TMC1

Chr 9q21.13

transmembrane channel like 1

MANE:: ENST00000297784.10

OMIM: 606706 ↗NCBI: 117531 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TMC1 · Q8TDI8

v62025-08-01

Predicted Aligned Error matrix for TMC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.9/ 100

Confident

760 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)67%
Low(50–70)11%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive nonsyndromic hearing loss 7
0.75
autosomal dominant nonsyndromic hearing loss 36
0.72
deafness
0.68
hearing loss, autosomal recessive
0.68
nonsyndromic genetic hearing loss
0.63
autosomal dominant nonsyndromic hearing loss
0.57
Rare genetic deafness
0.55
Hearing impairment
0.47
Sensorineural hearing impairment
0.40
hearing loss disorder
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transmembrane channel-like protein 1

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)