Entity Details

Primary name TMC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8TDI8
EntryNameTMC1_HUMAN
FullNameTransmembrane channel-like protein 1
TaxID9606
Evidenceevidence at transcript level
Length760
SequenceStatuscomplete
DateCreated2002-10-19
DateModified2021-06-02

Ontological Relatives

GenesTMC1

GO terms

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GOName
GO:0005245 voltage-gated calcium channel activity
GO:0005887 integral component of plasma membrane
GO:0008381 mechanosensitive ion channel activity
GO:0009897 external side of plasma membrane
GO:0032426 stereocilium tip
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0060005 vestibular reflex
GO:0060117 auditory receptor cell development
GO:1903169 regulation of calcium ion transmembrane transport

Subcellular Location

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Subcellular Location
Cell membrane

Domains

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DomainNameCategoryType
IPR012496 TMC domainDomainDomain
IPR038900 Transmembrane channel-like proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
600974 OMIMDeafness, autosomal recessive, 7 (DFNB7)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. The disease is caused by variants affecting the gene represented in this entry.
606705 OMIMDeafness, autosomal dominant, 36 (DFNA36)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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