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

Gene ID: 5651, updated on 27-Nov-2024

Summary

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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
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Genomic context

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See TMPRSS15 in Genome Data Viewer
Location:
21q21.1
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (18269116..18485884, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (16628929..16845526, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (19641433..19858202, 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression. Hadorn B, et al. Arch Dis Child, 1975 Apr. PMID 1147667, Free PMC Article
  2. Malabsorption and growth failure due to intestinal enterokinase deficiency. Haworth JC, et al. J Pediatr, 1971 Mar. PMID 4322674
  3. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. Kitamoto Y, et al. Biochemistry, 1995 Apr 11. PMID 7718557
  4. 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
  5. 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

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

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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
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EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

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

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

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Preferred Names
enteropeptidase
Names
enterokinase catalytic subunit
protease, serine, 7 (enterokinase)
serine protease 7
transmembrane protease, serine 15
NP_001414985.1
NP_001414986.1
NP_002763.3
XP_011527957.1
XP_011527958.1
XP_011527960.1
XP_047296868.1
XP_047296869.1
XP_054180668.1
XP_054180669.1
XP_054180670.1
XP_054180671.1
XP_054180672.1
XP_054180673.1
XP_054180675.1
XP_054180676.1

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.

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_2024_08

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..18485884 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..16845526 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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

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

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

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

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

  8. 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

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