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Aliases for TMC1 Gene

Aliases for TMC1 Gene

  • Transmembrane Channel-Like 1 2 3
  • Transmembrane Cochlear-Expressed Protein 1 3 4
  • Transmembrane, Cochlear Expressed, 1 2 3
  • DFNA36 3 6
  • DFNB11 3 6
  • DFNB7 3 6
  • Transmembrane Channel-Like Protein 1 3

External Ids for TMC1 Gene

Previous Symbols for TMC1 Gene

  • DFNA36
  • DFNB7
  • DFNB11

Summaries for TMC1 Gene

Entrez Gene Summary for TMC1 Gene

  • This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

GeneCards Summary for TMC1 Gene

TMC1 (Transmembrane Channel-Like 1) is a Protein Coding gene. Diseases associated with TMC1 include toxic megacolon and deafness, autosomal recessive 7. An important paralog of this gene is TMC7.

UniProtKB/Swiss-Prot for TMC1 Gene

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

Gene Wiki entry for TMC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMC1 Gene

Genomics for TMC1 Gene

Genomic Location for TMC1 Gene

Start:
72,521,801 bp from pter
End:
72,836,351 bp from pter
Size:
314,551 bases
Orientation:
Plus strand

Genomic View for TMC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMC1 Gene

Regulatory Elements for TMC1 Gene

Proteins for TMC1 Gene

  • Protein details for TMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDI8-TMC1_HUMAN
    Recommended name:
    Transmembrane channel-like protein 1
    Protein Accession:
    Q8TDI8
    Secondary Accessions:
    • A8MVZ2
    • B1AM91

    Protein attributes for TMC1 Gene

    Size:
    760 amino acids
    Molecular mass:
    87768 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05351.1; Type=Erroneous termination; Positions=744; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAC05351.1; Type=Frameshift; Positions=588; Evidence={ECO:0000305};

neXtProt entry for TMC1 Gene

Proteomics data for TMC1 Gene at MOPED

Post-translational modifications for TMC1 Gene

No Post-translational modifications

Other Protein References for TMC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMC1 Gene

Domains for TMC1 Gene

Protein Domains for TMC1 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TMC1_HUMAN
Family:
  • Belongs to the TMC family.:
    • Q8TDI8
genes like me logo Genes that share domains with TMC1: view

No data available for Gene Families for TMC1 Gene

Function for TMC1 Gene

Molecular function for TMC1 Gene

UniProtKB/Swiss-Prot Function: Probable ion channel required for the normal function of cochlear hair cells.

Gene Ontology (GO) - Molecular Function for TMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005245 voltage-gated calcium channel activity IEA --
genes like me logo Genes that share ontologies with TMC1: view
genes like me logo Genes that share phenotypes with TMC1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TMC1 Gene

Localization for TMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMC1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMC1 Gene COMPARTMENTS Subcellular localization image for TMC1 gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032426 stereocilium bundle tip IEA --
genes like me logo Genes that share ontologies with TMC1: view

Pathways for TMC1 Gene

SuperPathways for TMC1 Gene

No Data Available

Interacting Proteins for TMC1 Gene

Selected Interacting proteins: Q8TDI8-TMC1_HUMAN for TMC1 Gene via I2D

Gene Ontology (GO) - Biological Process for TMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA --
GO:0060005 vestibular reflex IEA --
GO:0060117 auditory receptor cell development IEA --
GO:0070588 calcium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with TMC1: view

No data available for Pathways by source for TMC1 Gene

Transcripts for TMC1 Gene

mRNA/cDNA for TMC1 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMC1 Gene

Transmembrane channel-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMC1 Gene

No ASD Table

Relevant External Links for TMC1 Gene

GeneLoc Exon Structure for
TMC1
ECgene alternative splicing isoforms for
TMC1

Expression for TMC1 Gene

mRNA expression in normal human tissues for TMC1 Gene

mRNA differential expression in normal tissues according to GTEx for TMC1 Gene

This gene is overexpressed in Esophagus - Mucosa (7.4), Brain - Spinal cord (cervical c-1) (4.2), Testis (4.1), and Bladder (4.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TMC1 Gene

SOURCE GeneReport for Unigene cluster for TMC1 Gene Hs.670211

mRNA Expression by UniProt/SwissProt for TMC1 Gene

Q8TDI8-TMC1_HUMAN
Tissue specificity: Detected in fetal cochlea, and at low levels in placenta and testis
genes like me logo Genes that share expressions with TMC1: view

Orthologs for TMC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMC1 36
  • 99.39 (n)
  • 99.34 (a)
TMC1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMC1 36
  • 91.74 (n)
  • 96.44 (a)
TMC1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMC1 36
  • 90.56 (n)
  • 96.16 (a)
TMC1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmc1 36
  • 88.61 (n)
  • 97.12 (a)
Tmc1 16
Tmc1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC1 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMC1 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmc1 36
  • 89.78 (n)
  • 97.72 (a)
chicken
(Gallus gallus)
Aves TMC1 36
  • 72.45 (n)
  • 72.2 (a)
TMC1 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC1 37
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc1 36
  • 69.58 (n)
  • 70.44 (a)
zebrafish
(Danio rerio)
Actinopterygii tmc1 36
  • 66.67 (n)
  • 67.18 (a)
tmc1 37
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3280 37
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tmc-1 37
  • 19 (a)
ManyToMany
tmc-2 37
  • 19 (a)
ManyToMany
T13G4.3 38
  • 34 (a)
B0416.1 38
  • 31 (a)
Species with no ortholog for TMC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMC1 Gene

ENSEMBL:
Gene Tree for TMC1 (if available)
TreeFam:
Gene Tree for TMC1 (if available)

Paralogs for TMC1 Gene

Paralogs for TMC1 Gene

Selected SIMAP similar genes for TMC1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMC1: view

Variants for TMC1 Gene

Sequence variations from dbSNP and Humsavar for TMC1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs16764 -- 72,591,477(-) TTACC(C/T)GGGCT intron-variant
rs17095 -- 72,591,421(-) tctac(A/G)gtgaa intron-variant
rs746786 -- 72,752,688(+) TTGGA(C/T)TAGGT intron-variant
rs895080 -- 72,753,609(-) TGCCC(C/T)TCAGC intron-variant
rs920901 -- 72,614,332(+) AAGCT(A/G)TTAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMC1 Gene

Variant ID Type Subtype PubMed ID
nsv831619 CNV Loss 17160897
nsv831620 CNV Loss 17160897
nsv893447 CNV Gain 21882294
nsv893448 CNV Gain 21882294
esv2652527 CNV Insertion 19546169
esv271909 CNV Insertion 20981092
esv273406 CNV Insertion 20981092
esv1000190 CNV Insertion 20482838
esv268860 CNV Insertion 20981092
esv273677 CNV Insertion 20981092
nsv893449 CNV Gain 21882294
esv2738550 CNV Deletion 23290073
nsv416490 CNV Insertion 16902084
esv272215 CNV Insertion 20981092
esv271369 CNV Insertion 20981092
nsv527600 CNV Loss 19592680
nsv893450 CNV Gain 21882294
esv270202 CNV Insertion 20981092

Relevant External Links for TMC1 Gene

HapMap Linkage Disequilibrium report
TMC1
Human Gene Mutation Database (HGMD)
TMC1
Locus Specific Mutation Databases (LSDB)
TMC1

Disorders for TMC1 Gene

(2) OMIM Diseases for TMC1 Gene (606706)

UniProtKB/Swiss-Prot

TMC1_HUMAN
  • 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. {ECO:0000269 PubMed:11850618}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(3) Novoseek inferred disease relationships for TMC1 Gene

Disease -log(P) Hits PubMed IDs
dfna36 99.3 12
dfnb7 98.7 12
hearing loss sensorineural 63.9 2

Relevant External Links for TMC1

Genetic Association Database (GAD)
TMC1
Human Genome Epidemiology (HuGE) Navigator
TMC1
genes like me logo Genes that share disorders with TMC1: view

Publications for TMC1 Gene

  1. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. (PMID: 11850618) Kurima K. … Griffith A.J. (Nat. Genet. 2002) 2 3 4 23
  2. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. (PMID: 15605408) Meyer C.G. … Horstmann R.D. (Hum. Mutat. 2005) 3 23 49
  3. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. (PMID: 16287143) Kalay E. … Kremer H. (Hum. Mutat. 2005) 3 23
  4. TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins. (PMID: 12812529) Keresztes G. … Heller S. (BMC Genomics 2003) 3 23
  5. Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. (PMID: 17877751) Kitajiri S.I. … Griffith A.J. (Clin. Genet. 2007) 3 23

Products for TMC1 Gene

Sources for TMC1 Gene

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