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Q8TDI8

- TMC1_HUMAN

UniProt

Q8TDI8 - TMC1_HUMAN

Protein

Transmembrane channel-like protein 1

Gene

TMC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (22 Jul 2008)
      Previous versions | rss
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    Functioni

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

    GO - Biological processi

    1. auditory receptor cell development Source: Ensembl
    2. detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
    3. ion transport Source: UniProtKB-KW
    4. vestibular reflex Source: Ensembl

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Hearing, Ion transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane channel-like protein 1
    Alternative name(s):
    Transmembrane cochlear-expressed protein 1
    Gene namesi
    Name:TMC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:16513. TMC1.

    Subcellular locationi

    GO - Cellular componenti

    1. external side of plasma membrane Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. stereocilium bundle tip Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti572 – 5721D → N in DFNA36. 1 Publication
    VAR_014125
    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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti654 – 6541M → V in DFNB7. 1 Publication
    VAR_014126

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi600974. phenotype.
    606705. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBiPA38156.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 760760Transmembrane channel-like protein 1PRO_0000185380Add
    BLAST

    Proteomic databases

    MaxQBiQ8TDI8.
    PaxDbiQ8TDI8.
    PRIDEiQ8TDI8.

    PTM databases

    PhosphoSiteiQ8TDI8.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ8TDI8.
    CleanExiHS_TMC1.
    GenevestigatoriQ8TDI8.

    Organism-specific databases

    HPAiHPA044166.
    HPA046773.

    Interactioni

    Protein-protein interaction databases

    BioGridi125588. 2 interactions.
    IntActiQ8TDI8. 1 interaction.
    STRINGi9606.ENSP00000297784.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDI8.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 199199CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini221 – 27252ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini294 – 36572CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini387 – 44054ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini462 – 634173CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini656 – 69944ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini721 – 76040CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei200 – 22021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei273 – 29321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei366 – 38621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei441 – 46121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei635 – 65521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei700 – 72021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 178175Arg/Asp/Glu/Lys-rich (highly charged)Add
    BLAST
    Compositional biasi749 – 7579Poly-Ala

    Sequence similaritiesi

    Belongs to the TMC family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG78939.
    HOGENOMiHOG000231742.
    HOVERGENiHBG036209.
    OMAiMDEINNK.
    OrthoDBiEOG7FR7FN.
    PhylomeDBiQ8TDI8.
    TreeFamiTF313462.

    Family and domain databases

    InterProiIPR012496. TMC.
    [Graphical view]
    PfamiPF07810. TMC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8TDI8-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN    50
    EDDPEPEPED EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR 100
    QIIATVKCKP WKMEKKIEVL KEAKKFVSEN EGALGKGKGK RWFAFKMMMA 150
    KKWAKFLRDF ENFKAACVPW ENKIKAIESQ FGSSVASYFL FLRWMYGVNM 200
    VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF GVLYDFNGLA 250
    QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI 300
    GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK 350
    AAQVEENVHL IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT 400
    LGWWEKNEMN MVMSLLGMFC PTLFDLFAEL EDYHPLIALK WLLGRIFALL 450
    LGNLYVFILA LMDEINNKIE EEKLVKANIT LWEANMIKAY NASFSENSTG 500
    PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL IGDFLRACFV 550
    RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI 600
    NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP 650
    VLYMIVSLPP SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG 700
    LVIAVILVMV LAIYYLNATA KGQKAANLDL KKKMKMQALE NKMRNKKMAA 750
    ARAAAAAGRQ 760
    Length:760
    Mass (Da):87,768
    Last modified:July 22, 2008 - v2
    Checksum:i129D585A4B44EAAA
    GO

    Sequence cautioni

    The sequence BAC05351.1 differs from that shown. Reason: Frameshift at position 588.
    The sequence BAC05351.1 differs from that shown. Reason: Erroneous termination at position 744. Translated as Arg.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti673 – 6731M → R in BAC05351. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti81 – 811E → K.1 Publication
    Corresponds to variant rs1796993 [ dbSNP | Ensembl ].
    VAR_052333
    Natural varianti141 – 1411R → W.
    Corresponds to variant rs11143384 [ dbSNP | Ensembl ].
    VAR_052334
    Natural varianti486 – 4861M → T.
    Corresponds to variant rs17058153 [ dbSNP | Ensembl ].
    VAR_052335
    Natural varianti572 – 5721D → N in DFNA36. 1 Publication
    VAR_014125
    Natural varianti654 – 6541M → V in DFNB7. 1 Publication
    VAR_014126

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS6643.1.
    RefSeqiNP_619636.2. NM_138691.2.
    UniGeneiHs.670211.

    Genome annotation databases

    EnsembliENST00000297784; ENSP00000297784; ENSG00000165091.
    ENST00000340019; ENSP00000341433; ENSG00000165091.
    GeneIDi117531.
    KEGGihsa:117531.
    UCSCiuc004aiz.1. human.

    Polymorphism databases

    DMDMi212286376.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS6643.1.
    RefSeqi NP_619636.2. NM_138691.2.
    UniGenei Hs.670211.

    3D structure databases

    ProteinModelPortali Q8TDI8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125588. 2 interactions.
    IntActi Q8TDI8. 1 interaction.
    STRINGi 9606.ENSP00000297784.

    PTM databases

    PhosphoSitei Q8TDI8.

    Polymorphism databases

    DMDMi 212286376.

    Proteomic databases

    MaxQBi Q8TDI8.
    PaxDbi Q8TDI8.
    PRIDEi Q8TDI8.

    Protocols and materials databases

    DNASUi 117531.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297784 ; ENSP00000297784 ; ENSG00000165091 .
    ENST00000340019 ; ENSP00000341433 ; ENSG00000165091 .
    GeneIDi 117531.
    KEGGi hsa:117531.
    UCSCi uc004aiz.1. human.

    Organism-specific databases

    CTDi 117531.
    GeneCardsi GC09P075137.
    GeneReviewsi TMC1.
    H-InvDB HIX0008098.
    HGNCi HGNC:16513. TMC1.
    HPAi HPA044166.
    HPA046773.
    MIMi 600974. phenotype.
    606705. phenotype.
    606706. gene.
    neXtProti NX_Q8TDI8.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA38156.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78939.
    HOGENOMi HOG000231742.
    HOVERGENi HBG036209.
    OMAi MDEINNK.
    OrthoDBi EOG7FR7FN.
    PhylomeDBi Q8TDI8.
    TreeFami TF313462.

    Miscellaneous databases

    ChiTaRSi TMC1. human.
    GeneWikii TMC1.
    GenomeRNAii 117531.
    NextBioi 80206.
    PROi Q8TDI8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8TDI8.
    CleanExi HS_TMC1.
    Genevestigatori Q8TDI8.

    Family and domain databases

    InterProi IPR012496. TMC.
    [Graphical view ]
    Pfami PF07810. TMC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. 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.
      , 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.

    Entry informationi

    Entry nameiTMC1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDI8
    Secondary accession number(s): A8MVZ2, B1AM91
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: July 22, 2008
    Last modified: October 1, 2014
    This is version 98 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3