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 enterokinas... See more...

Aliases for TMPRSS15 Gene

Aliases for TMPRSS15 Gene

  • Transmembrane Serine Protease 15 2 3 5
  • Enteropeptidase 2 3 4
  • ENTK 2 3 4
  • Protease, Serine, 7 (Enterokinase) 2 3
  • Transmembrane Protease, Serine 15 2 3
  • Serine Protease 7 3 4
  • EC 3.4.21.9 4 50
  • PRSS7 3 4
  • Transmembrane Protease Serine 15 4
  • Enterokinase Catalytic Subunit 3
  • Proenterokinase 2
  • Enterokinase 4
  • MGC133046 2
  • EC 3.4.21 50
  • TMPRSS15 5

External Ids for TMPRSS15 Gene

Previous HGNC Symbols for TMPRSS15 Gene

  • PRSS7

Previous GeneCards Identifiers for TMPRSS15 Gene

  • GC21M019641
  • GC21M005029

Summaries for TMPRSS15 Gene

Entrez Gene Summary for TMPRSS15 Gene

  • 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]

GeneCards Summary for TMPRSS15 Gene

TMPRSS15 (Transmembrane Serine Protease 15) is a Protein Coding gene. Diseases associated with TMPRSS15 include Enterokinase Deficiency and Diarrhea. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is ST14.

UniProtKB/Swiss-Prot Summary for TMPRSS15 Gene

  • Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMPRSS15 Gene

Genomics for TMPRSS15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMPRSS15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J018485 Promoter 0.3 EPDnew 250.7 0.0 -25 0.1 ENSG00000228708 HSALNG0132138 TMPRSS15
GH21J018442 Enhancer 0.6 VISTA Ensembl ENCODE 11.9 +42.7 42694 2.3 POLR2A ENSG00000228708 TMPRSS15 piR-41525-435 HSALNG0132137 C21orf91
GH21J018460 Enhancer 0.4 Ensembl 11.2 +24.3 24278 2.8 SPI1 POLR2A MAFK HSALNG0132137 piR-59297-426 ENSG00000228708 TMPRSS15 C21orf91
GH21J018517 Enhancer 0.3 Ensembl 11.7 -32.3 -32306 0.9 RAD21 POLR2A ENSG00000228708 TMPRSS15 HSALNG0132139 HSALNG0132141-001
GH21J018411 Enhancer 0.3 Ensembl ENCODE 10.7 +73.9 73878 2 ENSG00000228708 TMPRSS15 piR-36588-249 MK280144-424 HSALNG0132137 C21orf91
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMPRSS15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMPRSS15

Genomic Locations for TMPRSS15 Gene

Latest Assembly
chr21:18,269,107-18,485,879
(GRCh38/hg38)
Size:
216,773 bases
Orientation:
Minus strand

Previous Assembly
chr21:19,641,433-19,776,102
(GRCh37/hg19 by Entrez Gene)
Size:
134,670 bases
Orientation:
Minus strand

chr21:19,641,433-19,858,197
(GRCh37/hg19 by Ensembl)
Size:
216,765 bases
Orientation:
Minus strand

Genomic View for TMPRSS15 Gene

Genes around TMPRSS15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMPRSS15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMPRSS15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMPRSS15 Gene

Proteins for TMPRSS15 Gene

  • Protein details for TMPRSS15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98073-ENTK_HUMAN
    Recommended name:
    Enteropeptidase
    Protein Accession:
    P98073
    Secondary Accessions:
    • Q2NKL7

    Protein attributes for TMPRSS15 Gene

    Size:
    1019 amino acids
    Molecular mass:
    112935 Da
    Quaternary structure:
    • Heterodimer of a catalytic (light) chain and a multidomain (heavy) chain linked by a disulfide bond.
    SequenceCaution:
    • Sequence=CAB90389.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TMPRSS15 Gene

neXtProt entry for TMPRSS15 Gene

Selected DME Specific Peptides for TMPRSS15 Gene

P98073:
  • FSTTNRMTV
  • CPDGSDE
  • SNLTSPQ
  • IALDDISLT
  • GDSGGPL
  • PEYNITE
  • DSCQGDSGG
  • NWNYGQVTLNET
  • CQGDSGGP
  • LGIPEPC
  • SGFYISTPT
  • LAVYTGPGPV

Post-translational modifications for TMPRSS15 Gene

  • The chains are derived from a single precursor that is cleaved by a trypsin-like protease.
  • Glycosylation at Asn116, Asn147, Asn179, Asn328, Asn335, Asn388, Asn440, Asn470, Asn503, Asn534, Asn630, Asn682, Asn706, Asn725, Asn848, Asn887, Asn909, and Asn949
  • Modification sites at PhosphoSitePlus

Domains & Families for TMPRSS15 Gene

Gene Families for TMPRSS15 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TMPRSS15 Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • CUB domain
  • Low density lipoprotein-receptor, class A
  • Speract/scavenger receptor
  • SEA domain
  • MAM domain signature

Suggested Antigen Peptide Sequences for TMPRSS15 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protease serine 15 (ENTK_HUMAN)
  • Enteropeptidase (Q9NR95_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P98073

UniProtKB/Swiss-Prot:

ENTK_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with TMPRSS15: view

Function for TMPRSS15 Gene

Molecular function for TMPRSS15 Gene

UniProtKB/Swiss-Prot Function:
Responsible for initiating activation of pancreatic proteolytic proenzymes (trypsin, chymotrypsin and carboxypeptidase A). It catalyzes the conversion of trypsinogen to trypsin which in turn activates other proenzymes including chymotrypsinogen, procarboxypeptidases, and proelastases.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Activation of trypsinogen by selective cleavage of 6-Lys-|-Ile-7 bond.; EC=3.4.21.9;.

Enzyme Numbers (IUBMB) for TMPRSS15 Gene

Phenotypes From GWAS Catalog for TMPRSS15 Gene

Gene Ontology (GO) - Molecular Function for TMPRSS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IEA,IPI 24407287
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with TMPRSS15: view
genes like me logo Genes that share phenotypes with TMPRSS15: view

Human Phenotype Ontology for TMPRSS15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMPRSS15 Gene

MGI Knock Outs for TMPRSS15:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMPRSS15

No data available for Transcription Factor Targets and HOMER Transcription for TMPRSS15 Gene

Localization for TMPRSS15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMPRSS15 Gene

Membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMPRSS15 gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMPRSS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005903 brush border TAS 8052624
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMPRSS15: view

Pathways & Interactions for TMPRSS15 Gene

PathCards logo

SuperPathways for TMPRSS15 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMPRSS15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with TMPRSS15: view

No data available for Pathways by source and SIGNOR curated interactions for TMPRSS15 Gene

Drugs & Compounds for TMPRSS15 Gene

(9) Drugs for TMPRSS15 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for TMPRSS15 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TMPRSS15: view

Transcripts for TMPRSS15 Gene

mRNA/cDNA for TMPRSS15 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMPRSS15

Alternative Splicing Database (ASD) splice patterns (SP) for TMPRSS15 Gene

No ASD Table

Relevant External Links for TMPRSS15 Gene

GeneLoc Exon Structure for
TMPRSS15

Expression for TMPRSS15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMPRSS15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TMPRSS15 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x47.3).

Protein differential expression in normal tissues from HIPED for TMPRSS15 Gene

This gene is overexpressed in Pancreatic juice (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TMPRSS15 Gene



Protein tissue co-expression partners for TMPRSS15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMPRSS15

SOURCE GeneReport for Unigene cluster for TMPRSS15 Gene:

Hs.149473

mRNA Expression by UniProt/SwissProt for TMPRSS15 Gene:

P98073-ENTK_HUMAN
Tissue specificity: Intestinal brush border.

Evidence on tissue expression from TISSUES for TMPRSS15 Gene

  • Intestine(4.7)
  • Skin(2.2)
  • Pancreas(2.2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMPRSS15 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • integumentary
Regions:
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • skin
genes like me logo Genes that share expression patterns with TMPRSS15: view

Primer products for research

Orthologs for TMPRSS15 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMPRSS15 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMPRSS15 29 30
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TMPRSS15 29 30
  • 88.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMPRSS15 29 30
  • 86.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmprss15 29 16 30
  • 80.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tmprss15 29
  • 78.48 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 37 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 30 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves TMPRSS15 29
  • 65.71 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmprss15 29
  • 63.73 (n)
Zebrafish
(Danio rerio)
Actinopterygii tmprss15 29
  • 54.97 (n)
Species where no ortholog for TMPRSS15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMPRSS15 Gene

ENSEMBL:
Gene Tree for TMPRSS15 (if available)
TreeFam:
Gene Tree for TMPRSS15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMPRSS15: view image
Alliance of Genome Resources:
Additional Orthologs for TMPRSS15

Paralogs for TMPRSS15 Gene

genes like me logo Genes that share paralogs with TMPRSS15: view

Variants for TMPRSS15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMPRSS15 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1028046 Uncertain Significance: Enterokinase deficiency 18,343,543(-) T/C
NM_002772.3(TMPRSS15):c.1391A>G (p.Tyr464Cys)
MISSENSE
1028047 Uncertain Significance: Enterokinase deficiency 18,341,506(-) C/T
NM_002772.3(TMPRSS15):c.1471G>A (p.Ala491Thr)
MISSENSE
1028048 Pathogenic: Enterokinase deficiency 18,341,464(-) TC/T
NM_002772.3(TMPRSS15):c.1512del (p.Ser505fs)
FRAMESHIFT
1032088 Pathogenic: Enterokinase deficiency 18,313,078(-) C/T
NM_002772.3(TMPRSS15):c.2033-1G>A
SPLICE_ACCEPTOR
1032843 Pathogenic: Enterokinase deficiency 18,281,108(-) T/TATCTATTAATC
NM_002772.3(TMPRSS15):c.2599_2600insGATTAATAGAT (p.His867fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMPRSS15 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TMPRSS15 Gene

Variant ID Type Subtype PubMed ID
esv1003839 CNV deletion 20482838
esv1470738 CNV deletion 17803354
esv2657867 CNV deletion 23128226
esv2723212 CNV deletion 23290073
esv2751925 CNV loss 17911159
esv3568117 CNV loss 25503493
esv3646495 CNV loss 21293372
esv3646496 CNV loss 21293372
esv3893383 CNV gain 25118596
nsv1062977 CNV gain 25217958
nsv1071748 CNV deletion 25765185
nsv1073119 CNV deletion 25765185
nsv1077922 CNV duplication 25765185
nsv1109416 CNV deletion 24896259
nsv1153934 CNV deletion 26484159
nsv187307 CNV insertion 16902084
nsv3470 CNV insertion 18451855
nsv459105 CNV loss 19166990
nsv459106 CNV loss 19166990
nsv472160 CNV novel sequence insertion 20440878
nsv518906 CNV loss 19592680
nsv522137 CNV loss 19592680
nsv522760 CNV loss 19592680
nsv587137 CNV loss 21841781
nsv587138 CNV loss 21841781
nsv587139 CNV loss 21841781
nsv819544 CNV gain 19587683
nsv956719 CNV deletion 24416366

Variation tolerance for TMPRSS15 Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.78; 94.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMPRSS15 Gene

Human Gene Mutation Database (HGMD)
TMPRSS15
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMPRSS15
Leiden Open Variation Database (LOVD)
TMPRSS15

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMPRSS15 Gene

Disorders for TMPRSS15 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TMPRSS15 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
enterokinase deficiency
  • enteropeptidase deficiency
diarrhea
  • diarrhea of presumed infectious origin
acute pancreatitis
  • acute necrotizing pancreatitis
pancreatitis
ciliary dyskinesia, primary, 26
  • cild26
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ENTK_HUMAN
  • Enterokinase deficiency (ENTKD) [MIM:226200]: Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive. {ECO:0000269 PubMed:11719902}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TMPRSS15

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMPRSS15: view

No data available for Genatlas for TMPRSS15 Gene

Publications for TMPRSS15 Gene

  1. Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. (PMID: 11719902) Holzinger A … Roscher AA (American journal of human genetics 2002) 3 4 22 72
  2. Enterokinase, the initiator of intestinal digestion, is a mosaic protease composed of a distinctive assortment of domains. (PMID: 8052624) Kitamoto Y … Sadler JE (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22
  3. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen. (PMID: 7718557) Kitamoto Y … Sadler JE (Biochemistry 1995) 3 4 22
  4. Crystal structure of a supercharged variant of the human enteropeptidase light chain. (PMID: 22488687) Simeonov P … Zuchner T (Proteins 2012) 3 4
  5. Keratinocytes synthesize enteropeptidase and multiple forms of trypsinogen during terminal differentiation. (PMID: 19924134) Nakanishi J … Hibino T (The Journal of investigative dermatology 2010) 3 22

Products for TMPRSS15 Gene

Sources for TMPRSS15 Gene