| Gene Summary for PRT329N1 |
|---|
| Functional Category: |
enzyme-protease |
| Cell Location: |
endoplasmic reticulum |
| OST/GST: |
|
| Original Accession #: |
IPI00027977 |
| Mouse Nucleotide Accession #: |
NM_080727 |
| Human Nucleotide Accession #: |
NM_024022 |
|
|
| Summary: |
| No summary available. |
|
| Mouse Gene Sequence Information |
|---|
 |
Nucleotide Reference: |
NM_080727 ACCESSION:NM_080727 NID:18141558 Mus musculus Mus musculus transmembrane protease, serine 3 (Tmprss3), mRNA. mouse_refseq |
|
Protein Reference: |
Q8VDE0 ACCESSION:Q8VDE0 NID: Mus musculus (Mouse). TMPRSS3 PROTEIN. MOUSESPTRNRDB |
|
Entrez Gene: |
140765 |
| Human Gene Sequence Information |
|---|
|
Nucleotide Reference: |
NM_024022 ACCESSION:NM_024022 NID:13173470 Homo sapiens Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. hs_refseq |
|
Protein Reference: |
P57727 ACCESSION:P57727 NID: Homo sapiens (Human). TRANSMEMBRANE PROTEASE, SERINE 3 (EC 3.4.21.-) (SERINE PROTEASE TADG-12) (TUMOR ASSOCIATED DIFFERENTIALLY-EXPRESSED GENE-12 PROTEIN). HUMANSPTRNRDB |
|
Entrez Gene: |
64699 |
| Bibliographic References |
|---|
| Title |
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |
| Author[s] |
Clark Hilary F, Gurney Austin L, Abaya Evangeline, Baker Kevin, Baldwin Daryl, Brush Jennifer, Chen Jian, Chow Bernard, Chui Clarissa, Crowley Craig, Currell Bridget, Deuel Bethanne, Dowd Patrick, Eaton Dan, Foster Jessica, Grimaldi Christopher, Gu Qimin, Hass Philip E, Heldens Sherry, Huang Arthur, Kim Hok Seon, Klimowski Laura, Jin Yisheng, Johnson Stephanie, Lee James, Lewis Lhney, Liao Dongzhou, Mark Melanie, Robbie Edward, Sanchez Celina, Schoenfeld Jill, Seshagiri Somasekar, Simmons Laura, Singh Jennifer, Smith Victoria, Stinson Jeremy, Vagts Alicia, Vandlen Richard, Watanabe Colin, Wieand David, Woods Kathryn, Xie Ming-Hong, Yansura Daniel, Yi Sothy, Yu Guoying, Yuan Jean, Zhang Min, Zhang Zemin, Goddard Audrey, Wood William I, Godowski Paul, Gray Alane |
| Journal |
Genome Res. 10/01/2003; 13:2265-70 |
|
| Title |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. |
| Author[s] |
Ahmed Zubair M, Li Xiaoyan Cindy, Powell Shontell D, Riazuddin Saima, Young Terry-Lynn, Ramzan Khushnooda, Ahmad Zahoor, Luscombe Sandra, Dhillon Kiran, MacLaren Linda, Ploplis Barbara, Shotland Lawrence I, Ives Elizabeth, Riazuddin Sheikh, Friedman Thomas B, Morell Robert J, Wilcox Edward R |
| Journal |
BMC Med Genet. 09/24/2004; 5:24 |
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|
| Title |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. |
| Author[s] |
Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, Scamuffa N, Guida E, Okui M, Rossier C, Hancock M, Buchet K, Reymond A, Hummler E, Marzella PL, Kudoh J, Shimizu N, Scott HS, Antonarakis SE, Rossier BC |
| Journal |
Hum Mol Genet. 11-1-2002; 11:2829-36 |
|
| Title |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. |
| Author[s] |
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE |
| Journal |
J Mol Med. 02-2002; 80:124-31 |
|
|
| Mutation Information |
|---|
| Mutation Type: |
Homologous Recombination (standard) |
| Description: |
Coding exon 1 was targeted (NCBI accession NM_080727.1). |
|
