Skip Header

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

Transmembrane channel-like protein 1

Gene

TMC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Hearing, Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165091-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:16513. TMC1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 199CytoplasmicSequence analysisAdd BLAST199
Transmembranei200 – 220HelicalSequence analysisAdd BLAST21
Topological domaini221 – 272ExtracellularSequence analysisAdd BLAST52
Transmembranei273 – 293HelicalSequence analysisAdd BLAST21
Topological domaini294 – 365CytoplasmicSequence analysisAdd BLAST72
Transmembranei366 – 386HelicalSequence analysisAdd BLAST21
Topological domaini387 – 440ExtracellularSequence analysisAdd BLAST54
Transmembranei441 – 461HelicalSequence analysisAdd BLAST21
Topological domaini462 – 634CytoplasmicSequence analysisAdd BLAST173
Transmembranei635 – 655HelicalSequence analysisAdd BLAST21
Topological domaini656 – 699ExtracellularSequence analysisAdd BLAST44
Transmembranei700 – 720HelicalSequence analysisAdd BLAST21
Topological domaini721 – 760CytoplasmicSequence analysisAdd BLAST40

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 36 (DFNA36)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:606705
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014125572D → N in DFNA36. 1 PublicationCorresponds to variant rs121908072dbSNPEnsembl.1
Deafness, autosomal recessive, 7 (DFNB7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600974
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014126654M → V in DFNB7. 1 PublicationCorresponds to variant rs121908074dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi117531.
MalaCardsiTMC1.
MIMi600974. phenotype.
606705. phenotype.
OpenTargetsiENSG00000165091.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA38156.

Polymorphism and mutation databases

BioMutaiTMC1.
DMDMi212286376.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001853801 – 760Transmembrane channel-like protein 1Add BLAST760

Proteomic databases

PaxDbiQ8TDI8.
PeptideAtlasiQ8TDI8.
PRIDEiQ8TDI8.

PTM databases

iPTMnetiQ8TDI8.
PhosphoSitePlusiQ8TDI8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000165091.
CleanExiHS_TMC1.
GenevisibleiQ8TDI8. HS.

Organism-specific databases

HPAiHPA044166.
HPA046773.

Interactioni

Protein-protein interaction databases

BioGridi125588. 2 interactors.
IntActiQ8TDI8. 1 interactor.
STRINGi9606.ENSP00000297784.

Structurei

3D structure databases

ProteinModelPortaliQ8TDI8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi4 – 178Arg/Asp/Glu/Lys-rich (highly charged)Add BLAST175
Compositional biasi749 – 757Poly-Ala9

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF2J. Eukaryota.
ENOG410XTGF. LUCA.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000231742.
HOVERGENiHBG036209.
InParanoidiQ8TDI8.
OMAiMIATVKC.
OrthoDBiEOG091G00X0.
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 differs from that shown. Reason: Frameshift at position 588.Curated
The sequence BAC05351 differs from that shown. Reason: Erroneous termination at position 744. Translated as Arg.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti673M → R in BAC05351 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05233381E → K.1 PublicationCorresponds to variant rs1796993dbSNPEnsembl.1
Natural variantiVAR_052334141R → W.Corresponds to variant rs11143384dbSNPEnsembl.1
Natural variantiVAR_052335486M → T.Corresponds to variant rs17058153dbSNPEnsembl.1
Natural variantiVAR_014125572D → N in DFNA36. 1 PublicationCorresponds to variant rs121908072dbSNPEnsembl.1
Natural variantiVAR_014126654M → V in DFNB7. 1 PublicationCorresponds to variant rs121908074dbSNPEnsembl.1

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.

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.
CCDSiCCDS6643.1.
RefSeqiNP_619636.2. NM_138691.2.
UniGeneiHs.670211.

3D structure databases

ProteinModelPortaliQ8TDI8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125588. 2 interactors.
IntActiQ8TDI8. 1 interactor.
STRINGi9606.ENSP00000297784.

PTM databases

iPTMnetiQ8TDI8.
PhosphoSitePlusiQ8TDI8.

Polymorphism and mutation databases

BioMutaiTMC1.
DMDMi212286376.

Proteomic databases

PaxDbiQ8TDI8.
PeptideAtlasiQ8TDI8.
PRIDEiQ8TDI8.

Protocols and materials databases

DNASUi117531.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi117531.
DisGeNETi117531.
GeneCardsiTMC1.
GeneReviewsiTMC1.
H-InvDBHIX0008098.
HGNCiHGNC:16513. TMC1.
HPAiHPA044166.
HPA046773.
MalaCardsiTMC1.
MIMi600974. phenotype.
606705. phenotype.
606706. gene.
neXtProtiNX_Q8TDI8.
OpenTargetsiENSG00000165091.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA38156.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF2J. Eukaryota.
ENOG410XTGF. LUCA.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000231742.
HOVERGENiHBG036209.
InParanoidiQ8TDI8.
OMAiMIATVKC.
OrthoDBiEOG091G00X0.
PhylomeDBiQ8TDI8.
TreeFamiTF313462.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165091-MONOMER.

Miscellaneous databases

ChiTaRSiTMC1. human.
GeneWikiiTMC1.
GenomeRNAii117531.
PROiQ8TDI8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165091.
CleanExiHS_TMC1.
GenevisibleiQ8TDI8. HS.

Family and domain databases

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

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: November 2, 2016
This is version 112 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.