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TMPRSS11A transmembrane serine protease 11A [ Homo sapiens (human) ]

Gene ID: 339967, updated on 10-Oct-2023

Summary

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Official Symbol
TMPRSS11Aprovided by HGNC
Official Full Name
transmembrane serine protease 11Aprovided by HGNC
Primary source
HGNC:HGNC:27954
See related
Ensembl:ENSG00000187054 MIM:611704; AllianceGenome:HGNC:27954
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
HESP; ECRG1; HATL1
Summary
Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward esophagus (RPKM 55.7) See more
Orthologs
all
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Genomic context

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See TMPRSS11A in Genome Data Viewer
Location:
4q13.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67909395..67963493, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71352520..71406589, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68775113..68829211, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724780 Neighboring gene transmembrane serine protease 11D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:68792700-68793200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:68793201-68793701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:68838367-68838888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:68838889-68839410 Neighboring gene transmembrane serine protease 11G, pseudogene Neighboring gene RNA, U6 small nuclear 95, pseudogene

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. Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease. Zhang C, et al. J Biol Chem, 2020 Sep 4. PMID 32675285, Free PMC Article
  2. Modification of risk, but not survival of esophageal cancer patients by esophageal cancer-related gene 1 Arg290Gln polymorphism: a case-control study and meta-analysis. Umar M, et al. J Gastroenterol Hepatol, 2013 Nov. PMID 23869757
  3. ECRG1 and its relationship with esophageal cancer: a brief review. Rasool S, et al. Onkologie, 2013. PMID 23548972
  4. The ECRG1 290Arg/Gln polymorphism is related to risk of esophageal squamous cell carcinoma in Kashmir. Rasool S, et al. Asian Pac J Cancer Prev, 2011. PMID 21517269
  5. Single nucleotide polymorphism in esophageal cancer related gene 1: an analysis in resected oral squamous cell carcinoma patients. Blessmann M, et al. Int J Oral Maxillofac Surg, 2009 Jul. PMID 19394797

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease.
    Title: Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease.
  2. show that TMPRSS11A, another member of the TTSP family, cleaves and activates the influenza A virus (FLUAV) HA and the Middle East respiratory syndrome coronavirus spike protein (MERS-S).
    Title: TMPRSS11A activates the influenza A virus hemagglutinin and the MERS coronavirus spike protein and is insensitive against blockade by HAI-1.
  3. ECRG1 Arg290Gln polymorphism significantly affects the susceptibility but not the prognosis of esophageal squamous cell carcinoma patients in low-risk north Indian population.
    Title: Modification of risk, but not survival of esophageal cancer patients by esophageal cancer-related gene 1 Arg290Gln polymorphism: a case-control study and meta-analysis.
  4. This suggests that substitution of the arginine in the conserved catalytic domain of the ECRG1 protein might reduce its catalytic capacity by impacting its 3-dimensional conformation, thereby causing the genetic susceptibility to ESCC. [review]
    Title: ECRG1 and its relationship with esophageal cancer: a brief review.
  5. Data show that the allele types of ECRG1 were Arg/Arg (54.2%), Arg/Gln (45.8%) and Gln/Gln (0.00%), and the allele types of FGFR4 amino acid 388 were Arg/Arg (8.3%), Arg/Gly (54.2%) and Gly/Gly (37.5%).
    Title: ECRG1 and FGFR4 single nucleotide polymorphism as predictive factors for nodal metastasis in oral squamous cell carcinoma.
  6. A statistically significantly increased risk of ESCC was found to be associated with the ECRG1 Arg/Gln and Gln/Gln genotype.
    Title: The ECRG1 290Arg/Gln polymorphism is related to risk of esophageal squamous cell carcinoma in Kashmir.
  7. Data show that ECRG4 interacts directly with ECRG1 to upregulate p21 protein expression, induce cell cycle G1 phase block and inhibit cancer cells proliferation in ESCC.
    Title: A novel tumor suppressor gene ECRG4 interacts directly with TMPRSS11A (ECRG1) to inhibit cancer cell growth in esophageal carcinoma.
  8. no significant association between single nucleotide polymorphisms Arg/Arg, Arg/Gln and Gln/Gln and survival in oral squamous cell carcinoma
    Title: Single nucleotide polymorphism in esophageal cancer related gene 1: an analysis in resected oral squamous cell carcinoma patients.
  9. DNA polymorphisms in the coding region of ECRG1 are associated with poor outcome after surgical resection in esophageal carcinoma.
    Title: Polymorphism Arg290Arg in esophageal-cancer-related gene 1 (ECRG1) is a prognostic factor for survival in esophageal cancer.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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

  • MGC133183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protease serine 11A
Names
airway trypsin-like protease 1
epidermal type-II transmembrane serine protease
esophageal cancer-susceptibility gene 1 protein
transmembrane protease, serine 11A

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_001114387.2 → NP_001107859.1  transmembrane protease serine 11A isoform 2

    See identical proteins and their annotated locations for NP_001107859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC096653, AC096727, AK292950, AY498712
    Consensus CDS
    CCDS47065.1
    UniProtKB/Swiss-Prot
    J3KNQ8, Q2NKI9, Q6JE90, Q6ZMR5, Q7RTY4, Q86TK8
    UniProtKB/TrEMBL
    A8KA85
    Related
    ENSP00000426911.2, ENST00000508048.6
    Conserved Domains (3) summary
    smart00020
    Location:186 → 412
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:187 → 415
    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:49 → 144
    SEA; SEA domain

  2. NM_182606.4 → NP_872412.3  transmembrane protease serine 11A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC096653, AC096727, AK131518, AK292950, AY498712
    Consensus CDS
    CCDS3519.1
    UniProtKB/Swiss-Prot
    J3KNQ8, Q2NKI9, Q6JE90, Q6ZMR5, Q7RTY4, Q86TK8
    UniProtKB/TrEMBL
    A0A0A0MR82, A8KA85
    Related
    ENSP00000334611.7, ENST00000334830.11
    Conserved Domains (3) summary
    smart00020
    Location:189 → 415
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:190 → 418
    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:49 → 147
    SEA; SEA domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    67909395..67963493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    71352520..71406589 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZMR5.2 GenPept UniProtKB/Swiss-Prot:Q6ZMR5

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