TMPRSS11E transmembrane serine protease 11E [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMPRSS11Eprovided by HGNC
Official Full Name: transmembrane serine protease 11Eprovided by HGNC
Primary source: HGNC:HGNC:24465
See related: Ensembl:ENSG00000087128 MIM:610399; AllianceGenome:HGNC:24465
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DESC1; TMPRSS11E2
Summary: Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be located in extracellular region and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward esophagus (RPKM 128.8) See more
Orthologs: all
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Genomic context

Location:: 4q13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (68447463..68497604)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71888583..71938685)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (69313181..69363322)

Chromosome 4 - NC_000004.12 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?

Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression.
Title: Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression.
DESC1 may suppress esophageal squamous cell carcinoma development by sensitizing cells to apoptosis under an apoptotic stimulus through downregulating the EGFR/AKT signaling pathway.
Title: DESC1, a novel tumor suppressor, sensitizes cells to apoptosis by downregulating the EGFR/AKT pathway in esophageal squamous cell carcinoma.
study demonstrates that two cellular serine proteases, DESC1 and MSPL, activate influenza viruses and emerging coronaviruses in cell culture and, because of their expression in human lung tissue, might promote viral spread in the infected host
Title: DESC1 and MSPL activate influenza A viruses and emerging coronaviruses for host cell entry.
The domain of DESC1 exhibits a trypsin-like serine proteinase fold with a thrombin-like S1 pocket, a urokinase-type plasminogen activator-type S2 pocket, to accept small residues, and an open hydrophobic S3/S4 cavity to accept large hydrophobic residues.
Title: Crystal structure of the catalytic domain of DESC1, a new member of the type II transmembrane serine proteinase family.

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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

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

DESC1_4696 (e-PCR)
- UniSTS:462863

NoName (e-PCR)
- UniSTS:485824

SHGC-81237 (e-PCR)
- UniSTS:102372

Clone Names

FLJ75331, FLJ94490, MGC141972, MGC141974

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
enables serine-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane protease serine 11E

Names: serine protease DESC1; transmembrane protease serine 11E2; transmembrane protease, serine 11E

NP_054777.2

EC 3.4.21.-

XP_011530198.1

EC 3.4.21.-

XP_047306095.1

EC 3.4.21.-

XP_054184516.1

EC 3.4.21.-

XP_054184517.1

EC 3.4.21.-

XP_054205809.1

EC 3.4.21.-

XP_054205810.1

EC 3.4.21.-

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.

mRNA and Protein(s)

NM_014058.4 → NP_054777.2 transmembrane protease serine 11E precursor

See identical proteins and their annotated locations for NP_054777.2

Status: VALIDATED

Source sequence(s)

AC079749, AY359017, DB013544

Consensus CDS

CCDS33993.1

UniProtKB/Swiss-Prot

A6NL71, Q14DC8, Q6UW31, Q9UL52

UniProtKB/TrEMBL

A0A0G2JNI0, A8K9S2

Related

ENSP00000307519.4, ENST00000305363.9

Conserved Domains (2) summary

cd00190
Location:192 → 420

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 ...

pfam01390
Location:51 → 156

SEA; SEA domain

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

68447463..68497604

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531896.3 → XP_011530198.1 transmembrane protease serine 11E isoform X1

UniProtKB/TrEMBL

Q4W5P3

Conserved Domains (3) summary

smart00020
Location:113 → 339

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:114 → 342

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 ...

pfam01390
Location:1 → 68

SEA; SEA domain
XM_047450139.1 → XP_047306095.1 transmembrane protease serine 11E isoform X1