TMC1

TMC1
Identifiers
Aliases	TMC1, DFNA36, DFNB11, DFNB7, transmembrane channel like 1
External IDs	OMIM: 606706; MGI: 2151016; HomoloGene: 23670; GeneCards: TMC1; OMA:TMC1 - orthologs
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
	testicle; ; buccal mucosa cell; ; gonad; ; sural nerve; ; C1 segment; ; monocyte; ; right uterine tube; ; stromal cell of endometrium; ; anterior cingulate cortex; ; gastrocnemius muscle;
	Top expressed in
	spermatid; ; spermatocyte; ; Meckel's cartilage; ; utricle; ; sphenoid bone; ; gastrula; ; ciliary body; ; lesser wing of sphenoid bone; ; axial skeleton; ; basilar part of occipital bone;
	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; hearing; 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.^[5]^[6]^[7] 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),^[5] a family of proteins involved in the perception of senses such as temperature, taste, pressure, and vision.^[8] TMC1 has been located in the post-natal mouse cochlea,^[5] 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.^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165091 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024749 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (Mar 2002). "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function". Nat Genet. 30 (3): 277–84. doi:10.1038/ng842. PMID 11850618. S2CID 40110588.
^ Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP (2002). "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36". Nat Genet. 30 (3): 257–8. doi:10.1038/ng848. PMID 11850623. S2CID 26408685.
^ "Entrez Gene: TMC1 transmembrane channel-like 1".
^ Vriens J, Nilius B, Voets T (2014). "Peripheral thermosensation in mammals". Nature Reviews Neuroscience. 15 (9): 573–89. doi:10.1038/nrn3784. PMID 25053448. S2CID 27149948.
^ Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ (2011). "Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes". J. Clin. Invest. 121 (12): 4796–809. doi:10.1172/JCI60405. PMC 3223072. PMID 22105175.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165091 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024749 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Kurima_2002-5] Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (Mar 2002). "Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function". Nat Genet. 30 (3): 277–84. doi:10.1038/ng842. PMID 11850618. S2CID 40110588.

[Vreugde_2002-6] Vreugde S, Erven A, Kros CJ, Marcotti W, Fuchs H, Kurima K, Wilcox ER, Friedman TB, Griffith AJ, Balling R, Hrabé De Angelis M, Avraham KB, Steel KP (2002). "Beethoven, a mouse model for dominant, progressive hearing loss DFNA36". Nat Genet. 30 (3): 257–8. doi:10.1038/ng848. PMID 11850623. S2CID 26408685.

[entrez-7] "Entrez Gene: TMC1 transmembrane channel-like 1".

[8] Vriens J, Nilius B, Voets T (2014). "Peripheral thermosensation in mammals". Nature Reviews Neuroscience. 15 (9): 573–89. doi:10.1038/nrn3784. PMID 25053448. S2CID 27149948.

[pmid22105175-9] Kawashima Y, Géléoc GS, Kurima K, Labay V, Lelli A, Asai Y, Makishima T, Wu DK, Della Santina CC, Holt JR, Griffith AJ (2011). "Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes". J. Clin. Invest. 121 (12): 4796–809. doi:10.1172/JCI60405. PMC 3223072. PMID 22105175.

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