TMC1
entrez
117531
canonical
uniprot
Q8TDI8
canonical
ensembl
ENSG00000165091
resolver
ensp
ENSP00000297784
resolver
ensp
ENSP00000341433
resolver
ensp
ENSP00000494684
resolver
enst
ENST00000297784
resolver
enst
ENST00000340019
resolver
enst
ENST00000645208
resolver
genesymbol
TMC1
resolver
hgnc
HGNC:16513
resolver
uniprot
A8MVZ2
resolver
uniprot
B1AM91
resolver
uniprot_entry
TMC1_HUMAN
resolver
uniprot_sec
A8MVZ2
resolver
uniprot_sec
B1AM91
resolver
amino_acid_sequence
MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRLKRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLPRKTVPRAEEASAANFGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANITLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWDLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGMLLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATAKGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705]: 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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. {ECO:0000269|PubMed:11850618, ECO:0000269|PubMed:25388789}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974]: 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:11850618}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (By similarity). The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15 (By similarity). MET channel is activated by tension in the tip-link extending from the side wall of one stereocilium to the tip of the adjacent shorter stereocilium, where the channel is located (By similarity). TMC1 MET channel is highly permeable to calcium and likely transports monovalent cations (By similarity). Also involved in vestibular hair cells transduction current (By similarity). {ECO:0000250|UniProtKB:Q8R4P5}.
uniprot
proteins
mass_dalton
87768
uniprot
proteins
protein_family
TMC family
uniprot
proteins
pubmed
11850618
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
25388789
uniprot
proteins
pubmed
30138589
uniprot
proteins
pubmed
34089643
uniprot
proteins
sequence_length
760
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8R4P5}; Multi-pass membrane protein {ECO:0000305}. Note=Localized to the stereocilia tips of the cochlear hair cells. {ECO:0000250|UniProtKB:Q8R4P5}.
uniprot
proteins
transmembrane_region
TRANSMEM 183..220; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 272..303; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 360..390; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 403..430; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 435..469; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 516..553; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 573..593; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 597..619; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 634..657; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3"; TRANSMEM 701..734; /note="Helical"; /evidence="ECO:0000250|UniProtKB:D3KZG3
uniprot
proteins