• Gene id: 117531

Gene Summary

• Gene Symbol: TMC1   Gene   UCSC   Ensembl
• Aliases: DFNA36, DFNB11, DFNB7
• Gene name: transmembrane channel like 1
• Alternate names: transmembrane channel-like protein 1, transmembrane cochlear-expressed protein 1, transmembrane, cochlear expressed, 1,
• Gene location: 9q21.13 (72521607: 72838296)     Exons: 25     NC_000009.12
• Gene summary(Entrez): 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 a

Protein Summary

• Protein general information: Q8TDI8  
  • Name: Transmembrane channel like protein 1 (Transmembrane cochlear expressed protein 1)
  • Length: 760  
  • Mass: 87768
  • Tissue specificity: Detected in fetal cochlea, and at low levels in placenta and testis.
• Sequence:

  MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKERRRRL
  KRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGKRWFAFKMMMA
  KKWAKFLRDFENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLIMLPEYLWGLPYGSLP
  RKTVPRAEEASAANFGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLVGIMCIGYSFLVVLKAMTKNI
  GDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEKAAQVEENVHLIRFLRFLANFFVFLT
  LGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFCPTLFDLFAELEDYHPLIALKWLLGRIFALL
  LGNLYVFILALMDEINNKIEEEKLVKANITLWEANMIKAYNASFSENSTGPPFFVHPADVPRGPCWETMVGQEFV
  RLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWDLEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGI
  NILRLHTSMYFQCWAVMCCNVPEARVFKASRSNNFYLGMLLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFE
  VIGETLEHDFPSWMAKILRQLSNPGLVIAVILVMVLAIYYLNATAKGQKAANLDLKKKMKMQALENKMRNKKMAA
  ARAAAAAGRQ

• Structural information:
  • Interpro: IPR038900  IPR012496  
  • STRING: ENSP00000297784
• Other Databases: GeneCards:  TMC1  Malacards:  TMC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IBA	biological process
GO:0008381	mechanosensitive ion channel activity	IBA	molecular function
GO:0005245	voltage-gated calcium channel activity	IBA	molecular function
GO:0060005	vestibular reflex	IBA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0060005	vestibular reflex	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:1903169	regulation of calcium ion transmembrane transport	IEA	biological process
GO:0060117	auditory receptor cell development	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0032426	stereocilium tip	IEA	cellular component
GO:0008381	mechanosensitive ion channel activity	IEA	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Sensorineural hearing loss	PMID:11850618
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq