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Q8R4P5

- TMC1_MOUSE

UniProt

Q8R4P5 - TMC1_MOUSE

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 193193CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei194 – 21421HelicalSequence AnalysisAdd
BLAST
Topological domaini215 – 26652ExtracellularSequence AnalysisAdd
BLAST
Transmembranei267 – 28721HelicalSequence AnalysisAdd
BLAST
Topological domaini288 – 35972CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei360 – 38021HelicalSequence AnalysisAdd
BLAST
Topological domaini381 – 43454ExtracellularSequence AnalysisAdd
BLAST
Transmembranei435 – 45521HelicalSequence AnalysisAdd
BLAST
Topological domaini456 – 631176CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei632 – 65221HelicalSequence AnalysisAdd
BLAST
Topological domaini653 – 69644ExtracellularSequence AnalysisAdd
BLAST
Transmembranei697 – 71721HelicalSequence AnalysisAdd
BLAST
Topological domaini718 – 75740CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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.
ExpressionAtlasiQ8R4P5. baseline and differential.
GenevestigatoriQ8R4P5.

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.
GeneTreeiENSGT00760000119171.
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

        10         20         30         40         50
MLQIQVEEKE EDTEESSSEE EEDKLPRRES LRPKRKRTRD VINEDDPEPE
60 70 80 90 100
PEDEETRKAR EKERRRRLRR GAEEEEEIDE EELERLKALL DENRQMIATV
110 120 130 140 150
KCKPWKMEKK IEVLKEAKKF VSENEGALGK GKGKKWFAFK MMMAKKWAKF
160 170 180 190 200
LRDFENFKAA CVPWENKIKA IESQFGSSVA SYFLFLRWMY GVNMVLFVLT
210 220 230 240 250
FSLIMLPEYL WGLPYGSLPR KTVPRAEEAS AANFGVLYDF NGLAQYSVLF
260 270 280 290 300
YGYYDNKRTI GWLNFRLPLS YFLVGIMCIG YSFLVVLKAM TKNIGDDGGG
310 320 330 340 350
DDNTFNFSWK VFCSWDYLIG NPETADNKFN SITMNFKEAI IEERAAQVEE
360 370 380 390 400
NIHLIRFLRF LANFFVFLTL GASGYLIFWA VKRSQEFAQQ DPDTLGWWEK
410 420 430 440 450
NEMNMVMSLL GMFCPTLFDL FAELEDYHPL IALKWLLGRI FALLLGNLYV
460 470 480 490 500
FILALMDEIN NKIEEEKLVK ANITLWEANM IKAYNESLSG LSGNTTGAPF
510 520 530 540 550
FVHPADVPRG PCWETMVGQE FVRLTVSDVL TTYVTILIGD FLRACFVRFC
560 570 580 590 600
NYCWCWDLEY GYPSYTEFDI SGNVLALIFN QGMIWMGSFF APSLPGINIL
610 620 630 640 650
RLHTSMYFQC WAVMCCNVPE ARVFKASRSN NFYLGMLLLI LFLSTMPVLY
660 670 680 690 700
MIVSLPPSFD CGPFSGKNRM FEVIGETLEH DFPSWMAKIL RQLSNPGLVI
710 720 730 740 750
AVILVMVLTI YYLNATAKGQ KAANLDLKKK MKQQALENKM RNKKMAAARA

AAAAGGQ
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 ENSGT00760000119171.
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.
ExpressionAtlasi Q8R4P5. baseline and differential.
Genevestigatori Q8R4P5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 90 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