Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8TDI8

- TMC1_HUMAN

UniProt

Q8TDI8 - TMC1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

Functioni

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

GO - Molecular functioni

  1. voltage-gated calcium channel activity Source: Ensembl

GO - Biological processi

  1. auditory receptor cell development Source: Ensembl
  2. detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
  3. vestibular reflex Source: Ensembl
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 199199CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei200 – 22021HelicalSequence AnalysisAdd
BLAST
Topological domaini221 – 27252ExtracellularSequence AnalysisAdd
BLAST
Transmembranei273 – 29321HelicalSequence AnalysisAdd
BLAST
Topological domaini294 – 36572CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei366 – 38621HelicalSequence AnalysisAdd
BLAST
Topological domaini387 – 44054ExtracellularSequence AnalysisAdd
BLAST
Transmembranei441 – 46121HelicalSequence AnalysisAdd
BLAST
Topological domaini462 – 634173CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei635 – 65521HelicalSequence AnalysisAdd
BLAST
Topological domaini656 – 69944ExtracellularSequence AnalysisAdd
BLAST
Transmembranei700 – 72021HelicalSequence AnalysisAdd
BLAST
Topological domaini721 – 76040CytoplasmicSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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 non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic 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...

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.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000231742.
HOVERGENiHBG036209.
InParanoidiQ8TDI8.
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

        10         20         30         40         50
MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN
60 70 80 90 100
EDDPEPEPED EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR
110 120 130 140 150
QIIATVKCKP WKMEKKIEVL KEAKKFVSEN EGALGKGKGK RWFAFKMMMA
160 170 180 190 200
KKWAKFLRDF ENFKAACVPW ENKIKAIESQ FGSSVASYFL FLRWMYGVNM
210 220 230 240 250
VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF GVLYDFNGLA
260 270 280 290 300
QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
310 320 330 340 350
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK
360 370 380 390 400
AAQVEENVHL IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT
410 420 430 440 450
LGWWEKNEMN MVMSLLGMFC PTLFDLFAEL EDYHPLIALK WLLGRIFALL
460 470 480 490 500
LGNLYVFILA LMDEINNKIE EEKLVKANIT LWEANMIKAY NASFSENSTG
510 520 530 540 550
PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL IGDFLRACFV
560 570 580 590 600
RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
610 620 630 640 650
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP
660 670 680 690 700
VLYMIVSLPP SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG
710 720 730 740 750
LVIAVILVMV LAIYYLNATA KGQKAANLDL KKKMKMQALE NKMRNKKMAA
760
ARAAAAAGRQ
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. Curated
The sequence BAC05351.1 differs from that shown. Reason: Erroneous termination at position 744. Translated as Arg.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA38156.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78939.
GeneTreei ENSGT00760000119171.
HOGENOMi HOG000231742.
HOVERGENi HBG036209.
InParanoidi Q8TDI8.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 99 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