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Q8R4P5

- TMC1_MOUSE

UniProt

Q8R4P5 - TMC1_MOUSE

Protein

Transmembrane channel-like protein 1

Gene

Tmc1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    Probable ion channel required for the normal function of cochlear hair cells.1 Publication

    GO - Molecular functioni

    1. voltage-gated calcium channel activity Source: MGI

    GO - Biological processi

    1. auditory receptor cell development Source: MGI
    2. calcium ion transmembrane transport Source: MGI
    3. detection of mechanical stimulus involved in sensory perception of sound Source: MGI
    4. vestibular reflex Source: MGI

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Hearing, Ion transport, Transport

    Protein family/group databases

    TCDBi1.A.17.4.6. the calcium-dependent chloride channel (ca-clc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane channel-like protein 1
    Alternative name(s):
    Beethoven protein
    Deafness protein
    Transmembrane cochlear-expressed protein 1
    Gene namesi
    Name:Tmc1
    Synonyms:Bth, dn
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 19

    Organism-specific databases

    MGIiMGI:2151016. Tmc1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Tmc1 are the cause of the dominant deaf mutant Beethoven (BTH). Heterozygotes show progressive hair-cell degeneration from day 20 onwards, leading to severe depletion of inner hair cells and scattered loss of outer hair cells, and progressive loss of the Preyer reflex from around day 30. Homozygotes show almost complete degeneration of inner hair cells, and little or no Preyer reflex at any age.
    Defects in Tmc1 are the cause of recessive deaf mutant dn. The dn mutant shows profound deafness with degeneration of the organ of Corti, stria vascularis, and occasionally the saccular macula, starting at about 10 days after birth.

    Keywords - Diseasei

    Deafness, Disease mutation

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 757757Transmembrane channel-like protein 1PRO_0000185381Add
    BLAST

    Proteomic databases

    PaxDbiQ8R4P5.
    PRIDEiQ8R4P5.

    PTM databases

    PhosphoSiteiQ8R4P5.

    Expressioni

    Tissue specificityi

    Detected in cochlear inner and outer hair cells and in neurosensory epithelia of the vestibular end organs. Also expressed in cortex, cerebellum, eye, colon, ovary and testis.1 Publication

    Developmental stagei

    Expressed at low, constant levels in temporal bone from embryonic day 14 to day 1 after birth. Increases by 8 to 16-fold at day 5, 10 and 20 and continues to be expressed up to day 90.

    Gene expression databases

    BgeeiQ8R4P5.
    CleanExiMM_TMC1.
    GenevestigatoriQ8R4P5.

    Structurei

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 193193CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini215 – 26652ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini288 – 35972CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini381 – 43454ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini456 – 631176CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini653 – 69644ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini718 – 75740CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei194 – 21421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei267 – 28721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei360 – 38021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei435 – 45521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei632 – 65221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei697 – 71721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi7 – 172166Arg/Asp/Glu/Lys-rich (highly charged)Add
    BLAST
    Compositional biasi746 – 7549Poly-Ala

    Sequence similaritiesi

    Belongs to the TMC family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG78939.
    GeneTreeiENSGT00670000097681.
    HOGENOMiHOG000231742.
    HOVERGENiHBG036209.
    InParanoidiQ8R4P5.
    OMAiMDEINNK.
    OrthoDBiEOG7FR7FN.
    PhylomeDBiQ8R4P5.
    TreeFamiTF313462.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8R4P5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLQIQVEEKE EDTEESSSEE EEDKLPRRES LRPKRKRTRD VINEDDPEPE    50
    PEDEETRKAR EKERRRRLRR GAEEEEEIDE EELERLKALL DENRQMIATV 100
    KCKPWKMEKK IEVLKEAKKF VSENEGALGK GKGKKWFAFK MMMAKKWAKF 150
    LRDFENFKAA CVPWENKIKA IESQFGSSVA SYFLFLRWMY GVNMVLFVLT 200
    FSLIMLPEYL WGLPYGSLPR KTVPRAEEAS AANFGVLYDF NGLAQYSVLF 250
    YGYYDNKRTI GWLNFRLPLS YFLVGIMCIG YSFLVVLKAM TKNIGDDGGG 300
    DDNTFNFSWK VFCSWDYLIG NPETADNKFN SITMNFKEAI IEERAAQVEE 350
    NIHLIRFLRF LANFFVFLTL GASGYLIFWA VKRSQEFAQQ DPDTLGWWEK 400
    NEMNMVMSLL GMFCPTLFDL FAELEDYHPL IALKWLLGRI FALLLGNLYV 450
    FILALMDEIN NKIEEEKLVK ANITLWEANM IKAYNESLSG LSGNTTGAPF 500
    FVHPADVPRG PCWETMVGQE FVRLTVSDVL TTYVTILIGD FLRACFVRFC 550
    NYCWCWDLEY GYPSYTEFDI SGNVLALIFN QGMIWMGSFF APSLPGINIL 600
    RLHTSMYFQC WAVMCCNVPE ARVFKASRSN NFYLGMLLLI LFLSTMPVLY 650
    MIVSLPPSFD CGPFSGKNRM FEVIGETLEH DFPSWMAKIL RQLSNPGLVI 700
    AVILVMVLTI YYLNATAKGQ KAANLDLKKK MKQQALENKM RNKKMAAARA 750
    AAAAGGQ 757
    Length:757
    Mass (Da):87,264
    Last modified:June 1, 2002 - v1
    Checksum:i9FB6CB73A7DD367D
    GO
    Isoform 2 (identifier: Q8R4P5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-545: Missing.
         546-562: FVRFCNYCWCWDLEYGY → MQQIPDALHSSPIALYE
         751-757: AAAAGGQ → GWRCGFVWRF...KKKKKDGKFQ

    Note: No experimental confirmation available.

    Show »
    Length:279
    Mass (Da):31,965
    Checksum:i71E4F324D407716E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti412 – 4121M → K in BTH. 1 Publication

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 545545Missing in isoform 2. 1 PublicationVSP_006435Add
    BLAST
    Alternative sequencei546 – 56217FVRFC…LEYGY → MQQIPDALHSSPIALYE in isoform 2. 1 PublicationVSP_006436Add
    BLAST
    Alternative sequencei751 – 7577AAAAGGQ → GWRCGFVWRFCVPNSPYTLA LPMRHSMARHHRPWELIPRF LPSIISDLPKHLSEALISFP WEWIKKKKKDGKFQ in isoform 2. 1 PublicationVSP_006437

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF417579 mRNA. Translation: AAL86400.1.
    AK016832 mRNA. No translation available.
    AY263155 mRNA. Translation: AAP35263.1.
    CCDSiCCDS50403.1. [Q8R4P5-1]
    RefSeqiNP_083229.1. NM_028953.2. [Q8R4P5-1]
    UniGeneiMm.219585.

    Genome annotation databases

    EnsembliENSMUST00000039500; ENSMUSP00000040859; ENSMUSG00000024749. [Q8R4P5-1]
    GeneIDi13409.
    KEGGimmu:13409.
    UCSCiuc008gyo.1. mouse. [Q8R4P5-2]
    uc008gyp.1. mouse. [Q8R4P5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF417579 mRNA. Translation: AAL86400.1 .
    AK016832 mRNA. No translation available.
    AY263155 mRNA. Translation: AAP35263.1 .
    CCDSi CCDS50403.1. [Q8R4P5-1 ]
    RefSeqi NP_083229.1. NM_028953.2. [Q8R4P5-1 ]
    UniGenei Mm.219585.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

    TCDBi 1.A.17.4.6. the calcium-dependent chloride channel (ca-clc) family.

    PTM databases

    PhosphoSitei Q8R4P5.

    Proteomic databases

    PaxDbi Q8R4P5.
    PRIDEi Q8R4P5.

    Protocols and materials databases

    DNASUi 13409.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000039500 ; ENSMUSP00000040859 ; ENSMUSG00000024749 . [Q8R4P5-1 ]
    GeneIDi 13409.
    KEGGi mmu:13409.
    UCSCi uc008gyo.1. mouse. [Q8R4P5-2 ]
    uc008gyp.1. mouse. [Q8R4P5-1 ]

    Organism-specific databases

    CTDi 117531.
    MGIi MGI:2151016. Tmc1.

    Phylogenomic databases

    eggNOGi NOG78939.
    GeneTreei ENSGT00670000097681.
    HOGENOMi HOG000231742.
    HOVERGENi HBG036209.
    InParanoidi Q8R4P5.
    OMAi MDEINNK.
    OrthoDBi EOG7FR7FN.
    PhylomeDBi Q8R4P5.
    TreeFami TF313462.

    Miscellaneous databases

    NextBioi 283811.
    PROi Q8R4P5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8R4P5.
    CleanExi MM_TMC1.
    Genevestigatori Q8R4P5.

    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] (ISOFORM 1), FUNCTION.
      Strain: BALB/c.
      Tissue: Cochlea.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Strain: C57BL/6J.
      Tissue: Testis.
    3. "TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins."
      Keresztes G., Mutai H., Heller S.
      BMC Genomics 4:24-24(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 522-658, TISSUE SPECIFICITY.
      Strain: C57BL/6J.
    4. Cited for: VARIANT BTH LYS-412.

    Entry informationi

    Entry nameiTMC1_MOUSE
    AccessioniPrimary (citable) accession number: Q8R4P5
    Secondary accession number(s): Q7TQB2, Q9D435
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 19, 2002
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 89 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3