Tmc1 transmembrane channel-like gene family 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tmc1provided by MGI
Official Full Name: transmembrane channel-like gene family 1provided by MGI
Primary source: MGI:MGI:2151016
See related: Ensembl:ENSMUSG00000024749 AllianceGenome:MGI:2151016
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dn; Bth; CWEA1; TMC1ex1; Beethoven; 4933416G09Rik
Summary: Enables mechanosensitive monoatomic ion channel activity and voltage-gated calcium 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, Nov 2024]
Expression: Biased expression in testis adult (RPKM 1.8), colon adult (RPKM 0.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 19 B; 19 13.98 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (20760820..20931566, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (20783456..21037126, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The cytosolic N-terminal region of heterologously-expressed transmembrane channel-like protein 1 (TMC1) can be cleaved in HEK293 cells.
Title: The cytosolic N-terminal region of heterologously-expressed transmembrane channel-like protein 1 (TMC1) can be cleaved in HEK293 cells.
The conductance and organization of the TMC1-containing mechanotransducer channel complex in auditory hair cells.
Title: The conductance and organization of the TMC1-containing mechanotransducer channel complex in auditory hair cells.
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Title: New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
Title: Alternative Splicing of Three Genes Encoding Mechanotransduction-Complex Proteins in Auditory Hair Cells.
A Mechanosensitive Channel, Mouse Transmembrane Channel-Like Protein 1 (Mtmc1) Is Translated from a Splice Variant mTmc1ex1 but Not from the Other Variant mTmc1ex2.
Title: A Mechanosensitive Channel, Mouse Transmembrane Channel-Like Protein 1 (Mtmc1) Is Translated from a Splice Variant mTmc1ex1 but Not from the Other Variant mTmc1ex2.
An uncharacterized region within the N-terminus of mouse TMC1 precludes trafficking to plasma membrane in a heterologous cell line.
Title: An uncharacterized region within the N-terminus of mouse TMC1 precludes trafficking to plasma membrane in a heterologous cell line.
The contribution of TMC1 to adaptation of mechanoelectrical transduction channels in cochlear outer hair cells.
Title: The contribution of TMC1 to adaptation of mechanoelectrical transduction channels in cochlear outer hair cells.
Ultrastructural localization of the likely mechanoelectrical transduction channel protein, transmembrane-like channel 1 (TMC1) during development of cochlear hair cells.
Title: Ultrastructural localization of the likely mechanoelectrical transduction channel protein, transmembrane-like channel 1 (TMC1) during development of cochlear hair cells.
TMC1 p.D569N Is Associated with outer hair cells Loss and Deafness.
Title: A Tmc1 mutation reduces calcium permeability and expression of mechanoelectrical transduction channels in cochlear hair cells.
Study in transgenic mouse line in which Tmc2 cDNA is expressed under the control of the Tmc1 promoter revealed distinct roles and requirements for Tmc1 and Tmc2 in mature cochlear hair cells.
Title: Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (9) 1 citation
Spontaneous (1)
Targeted (1) 1 citation

General gene information

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Markers

AW210586 (e-PCR)
- UniSTS:180858

Tmc1 (e-PCR), detects polymorphism
- UniSTS:548027

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to mechanosensitive monoatomic ion channel activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to mechanosensitive monoatomic ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables mechanosensitive monoatomic ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated calcium channel activity	IGI Inferred from Genetic Interaction more info	PubMed
enables voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within auditory receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within calcium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of mechanical stimulus involved in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of calcium ion transmembrane transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info
involved_in vestibular reflex	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vestibular reflex	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vestibular reflex	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transmembrane channel-like protein 1

Names: deafness protein; transmembrane cochlear-expressed protein 1; transmembrane, cochlear expressed 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_028953.2 → NP_083229.1 transmembrane channel-like protein 1

See identical proteins and their annotated locations for NP_083229.1

Status: VALIDATED

Source sequence(s)

AC102790, AC162458

Consensus CDS

CCDS50403.1

UniProtKB/Swiss-Prot

Q7TQB2, Q8R4P5, Q9D435

UniProtKB/TrEMBL

A0A6S6MPY2

Related

ENSMUSP00000040859.4, ENSMUST00000039500.4

Conserved Domains (1) summary

pfam07810
Location:517 → 623

TMC; TMC domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

20760820..20931566 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161422.1 → XP_036017315.1 transmembrane channel-like protein 1 isoform X1

UniProtKB/TrEMBL

A0A6S6MPY2

Conserved Domains (1) summary

pfam07810
Location:417 → 532

TMC; TMC domain