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Q8TDI8 (TMC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane channel-like protein 1
Alternative name(s):
Transmembrane cochlear-expressed protein 1
Gene names
Name:TMC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length760 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable ion channel required for the normal function of cochlear hair cells By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Detected in fetal cochlea, and at low levels in placenta and testis.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

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. Ref.1

Sequence similarities

Belongs to the TMC family.

Sequence caution

The sequence BAC05351.1 differs from that shown. Reason: Erroneous termination at position 744. Translated as Arg.

The sequence BAC05351.1 differs from that shown. Reason: Frameshift at position 588.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 760760Transmembrane channel-like protein 1
PRO_0000185380

Regions

Topological domain1 – 199199Cytoplasmic Potential
Transmembrane200 – 22021Helical; Potential
Topological domain221 – 27252Extracellular Potential
Transmembrane273 – 29321Helical; Potential
Topological domain294 – 36572Cytoplasmic Potential
Transmembrane366 – 38621Helical; Potential
Topological domain387 – 44054Extracellular Potential
Transmembrane441 – 46121Helical; Potential
Topological domain462 – 634173Cytoplasmic Potential
Transmembrane635 – 65521Helical; Potential
Topological domain656 – 69944Extracellular Potential
Transmembrane700 – 72021Helical; Potential
Topological domain721 – 76040Cytoplasmic Potential
Compositional bias4 – 178175Arg/Asp/Glu/Lys-rich (highly charged)
Compositional bias749 – 7579Poly-Ala

Natural variations

Natural variant811E → K. Ref.1
Corresponds to variant rs1796993 [ dbSNP | Ensembl ].
VAR_052333
Natural variant1411R → W.
Corresponds to variant rs11143384 [ dbSNP | Ensembl ].
VAR_052334
Natural variant4861M → T.
Corresponds to variant rs17058153 [ dbSNP | Ensembl ].
VAR_052335
Natural variant5721D → N in DFNA36. Ref.1
VAR_014125
Natural variant6541M → V in DFNB7. Ref.1
VAR_014126

Experimental info

Sequence conflict6731M → R in BAC05351. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q8TDI8 [UniParc].

Last modified July 22, 2008. Version 2.
Checksum: 129D585A4B44EAAA

FASTA76087,768
        10         20         30         40         50         60 
MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED 

        70         80         90        100        110        120 
EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL 

       130        140        150        160        170        180 
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ 

       190        200        210        220        230        240 
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF 

       250        260        270        280        290        300 
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI 

       310        320        330        340        350        360 
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL 

       370        380        390        400        410        420 
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC 

       430        440        450        460        470        480 
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT 

       490        500        510        520        530        540 
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL 

       550        560        570        580        590        600 
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI 

       610        620        630        640        650        660 
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP 

       670        680        690        700        710        720 
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA 

       730        740        750        760 
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ 

« Hide

References

« Hide 'large scale' references
[1]"Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function."
Kurima K., Peters L.M., Yang Y., Riazuddin S., Ahmed Z.M., Naz S., Arnaud D., Drury S., Mo J., Makishima T., Ghosh M., Menon P.S.N., Deshmukh D., Oddoux C., Ostrer H., Khan S., Raizuddin S., Deininger P.L. expand/collapse author list , Hampton L.L., Sullivan S.L., Battey J.F., Keats B.J.B., Wilcox E.R., Friedman T.B., Griffith A.J.
Nat. Genet. 30:277-284(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LYS-81; DFNA36 ASN-572 AND DFNB7 VAL-654.
Tissue: Fetal brain.
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 460-760.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF417578 mRNA. Translation: AAL86399.1.
AL591662, AL162416, AL590662 Genomic DNA. Translation: CAH72029.1.
AL162416, AL590662, AL591662 Genomic DNA. Translation: CAH72129.1.
AL590662, AL162416, AL591662 Genomic DNA. Translation: CAI15164.1.
CH471089 Genomic DNA. Translation: EAW62541.1.
AK098607 mRNA. Translation: BAC05351.1. Sequence problems.
CCDSCCDS6643.1.
RefSeqNP_619636.2. NM_138691.2.
UniGeneHs.670211.

3D structure databases

ProteinModelPortalQ8TDI8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125588. 2 interactions.
IntActQ8TDI8. 1 interaction.
STRING9606.ENSP00000297784.

PTM databases

PhosphoSiteQ8TDI8.

Polymorphism databases

DMDM212286376.

Proteomic databases

MaxQBQ8TDI8.
PaxDbQ8TDI8.
PRIDEQ8TDI8.

Protocols and materials databases

DNASU117531.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297784; ENSP00000297784; ENSG00000165091.
ENST00000340019; ENSP00000341433; ENSG00000165091.
ENST00000396237; ENSP00000379538; ENSG00000165091.
GeneID117531.
KEGGhsa:117531.
UCSCuc004aiz.1. human.

Organism-specific databases

CTD117531.
GeneCardsGC09P075137.
GeneReviewsTMC1.
H-InvDBHIX0008098.
HGNCHGNC:16513. TMC1.
HPAHPA044166.
HPA046773.
MIM600974. phenotype.
606705. phenotype.
606706. gene.
neXtProtNX_Q8TDI8.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA38156.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78939.
HOGENOMHOG000231742.
HOVERGENHBG036209.
OMAMDEINNK.
OrthoDBEOG7FR7FN.
PhylomeDBQ8TDI8.
TreeFamTF313462.

Gene expression databases

BgeeQ8TDI8.
CleanExHS_TMC1.
GenevestigatorQ8TDI8.

Family and domain databases

InterProIPR012496. TMC.
[Graphical view]
PfamPF07810. TMC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMC1. human.
GeneWikiTMC1.
GenomeRNAi117531.
NextBio80206.
PROQ8TDI8.
SOURCESearch...

Entry information

Entry nameTMC1_HUMAN
AccessionPrimary (citable) accession number: Q8TDI8
Secondary accession number(s): A8MVZ2, B1AM91
Entry history
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: July 22, 2008
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM