TMPRSS11E
Transmembrane Serine Protease 11E
Gene Information Card
| Symbol | TMPRSS11E |
|---|---|
| Full Name | Transmembrane Serine Protease 11E |
| Gene Type | protein-coding |
| Chromosomal Location | 4q13.2 |
| NCBI Gene ID | 28983 ncbi.nlm.nih.gov/gene/28983 |
| Ensembl ID | ENSG00000138613 |
| UniProt ID | Q7Z5A9 |
| OMIM ID | 610296 |
| HGNC ID | 24060 |
| Aliases | DESC1, HATL5, TMPRSS11E1 |
Description
TMPRSS11E (Transmembrane Serine Protease 11E) is a protein-coding gene belonging to the type II transmembrane serine protease (TTSP) family. The encoded protein is involved in proteolytic processing of extracellular matrix components and activation of signaling pathways. It is expressed in epithelial tissues and has been implicated in cancer progression and viral entry processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Overexpression may promote tumor invasion via ECM degradation | PMID: 20628055 |
| Lung Cancer | Altered expression linked to poor prognosis | PMID: 23468904 |
| Viral Infection (Influenza) | Potential role in proteolytic activation of viral glycoproteins | PMID: 23601107 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 12.5 | Medium |
| Lung | 8.3 | Low |
| Skin | 6.1 | Low |
| Esophagus | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (Prostate) | 15.2 | Cancer cell line |
| A549 (Lung) | 9.8 | Cancer cell line |
| HaCaT (Keratinocyte) | 7.1 | Normal cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown functional effect |
| c.1456G>A (p.Gly486Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • integral component of membrane | • extracellular matrix disassembly |
Pathways
• Prostate cancer
• Extracellular matrix organization
• Influenza A
Protein Summary
TMPRSS11E encodes a 454-amino acid transmembrane serine protease with a short cytoplasmic domain, a transmembrane domain, and an extracellular serine protease domain. The protein is synthesized as a zymogen and activated by autocatalytic cleavage. It localizes to the cell membrane and is involved in pericellular proteolysis, potentially facilitating cell migration and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMPRSS11E Knockout HEK293 Cell Line | EDJ-KQ2674 | Human | 28983 | Details Get a Quote |
| TMPRSS11E Knockout HeLa Cell Line | EDJ-KQ56084 | Human | 28983 | Details Get a Quote |
| TMPRSS11E Knockout A-549 Cell Line | EDJ-KQ64569 | Human | 28983 | Details Get a Quote |
| TMPRSS11E Knockout HCT 116 Cell Line | EDJ-KQ73024 | Human | 28983 | Details Get a Quote |