TMC1

TMC1
Identifiers
Aliases	TMC1, DFNA36, DFNB11, DFNB7, transmembrane channel like 1
External IDs	OMIM: 606706 MGI: 2151016 HomoloGene: 23670 GeneCards: TMC1
Gene location (Human)
Chr.	Chromosome 9 (human)
End	72,838,297 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	20,931,566 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; monocyte; ; right uterine tube; ; stromal cell of endometrium; ; gastrocnemius muscle; ; testicle; ; amygdala; ; urinary bladder; ; nucleus accumbens; ; substantia nigra;
	Top expressed in
	spermatid; ; spermatocyte; ; Meckel's cartilage; ; utricle; ; sphenoid bone; ; ciliary body; ; lesser wing of sphenoid bone; ; axial skeleton; ; basilar part of occipital bone; ; rib;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	voltage-gated calcium channel activity; mechanosensitive ion channel activity; ion channel activity;
Cellular component	integral component of membrane; stereocilium tip; membrane; external side of plasma membrane; plasma membrane; integral component of plasma membrane;
Biological process	vestibular reflex; auditory receptor cell development; ion transport; sensory perception of sound; calcium ion transmembrane transport; detection of mechanical stimulus involved in sensory perception of sound; regulation of calcium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	117531
	13409
	ENSG00000165091
	ENSMUSG00000024749
	Q8TDI8
	Q8R4P5
	NM_138691
	NM_028953
	NP_619636
	NP_083229
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane channel-like protein 1 is a protein that in humans is encoded by the TMC1 gene. TMC1 contains six transmembrane domains with both the C and N termini on the endoplasmic side of the membrane, as well as a large loop between domains 4 and 5. This topology is similar to that of transient receptor potential channels (TRPs), a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision. TMC1 has been located in the post-natal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits (hearing loss and balance issues) indicating TMC1 is a molecular part of auditory transduction.

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