Homo sapiens Gene: TMPRSS3
Summary
InnateDB Gene IDBG-4346.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMPRSS3
Gene Name transmembrane protease, serine 3
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000160183
Encoded Proteins
transmembrane protease, serine 3
transmembrane protease, serine 3
transmembrane protease, serine 3
transmembrane protease, serine 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:42371890-42396846
Strand Reverse strand
Band q22.3
Transcripts
ENST00000291532 ENSP00000291532
ENST00000398405 ENSP00000381442
ENST00000398397 ENSP00000381434
ENST00000433957 ENSP00000411013
ENST00000482761
ENST00000474596
ENST00000476848
ENST00000478680
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004252 serine-type endopeptidase activity
GO:0005044 scavenger receptor activity
GO:0005515 protein binding
GO:0017080 sodium channel regulator activity
GO:0070008 serine-type exopeptidase activity
Biological Process
GO:0006508 proteolysis
GO:0006883 cellular sodium ion homeostasis
GO:0006898 receptor-mediated endocytosis
GO:0007605 sensory perception of sound
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043025 neuronal cell body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.208600 Hs.623456
RefSeq NM_001256317 NM_024022 NM_032404 NM_032405
HUGO
OMIM
CCDS CCDS13686 CCDS42939 CCDS58790
HPRD 05696
IMGT
EMBL
GenPept
RNA Seq Atlas