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

Gene ID: 28983, updated on 2-Nov-2024

Summary

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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

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See TMPRSS11E in Genome Data Viewer
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_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:69254602-69255158 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69255159-69255714 Neighboring gene metallothionein 2 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69269799-69270498 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69271199-69271898 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69271899-69272598 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69272599-69273298 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:69273299-69273996 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:69275704-69276462 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:69317044-69317627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:69317628-69318210 Neighboring gene UDP glucuronosyltransferase family 2 member B29, pseudogene Neighboring gene UDP glucuronosyltransferase family 2 member B17

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 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. Elevated expression of the membrane-anchored serine protease TMPRSS11E in NSCLC progression. Li S, et al. Carcinogenesis, 2022 Dec 25. PMID 35951670
  2. Differential expression of a novel serine protease homologue in squamous cell carcinoma of the head and neck. Lang JC, et al. Br J Cancer, 2001 Jan. PMID 11161383, Free PMC Article
  3. DESC1, a novel tumor suppressor, sensitizes cells to apoptosis by downregulating the EGFR/AKT pathway in esophageal squamous cell carcinoma. Ng HY, et al. Int J Cancer, 2016 Jun 15. PMID 26856390
  4. Crystal structure of the catalytic domain of DESC1, a new member of the type II transmembrane serine proteinase family. Kyrieleis OJ, et al. FEBS J, 2007 Apr. PMID 17388811
  5. DESC1 and MSPL activate influenza A viruses and emerging coronaviruses for host cell entry. Zmora P, et al. J Virol, 2014 Oct. PMID 25122802, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
XP_011530198.1
XP_047306095.1
XP_054184516.1
XP_054184517.1
XP_054205809.1
XP_054205810.1

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.

mRNA and Protein(s)

  1. 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

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    68447463..68497604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. XM_047450139.1 → XP_047306095.1  transmembrane protease serine 11E isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_167250.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    141154..191291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328542.1 → XP_054184517.1  transmembrane protease serine 11E isoform X1

  2. XM_054328541.1 → XP_054184516.1  transmembrane protease serine 11E isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    71888583..71938685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349835.1 → XP_054205810.1  transmembrane protease serine 11E isoform X1

  2. XM_054349834.1 → XP_054205809.1  transmembrane protease serine 11E isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UL52.2 GenPept UniProtKB/Swiss-Prot:Q9UL52

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