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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease.
Title: Intracellular autoactivation of TMPRSS11A, an airway epithelial transmembrane serine protease.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-67273 (e-PCR)
- UniSTS:68099

SHGC-143962 (e-PCR)
- UniSTS:172110

SHGC-50193 (e-PCR)
- UniSTS:35966

SHGC-16352 (e-PCR)
- UniSTS:70794

SHGC-77762 (e-PCR)
- UniSTS:95945

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 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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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_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
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/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