TMPRSS3 | ENSG00000160183 | NCBI 64699

Details for: TMPRSS3

Gene ID: 64699

Symbol: TMPRSS3

Ensembl ID: ENSG00000160183

Description: transmembrane serine protease 3

Associated with

Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Intracellular sodium ion homeostasis
(GO:0006883)
Membrane
(GO:0016020)
Neuronal cell body
(GO:0043025)
Proteolysis
(GO:0006508)
Sensory perception of sound
(GO:0007605)
Serine-type endopeptidase activity
(GO:0004252)
Sodium channel regulator activity
(GO:0017080)

Other Information

Proteins

Transmembrane protease serine 3

Genular Protein ID: 4060897081

Symbol: TMPS3_HUMAN

Name: Transmembrane protease serine 3

UniProtKB Accession Codes:

P57727 D3DSJ6 Q5USC7 Q6ZMC3

Database IDs:

Citations:

PubMed ID: 11068177

Title: Ovarian tumor cells express a novel multi-domain cell surface serine protease.

PubMed ID: 11068177

DOI: 10.1016/s0925-4439(00)00058-2

PubMed ID: 11137999

Title: Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.

PubMed ID: 11137999

DOI: 10.1038/83768

PubMed ID: 15447792

Title: Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PubMed ID: 15447792

DOI: 10.1186/1471-2350-5-24

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12393794

Title: The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

PubMed ID: 12393794

DOI: 10.1093/hmg/11.23.2829

PubMed ID: 11462234

Title: Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

PubMed ID: 11462234

DOI: 10.1002/humu.1159

PubMed ID: 11424922

Title: Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

PubMed ID: 11424922

DOI: 10.1136/jmg.38.6.396

PubMed ID: 11907649

Title: Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

PubMed ID: 11907649

DOI: 10.1007/s00109-001-0310-6

PubMed ID: 16021470

Title: A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

PubMed ID: 16021470

DOI: 10.1007/s00439-005-1332-x

Sequence Information:

Length: 454
Mass: 49405
Checksum: 57ECC3678F7D6AFF
Sequence:

MGENDPPAVE APFSFRSLFG LDDLKISPVA PDADAVAAQI LSLLPLKFFP IIVIGIIALI 
LALAIGLGIH FDCSGKYRCR SSFKCIELIA RCDGVSDCKD GEDEYRCVRV GGQNAVLQVF 
TAASWKTMCS DDWKGHYANV ACAQLGFPSY VSSDNLRVSS LEGQFREEFV SIDHLLPDDK 
VTALHHSVYV REGCASGHVV TLQCTACGHR RGYSSRIVGG NMSLLSQWPW QASLQFQGYH 
LCGGSVITPL WIITAAHCVY DLYLPKSWTI QVGLVSLLDN PAPSHLVEKI VYHSKYKPKR 
LGNDIALMKL AGPLTFNEMI QPVCLPNSEE NFPDGKVCWT SGWGATEDGA GDASPVLNHA 
AVPLISNKIC NHRDVYGGII SPSMLCAGYL TGGVDSCQGD SGGPLVCQER RLWKLVGATS 
FGIGCAEVNK PGVYTRVTSF LDWIHEQMER DLKT

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: TMPRSS3

Associated with

Other Information

Ovarian tumor cells express a novel multi-domain cell surface serine protease. PubMed ID: 11068177

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. PubMed ID: 11137999

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. PubMed ID: 15447792

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. PubMed ID: 12975309

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 21. PubMed ID: 10830953

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. PubMed ID: 12393794

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. PubMed ID: 11462234

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. PubMed ID: 11424922

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. PubMed ID: 11907649

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. PubMed ID: 16021470