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TMPRSS3 transmembrane protease, serine 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001256317 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant F, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_024022 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_032404 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant C, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_032405 Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant D, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol TMPRSS3
Entrez Gene ID 64699
Full Name transmembrane protease, serine 3
Synonyms DFNB10, DFNB8, ECHOS1, TADG12
General protein information
Preferred Names
transmembrane protease serine 3
Names
transmembrane protease serine 3
serine protease TADG-12
tumor-associated differentially-expressed gene 12 protein
NP_001243246.1
NP_076927.1
NP_115780.1
NP_115781.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

21

21q22.3

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].
Disorder

MIM: 605511

Deafness, autosomal recessive 8, childhood onset, 601072 (3);

mRNA Protein Product Sequence Price Select
NM_001256317, 373251165 NP_001243246, 373251166 transmembrane protease serine 3 isoform 4 ORF Sequence $550.00
NM_024022, 224994254 NP_076927, 13173471 transmembrane protease serine 3 isoform 1 ORF Sequence $550.00
NM_032404, 373222560 NP_115780, 14602455 transmembrane protease serine 3 isoform 2 ORF Sequence $400.00
NM_032405, 14602456 NP_115781, 14602457 transmembrane protease serine 3 isoform 3 ORF Sequence $400.00
Homo sapiens (human)TMPRSS3NP_001243246.1
Pan troglodytes (chimpanzee)TMPRSS3XP_001137100.3
Macaca mulatta (Rhesus monkey)TMPRSS3XP_001105841.2
Canis lupus familiaris (dog)TMPRSS3XP_853682.3
Bos taurus (cattle)TMPRSS3NP_001179855.1
Mus musculus (house mouse)Tmprss3NP_001157248.1
Rattus norvegicus (Norway rat)Tmprss3NP_001101089.1
Gallus gallus (chicken)TMPRSS3XP_425558.3
Danio rerio (zebrafish)tmprss3aXP_001340422.5
Drosophila melanogaster (fruit fly)CG4613NP_648707.2
Drosophila melanogaster (fruit fly)CG3355NP_608848.1
Xenopus (Silurana) tropicalis (western clawed frog)tmprss3XP_002940514.2
Process
IDNameEvidence
GO:0006508proteolysisNAS
GO:0006883cellular sodium ion homeostasisIDA
GO:0006898receptor-mediated endocytosisIEA
GO:0007605sensory perception of soundIEA
Component
IDNameEvidence
GO:0005783endoplasmic reticulumIDA
GO:0005789endoplasmic reticulum membraneIDA
GO:0016021integral component of membraneNAS
GO:0043025neuronal cell bodyIEA
Function
IDNameEvidence
GO:0004252serine-type endopeptidase activityNAS
GO:0005044scavenger receptor activityIEA
GO:0017080sodium channel regulator activityIDA
GeneCards TMPRSS3
UniProt P57727
Vega OTTHUMG00000086796
MIM 605511
Ensembl ENSG00000160183
HGNC 11877
HPRD 05696

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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