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

Summary

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
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Genomic context

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Engineered recombinant enteropeptidase catalytic subunit: effect of N-terminal modification
Title: Engineered recombinant enteropeptidase catalytic subunit: effect of N-terminal modification.

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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	Compare labs

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D21S1433 (e-PCR)
- UniSTS:49435

D21S1821 (e-PCR)
- UniSTS:32834

G48503 (e-PCR)
- UniSTS:95563

RH17989 (e-PCR)
- UniSTS:87154

PRSS7_3848 (e-PCR)
- UniSTS:462466

SHGC-132769 (e-PCR)
- UniSTS:170883

RH120391 (e-PCR)
- UniSTS:132534

G34555 (e-PCR)
- UniSTS:20163

SHGC-6928 (e-PCR)
- UniSTS:92641

D21S406 (e-PCR)
- UniSTS:148215

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

EC 3.4.21.9

NP_001414986.1

EC 3.4.21.9

NP_002763.3

EC 3.4.21.9

XP_011527957.1

EC 3.4.21.9

XP_011527958.1

EC 3.4.21.9

XP_011527960.1

EC 3.4.21.9

XP_047296868.1

EC 3.4.21.9

XP_047296869.1

EC 3.4.21.9

XP_054180668.1

EC 3.4.21.9

XP_054180669.1

EC 3.4.21.9

XP_054180670.1

EC 3.4.21.9

XP_054180671.1

EC 3.4.21.9

XP_054180672.1

EC 3.4.21.9

XP_054180673.1

EC 3.4.21.9

XP_054180675.1

EC 3.4.21.9

XP_054180676.1

EC 3.4.21.9

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

NG_012207.2 RefSeqGene

Range

61891..196560

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001428056.1 → NP_001414985.1 enteropeptidase isoform 1

Status: REVIEWED

Source sequence(s)

AL078474, AL109763, AP000455, AP000456
NM_001428057.1 → NP_001414986.1 enteropeptidase isoform 2

Status: REVIEWED

Source sequence(s)

AL078474, AL109763, AP000455, AP000456

UniProtKB/Swiss-Prot

P98073, Q2NKL7
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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

18269116..18485884 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440913.1 → XP_047296869.1 enteropeptidase isoform X3

UniProtKB/Swiss-Prot

P98073, Q2NKL7
XM_047440912.1 → XP_047296868.1 enteropeptidase isoform X1
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
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
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