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Entry version 133 (18 Sep 2019)
Sequence version 2 (22 Jul 2008)
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Protein

Transmembrane channel-like protein 1

Gene

TMC1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processHearing, Ion transport, Transport

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.17.4.15 the calcium-dependent chloride channel (ca-clc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Transmembrane channel-like protein 1
Alternative name(s):
Transmembrane cochlear-expressed protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TMC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16513 TMC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606706 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TDI8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 199CytoplasmicSequence analysisAdd BLAST199
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal dominant, 36 (DFNA36)2 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_014125572D → N in DFNA36. 2 PublicationsCorresponds to variant dbSNP:rs121908072EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014126654M → V in DFNB7. 1 PublicationCorresponds to variant dbSNP:rs121908074EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
117531

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TMC1

MalaCards human disease database

More...
MalaCardsi
TMC1
MIMi600974 phenotype
606705 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165091

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38156

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212286376

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001853801 – 760Transmembrane channel-like protein 1Add BLAST760

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8TDI8

PeptideAtlas

More...
PeptideAtlasi
Q8TDI8

PRoteomics IDEntifications database

More...
PRIDEi
Q8TDI8

ProteomicsDB human proteome resource

More...
ProteomicsDBi
74293

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TDI8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TDI8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165091 Expressed in 69 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TDI8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TDI8 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with TOMT. The interaction of TMC1 and TMC2 with TOMT is required for the transportation of TMC1/2 into the stereocilia of hair cells.

Interacts (via N-terminus) with both isoforms CD1 and CD3 of PCDH15.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125588, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q8TDI8, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297784

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TDI8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi4 – 178Arg/Asp/Glu/Lys-rich (highly charged)Add BLAST175
Compositional biasi749 – 757Poly-Ala9

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IF2J Eukaryota
ENOG410XTGF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00970000193351

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231742

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TDI8

KEGG Orthology (KO)

More...
KOi
K21988

Identification of Orthologs from Complete Genome Data

More...
OMAi
ITIWEAN

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TDI8

TreeFam database of animal gene trees

More...
TreeFami
TF313462

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23302 PTHR23302, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07810 TMC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i129D585A4B44EAAA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YDA3A0A2R8YDA3_HUMAN
Transmembrane channel-like protein
TMC1
688Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDK2A0A2R8YDK2_HUMAN
Transmembrane channel-like protein
TMC1
422Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGM2A0A2R8YGM2_HUMAN
Transmembrane channel-like protein
TMC1
441Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y434A0A2R8Y434_HUMAN
Transmembrane channel-like protein
TMC1
627Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0T8A0A494C0T8_HUMAN
Transmembrane channel-like protein
TMC1
636Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDJ2A0A2R8YDJ2_HUMAN
Transmembrane channel-like protein
TMC1
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti673M → R in BAC05351 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05233381E → K1 PublicationCorresponds to variant dbSNP:rs1796993EnsemblClinVar.1
Natural variantiVAR_052334141R → W. Corresponds to variant dbSNP:rs11143384EnsemblClinVar.1
Natural variantiVAR_052335486M → T. Corresponds to variant dbSNP:rs17058153EnsemblClinVar.1
Natural variantiVAR_014125572D → N in DFNA36. 2 PublicationsCorresponds to variant dbSNP:rs121908072EnsemblClinVar.1
Natural variantiVAR_014126654M → V in DFNB7. 1 PublicationCorresponds to variant dbSNP:rs121908074EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF417578 mRNA Translation: AAL86399.1
AL591662 Genomic DNA No translation available.
AL162416 Genomic DNA No translation available.
AL590662 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62541.1
AK098607 mRNA Translation: BAC05351.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS6643.1

NCBI Reference Sequences

More...
RefSeqi
NP_619636.2, NM_138691.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297784; ENSP00000297784; ENSG00000165091
ENST00000340019; ENSP00000341433; ENSG00000165091
ENST00000645208; ENSP00000494684; ENSG00000165091

Database of genes from NCBI RefSeq genomes

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GeneIDi
117531

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:117531

UCSC genome browser

More...
UCSCi
uc004aiz.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF417578 mRNA Translation: AAL86399.1
AL591662 Genomic DNA No translation available.
AL162416 Genomic DNA No translation available.
AL590662 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62541.1
AK098607 mRNA Translation: BAC05351.1 Sequence problems.
CCDSiCCDS6643.1
RefSeqiNP_619636.2, NM_138691.2

3D structure databases

SMRiQ8TDI8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi125588, 3 interactors
IntActiQ8TDI8, 4 interactors
STRINGi9606.ENSP00000297784

Protein family/group databases

TCDBi1.A.17.4.15 the calcium-dependent chloride channel (ca-clc) family

PTM databases

iPTMnetiQ8TDI8
PhosphoSitePlusiQ8TDI8

Polymorphism and mutation databases

BioMutaiTMC1
DMDMi212286376

Proteomic databases

PaxDbiQ8TDI8
PeptideAtlasiQ8TDI8
PRIDEiQ8TDI8
ProteomicsDBi74293

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
117531
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297784; ENSP00000297784; ENSG00000165091
ENST00000340019; ENSP00000341433; ENSG00000165091
ENST00000645208; ENSP00000494684; ENSG00000165091
GeneIDi117531
KEGGihsa:117531
UCSCiuc004aiz.1 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
117531
DisGeNETi117531

GeneCards: human genes, protein and diseases

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GeneCardsi
TMC1
GeneReviewsiTMC1
HGNCiHGNC:16513 TMC1
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IF2J Eukaryota
ENOG410XTGF LUCA
GeneTreeiENSGT00970000193351
HOGENOMiHOG000231742
InParanoidiQ8TDI8
KOiK21988
OMAiITIWEAN
PhylomeDBiQ8TDI8
TreeFamiTF313462

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TMC1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TMC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
117531

Pharos

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Pharosi
Q8TDI8

Protein Ontology

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PROi
PR:Q8TDI8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165091 Expressed in 69 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiQ8TDI8 baseline and differential
GenevisibleiQ8TDI8 HS

Family and domain databases

InterProiView protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom
PANTHERiPTHR23302 PTHR23302, 1 hit
PfamiView protein in Pfam
PF07810 TMC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTMC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TDI8
Secondary accession number(s): A8MVZ2, B1AM91
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: July 22, 2008
Last modified: September 18, 2019
This is version 133 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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