TMC1 transmembrane channel like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMC1provided by HGNC
Official Full Name: transmembrane channel like 1provided by HGNC
Primary source: HGNC:HGNC:16513
See related: Ensembl:ENSG00000165091 MIM:606706; AllianceGenome:HGNC:16513
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DFNB7; DFNA36; DFNB11
Summary: This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.13

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (72521608..72838297)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (84672507..84989215)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (75136524..75453213)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
Title: Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.
Title: A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.
GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans.
Title: GABA signaling triggered by TMC-1/Tmc delays neuronal aging by inhibiting the PKC pathway in C. elegans.
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
Title: Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Title: New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.
Title: Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Title: Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Title: Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.
Title: Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.
We suggest that KCNQ1, expression of which is not thought to overlap with TMC1 in hair cells, is a proxy partner bearing structural elements or a sequence motif reminiscent of a true in vivo TMC1 hair cell partner.
Title: KCNQ1 rescues TMC1 plasma membrane expression but not mechanosensitive channel activity.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 36 MedGen: C1847626 OMIM: 606705 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Autosomal recessive nonsyndromic hearing loss 7 MedGen: C1832978 OMIM: 600974 GeneReviews: Genetic Hearing Loss Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transmembrane channel-like 1 (TMC1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1837 (e-PCR), detects polymorphism
- UniSTS:28163

SHGC-82771 (e-PCR)
- UniSTS:95762

D2S2650 (e-PCR)
- UniSTS:42259

SHGC-151241 (e-PCR)
- UniSTS:173619

G62710 (e-PCR)
- UniSTS:139835

D9S1876 (e-PCR), detects polymorphism
- UniSTS:46141

SHGC-85731 (e-PCR)
- UniSTS:103761

D9S1124 (e-PCR)
- UniSTS:55392

SHGC-152476 (e-PCR)
- UniSTS:184936

G59654 (e-PCR)
- UniSTS:136809

SHGC-3163 (e-PCR)
- UniSTS:33147

SHGC-153684 (e-PCR)
- UniSTS:177881

G54585 (e-PCR)
- UniSTS:117722

RH120638 (e-PCR)
- UniSTS:132579

SHGC-148828 (e-PCR)
- UniSTS:176633

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mechanosensitive monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in auditory receptor cell development	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in detection of mechanical stimulus involved in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vestibular reflex	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in stereocilium tip	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane channel-like protein 1

Names: 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.