Version 5.4
Homo sapiens Protein: TMC1
Summary
InnateDB Protein IDBP-70962.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMC1
Protein Name transmembrane channel-like 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000341433
InnateDB Gene IDBG-70958 (TMC1)
Protein Structure
UniProt Annotation
Function Probable ion channel required for the normal function of cochlear hair cells. {ECO:0000250}.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations Deafness, autosomal dominant, 36 (DFNA36) [MIM:606705]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. {ECO:0000269PubMed:11850618}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 7 (DFNB7) [MIM:600974]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Detected in fetal cochlea, and at low levels in placenta and testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006811 ion transport
Cellular Component
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR012496 TMC
PFAM PF07810
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TDI8
PhosphoSite PhosphoSite-Q8TDI8
TrEMBL
UniProt Splice Variant
Entrez Gene 117531
UniGene Hs.670211
RefSeq
HUGO HGNC:16513
OMIM 606706
CCDS CCDS6643
HPRD 05988
IMGT
EMBL AF417578 AK098607 AL162416 AL590662 AL591662 CH471089
GenPept AAL86399 BAC05351 CAH72029 CAH72129 CAI15164 EAW62541

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca