TMC1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | TMC1 |
| Official Name | transmembrane channel like 1 [Source:HGNC Symbol;Acc:HGNC:16513] |
| Ensembl ID | ENSG00000165091 |
| Bio databases IDs | |
| Aliases | transmembrane channel like 1 |
| Synonyms | 4933416G09Rik, Beethoven, Bth, CWEA1, DFNA36, DFNB11, DFNB7, dn, TMC1ex1, transmembrane channel-like 1, transmembrane channel-like gene family 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- voltage-gated calcium channel
- Calcium-activated chloride channel
- calcium channel
- protein binding
- mechanically-gated ion channel
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness
- autosomal recessive deafness type 7
- autosomal dominant deafness type 36
- autosomal recessive nonsyndromic hearing loss
- autosomal dominant deafness
- psoriasis
- hearing loss
- familial nonsyndromic hearing impairment
- age-related hearing loss
- hereditary age-related sensorineural hearing loss
role in cell
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- stereocilia
- plasma membrane extracellular face
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion transmembrane transport
- vestibular reflex
- detection of mechanical stimulus involved in sensory perception of sound
- auditory receptor cell development
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- mechanically-gated ion channel activity
- voltage-gated calcium channel activity