TMPRSS3
entrez
64699
canonical
uniprot
P57727
canonical
ensembl
ENSG00000160183
resolver
ensp
ENSP00000381434
resolver
ensp
ENSP00000411013
resolver
ensp
ENSP00000494414
resolver
genesymbol
TMPRSS3
resolver
genesymbol_syn
ECHOS1
resolver
genesymbol_syn
TADG12
resolver
hgnc
HGNC:11877
resolver
uniprot
D3DSJ6
resolver
uniprot
Q5USC7
resolver
uniprot
Q6ZMC3
resolver
uniprot_entry
TMPS3_HUMAN
resolver
uniprot_sec
D3DSJ6
resolver
uniprot_sec
Q5USC7
resolver
uniprot_sec
Q6ZMC3
resolver
amino_acid_sequence
MGENDPPAVEAPFSFRSLFGLDDLKISPVAPDADAVAAQILSLLPLKFFPIIVIGIIALILALAIGLGIHFDCSGKYRCRSSFKCIELIARCDGVSDCKDGEDEYRCVRVGGQNAVLQVFTAASWKTMCSDDWKGHYANVACAQLGFPSYVSSDNLRVSSLEGQFREEFVSIDHLLPDDKVTALHHSVYVREGCASGHVVTLQCTACGHRRGYSSRIVGGNMSLLSQWPWQASLQFQGYHLCGGSVITPLWIITAAHCVYDLYLPKSWTIQVGLVSLLDNPAPSHLVEKIVYHSKYKPKRLGNDIALMKLAGPLTFNEMIQPVCLPNSEENFPDGKVCWTSGWGATEDGAGDASPVLNHAAVPLISNKICNHRDVYGGIISPSMLCAGYLTGGVDSCQGDSGGPLVCQERRLWKLVGATSFGIGCAEVNKPGVYTRVTSFLDWIHEQMERDLKT
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:11424922, ECO:0000269|PubMed:11462234, ECO:0000269|PubMed:11907649, ECO:0000269|PubMed:12393794, ECO:0000269|PubMed:15447792, ECO:0000269|PubMed:16021470}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.-
uniprot
proteins
function
FUNCTION: Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell 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:0000269|PubMed:12393794}.
uniprot
proteins
mass_dalton
49405
uniprot
proteins
mutagenesis
MUTAGEN 401; /note="S->A: Fails to undergo proteolytic cleavage and is unable to activate ENaC."; /evidence="ECO:0000269|PubMed:12393794
uniprot
proteins
post_translational_modification
PTM: Undergoes autoproteolytic activation.
uniprot
proteins
protein_family
Peptidase S1 family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11068177
uniprot
proteins
pubmed
11137999
uniprot
proteins
pubmed
11424922
uniprot
proteins
pubmed
11462234
uniprot
proteins
pubmed
11907649
uniprot
proteins
pubmed
12393794
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15447792
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16021470
uniprot
proteins
sequence_length
454
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12393794}; Single-pass type II membrane protein {ECO:0000269|PubMed:12393794}.
uniprot
proteins
transmembrane_region
TRANSMEM 49..69; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins