Sequence in raw or FASTA format:
TMPRSS3 transmembrane protease, serine 3 [Homo sapiens (human)]
|Entrez Gene ID||64699|
|Full Name||transmembrane protease, serine 3|
|Synonyms||DFNB10, DFNB8, ECHOS1, TADG12|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Deafness, autosomal recessive 8, childhood onset, 601072 (3);
|Homo sapiens (human)||TMPRSS3||NP_001243246.1|
|Pan troglodytes (chimpanzee)||TMPRSS3||XP_001137100.3|
|Macaca mulatta (Rhesus monkey)||TMPRSS3||XP_001105841.2|
|Canis lupus familiaris (dog)||TMPRSS3||XP_853682.3|
|Bos taurus (cattle)||TMPRSS3||NP_001179855.1|
|Mus musculus (house mouse)||Tmprss3||NP_001157248.1|
|Rattus norvegicus (Norway rat)||Tmprss3||NP_001101089.1|
|Gallus gallus (chicken)||TMPRSS3||XP_425558.3|
|Danio rerio (zebrafish)||tmprss3a||XP_001340422.5|
|Drosophila melanogaster (fruit fly)||CG4613||NP_648707.2|
|Drosophila melanogaster (fruit fly)||CG3355||NP_608848.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||tmprss3||XP_002940514.2|
|GO:0006883||cellular sodium ion homeostasis||IDA|
|GO:0007605||sensory perception of sound||IEA|
|GO:0005789||endoplasmic reticulum membrane||IDA|
|GO:0016021||integral component of membrane||NAS|
|GO:0043025||neuronal cell body||IEA|
|GO:0004252||serine-type endopeptidase activity||NAS|
|GO:0005044||scavenger receptor activity||IEA|
|GO:0017080||sodium channel regulator activity||IDA|
What is the normal function of the TMPRSS3 gene?
The TMPRSS3 gene provides instructions for making a protein that is part of a large protein family called serine proteases. Serine proteases are enzymes that are involved in many normal biological functions, including digestion, blood clotting, and inflammation. These enzymes have an active center that cuts apart (cleaves) other proteins into smaller pieces. They are called serine proteases because the active center contains a molecule called serine. Serine is a type of amino acid, which is a building block found in many proteins.
The exact function of the protein made by the TMPRSS3 gene is unknown, but it appears to be essential for normal hearing. The protein likely plays a role in the development and maintenance of the inner ear, and is also present in many other tissues. Researchers believe that the TMPRSS3 protein activates a protein called the epithelial amiloride sensitive sodium channel (ENaC), which probably controls important chemical signaling pathways in the inner ear.
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