696 → 789
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:661 → 695
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:803 → 1034
      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 ...
      pfam00431
      Location:542 → 649
      CUB; CUB domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      16628929..16765863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324700.1 → XP_054180675.1  enteropeptidase isoform X6

    2. XM_054324699.1 → XP_054180674.1  enteropeptidase isoform X3

    3. XM_054324697.1 → XP_054180672.1  enteropeptidase isoform X5

    4. XM_054324695.1 → XP_054180670.1  enteropeptidase isoform X4

    5. XM_054324692.1 → XP_054180667.1  enteropeptidase isoform X1

    6. XM_054324693.1 → XP_054180668.1  enteropeptidase isoform X1

    7. XM_054324694.1 → XP_054180669.1  enteropeptidase isoform X1

    8. XM_054324701.1 → XP_054180676.1  enteropeptidase isoform X6

    9. XM_054324698.1 → XP_054180673.1  enteropeptidase isoform X5

    10. XM_054324696.1 → XP_054180671.1  enteropeptidase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P98073.3 GenPept UniProtKB/Swiss-Prot:P98073

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous