Tmc1 - transmembrane channel-like gene family 1 Gene

Also Known as dn; Bth; CWEA1; TMC1ex1; Beethoven; 4933416G09Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 13409

Summary

Enables voltage-gated Calcium Channel activity. Contributes to mechanosensitive ion channel activity. Acts upstream of or within several processes, including auditory receptor cell development; detection of mechanical stimulus involved in sensory perception of sound; and vestibular reflex. Located in external side of plasma membrane and stereocilium tip. Is expressed in sensory organ and skeleton. Used to study autosomal dominant nonsyndromic deafness 36 and autosomal recessive nonsyndromic deafness 7. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 36; autosomal recessive nonsyndromic deafness 7; and sensorineural hearing loss. Orthologous to human TMC1 (transmembrane channel like 1). [provided by Alliance of Genome Resources, Apr 2022]

Tmc1 Products (1)

mRNA	Protein	Name
NM_028953.2	NP_083229.1	transmembrane channel-like protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium channel activity	IMP IMP: Inferred from mutant phenotype	23871232	MGI
contributes to mechanosensitive monoatomic ion channel activity	IGI IGI: Inferred from genetic interaction	24981230	MGI
contributes to mechanosensitive monoatomic ion channel activity	IMP IMP: Inferred from mutant phenotype	24981230	MGI
enables mechanosensitive monoatomic ion channel activity	IMP IMP: Inferred from mutant phenotype	23871232	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	25114259	MGI
enables voltage-gated calcium channel activity	IGI IGI: Inferred from genetic interaction	23871232	MGI
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	23871232	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within auditory receptor cell development	IMP IMP: Inferred from mutant phenotype	22105175	MGI
acts upstream of or within calcium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	23871232	MGI
acts upstream of or within calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	23871232	MGI
acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound	IGI IGI: Inferred from genetic interaction	22105175	MGI
acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	22105175	MGI
acts upstream of or within regulation of calcium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	24981230	MGI
acts upstream of or within regulation of calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24981230	MGI
acts upstream of or within vestibular reflex	IGI IGI: Inferred from genetic interaction	22105175	MGI
acts upstream of or within vestibular reflex	IMP IMP: Inferred from mutant phenotype	24981230	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in external side of plasma membrane	IDA IDA: Inferred from direct assay	16455951	MGI
located in stereocilium	IDA IDA: Inferred from direct assay	38228630	MGI
located in stereocilium tip	IDA IDA: Inferred from direct assay	22105175	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
transmembrane channel-like protein 1	deafness protein transmembrane cochlear-expressed protein 1 transmembrane, cochlear expressed 1

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14621	TMC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21445	Tmc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27963	Tmc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Tmc1	NCBI	NCBI:117531