TMPRSS11B transmembrane serine protease 11B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMPRSS11Bprovided by HGNC
Official Full Name: transmembrane serine protease 11Bprovided by HGNC
Primary source: HGNC:HGNC:25398
See related: Ensembl:ENSG00000185873 AllianceGenome:HGNC:25398
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: HATL5
Summary: Enables serine-type peptidase activity. Predicted to be involved in proteolysis. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward esophagus (RPKM 184.2) 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 (68226653..68245694, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71666935..71685995, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (69092371..69111412, 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?

These findings establish an oncogenic role for TMPRSS11B and provide support for the development of therapies that target this enzyme at the surface of cancer cells.
Title: Transmembrane Protease TMPRSS11B Promotes Lung Cancer Growth by Enhancing Lactate Export and Glycolytic Metabolism.
Data indicate that TMPRSS11b (BC126195), encoding human airway trypsin-like protease 5 (HATL5), is localized on the cell surface of differentiated epithelial cells in the stratified squamous epithelia of cervix, esophagus, and oral cavity.
Title: HATL5: a cell surface serine protease differentially expressed in epithelial cancers.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene variants associated with ischemic stroke: the cardiovascular health study.

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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

D4S2616 (e-PCR)
- UniSTS:36631

NoName (e-PCR)
- UniSTS:488034

D4S2387 (e-PCR)
- UniSTS:41865

D4S2391 (e-PCR)
- UniSTS:29918

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables serine-type peptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane protease serine 11B

Names: airway trypsin-like protease 5; transmembrane protease, serine 11B

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_182502.3 → NP_872308.2 transmembrane protease serine 11B

See identical proteins and their annotated locations for NP_872308.2

Status: VALIDATED

Source sequence(s)

AC098799, AK290904

Consensus CDS

CCDS3521.1

UniProtKB/Swiss-Prot

A8K4D9, Q86T26

Related

ENSP00000330475.5, ENST00000332644.6

Conserved Domains (3) summary

smart00020
Location:184 → 410

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:185 → 413

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:45 → 143

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

68226653..68245694 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011531608.3 → XP_011529910.1 transmembrane protease serine 11B isoform X1

See identical proteins and their annotated locations for XP_011529910.1

UniProtKB/Swiss-Prot

A8K4D9, Q86T26

Conserved Domains (3) summary

smart00020
Location:184 → 410

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:185 → 413

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:45 → 143

SEA; SEA domain
XM_011531609.1 → XP_011529911.1 transmembrane protease serine 11B isoform X2

Conserved Domains (2) summary

pfam01390
Location:45 → 143

SEA; SEA domain

cl21584
Location:185 → 227

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 ...