TMPRSS11D transmembrane serine protease 11D [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMPRSS11Dprovided by HGNC
Official Full Name: transmembrane serine protease 11Dprovided by HGNC
Primary source: HGNC:HGNC:24059
See related: Ensembl:ENSG00000153802 MIM:605369; AllianceGenome:HGNC:24059
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: ASP; HAT
Summary: This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Expression: Restricted expression toward esophagus (RPKM 30.2) See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (67820876..67884002, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71264020..71327118, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (68686594..68749720, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment.
Title: TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment.
HalphaT is associated with increased risk for severe Hymenoptera venom-triggered anaphylaxis.
Title: HαT is associated with increased risk for severe Hymenoptera venom-triggered anaphylaxis.
TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein.
Title: TMPRSS11D and TMPRSS13 Activate the SARS-CoV-2 Spike Protein.
results indicate that HAT stimulates IL-8 synthesis in airway epithelial cells via PAR2 and could help to amplify inflammation in chronic respiratory tract disease
Title: Human airway trypsin-like protease enhances interleukin-8 synthesis in bronchial epithelial cells by activating protease-activated receptor 2.
serine proteases transmembrane protein serine 11D and kallikrein-related peptidase 13 were shown as active proteases in Cervical-vaginal fluid.
Title: Functional proteomic profiling reveals KLK13 and TMPRSS11D as active proteases in the lower female reproductive tract.
HAT concentration in saliva was measured by ELISA, and immunoreactive HAT:total protein ratio (ng/mg) in saliva samples from healthy subjects was similar to that in mucoid sputum. RT-PCR showed that HAT mRNA was expressed in gingival epithelial cells but not in gingival fibroblasts.
Title: Human airway trypsin-like protease (HAT) is released into saliva.
High HAT expression is associated with Idiopathic pulmonary fibrosis.
Title: Human airway trypsin-like protease exerts potent, antifibrotic action in pulmonary fibrosis.
we conclude that TMPRSS11D could play a role in non-small cell lung cancer development and progression
Title: High TMPRSS11D protein expression predicts poor overall survival in non-small cell lung cancer.
HAT expression may potentially be useful as a marker for clinical grading and assessment of patient prognosis in squamous cell carcinomas
Title: Cell Surface Human Airway Trypsin-Like Protease Is Lost During Squamous Cell Carcinogenesis.
H9N2 viruses with R-S-S-R or R-S-R-R cleavage sites in hemagglutinin are activated by matriptase in addition to HAT and TMPRSS2 and, therefore, can be activated in a wide range of tissues what may affect virus spread, tissue tropism and pathogenicity.
Title: Matriptase, HAT, and TMPRSS2 activate the hemagglutinin of H9N2 influenza A viruses.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables peptidase activity	TAS Traceable Author Statement more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory gaseous exchange by respiratory system	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protease serine 11D

Names: adrenal secretory serine protease; airway trypsin-like protease; transmembrane protease, serine 11D

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_004262.3 → NP_004253.1 transmembrane protease serine 11D

See identical proteins and their annotated locations for NP_004253.1

Status: REVIEWED

Source sequence(s)

AB002134, AC096653, AK094054, AL603214, BC033295

Consensus CDS

CCDS3518.1

UniProtKB/Swiss-Prot

O60235, Q08AF6

UniProtKB/TrEMBL

A8K2M4

Related

ENSP00000283916.6, ENST00000283916.11

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:48 → 143

SEA; SEA domain