Homo sapiens Protein: TMPRSS3 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-4350.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | TMPRSS3 | ||||||||||||||||||
Protein Name | transmembrane protease, serine 3 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000291532 | ||||||||||||||||||
InnateDB Gene | IDBG-4346 (TMPRSS3) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro). {ECO:0000250, ECO:0000269PubMed:12393794}. | ||||||||||||||||||
Subcellular Localization | Endoplasmic reticulum membrane {ECO:0000269PubMed:12393794}; Single-pass type II membrane protein {ECO:0000269PubMed:12393794}. | ||||||||||||||||||
Disease Associations | Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR001190
SRCR domain IPR001254 Peptidase S1 IPR001314 Peptidase S1A, chymotrypsin-type IPR002172 Low-density lipoprotein (LDL) receptor class A repeat IPR009003 Trypsin-like cysteine/serine peptidase domain IPR015420 Peptidase S1A, nudel IPR017448 SRCR-like domain |
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PFAM |
PF00530
PF00089 PF00057 PF09342 |
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PRINTS |
PR00258
PR00722 PR00261 |
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PIRSF | |||||||||||||||||||
SMART |
SM00020
SM00192 SM00202 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P57727 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P57727 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 64699 | ||||||||||||||||||
UniGene | Hs.623456 | ||||||||||||||||||
RefSeq | NP_115780 | ||||||||||||||||||
HUGO | HGNC:11877 | ||||||||||||||||||
OMIM | 605511 | ||||||||||||||||||
CCDS | CCDS13686 | ||||||||||||||||||
HPRD | 05696 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB038157 AB038158 AB038159 AB038160 AF201380 AK172842 AP001623 AY358458 AY633572 BC074846 BC074847 CH471079 | ||||||||||||||||||
GenPept | AAG37012 AAH74846 AAH74847 AAQ88823 AAT66641 BAB20077 BAB20078 BAB20079 BAB20080 BAD18806 EAX09564 EAX09566 | ||||||||||||||||||