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Aliases for TMC1 Gene

Aliases for TMC1 Gene

  • Transmembrane Channel Like 1 2 3 5
  • Transmembrane Cochlear-Expressed Protein 1 3 4
  • Transmembrane, Cochlear Expressed, 1 2 3
  • Transmembrane Channel-Like 1 3
  • DFNA36 3
  • DFNB11 3
  • DFNB7 3

External Ids for TMC1 Gene

Previous HGNC Symbols for TMC1 Gene

  • DFNA36
  • DFNB7
  • DFNB11

Previous GeneCards Identifiers for TMC1 Gene

  • GC09P066275
  • GC09P067087
  • GC09P068801
  • GC09P070688
  • GC09P070593
  • GC09P072366
  • GC09P074326
  • GC09P074211
  • GC09P075137
  • GC09P044959

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 deafness, autosomal dominant 36 and deafness, autosomal recessive 7. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is TMC4.

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

Regulatory Elements for TMC1 Gene

Genomic Location for TMC1 Gene

Chromosome:
9
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

Genes around TMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TMC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMC1 Gene

Domains & Families for TMC1 Gene

Gene Families for TMC1 Gene

Protein Domains for TMC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TDI8

UniProtKB/Swiss-Prot:

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

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.
genes like me logo Genes that share phenotypes with TMC1: view

Human Phenotype Ontology for TMC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMC1 Gene

MGI Knock Outs for TMC1:

Animal Model Products

miRNA for TMC1 Gene

miRTarBase miRNAs that target TMC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 4
endoplasmic reticulum 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TMC1 Gene

Pathways & Interactions 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 --
genes like me logo Genes that share ontologies with TMC1: view

No data available for Pathways by source and SIGNOR curated interactions for TMC1 Gene

Drugs & Compounds for TMC1 Gene

No Compound Related Data Available

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 (x7.4), Brain - Spinal cord (cervical c-1) (x4.2), Testis (x4.1), and Bladder (x4.0).

Protein differential expression in normal tissues from HIPED for TMC1 Gene

This gene is overexpressed in Vitreous humor (22.3), Colon muscle (21.2), Stomach (7.6), Breast (7.3), and Heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TMC1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for TMC1 Gene

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 (a)
OneToOne
TMC1 35
  • 99.39 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia TMC1 36
  • 96 (a)
OneToOne
TMC1 35
  • 91.74 (n)
  • 96.44 (a)
dog
(Canis familiaris)
Mammalia TMC1 35
  • 90.56 (n)
  • 96.16 (a)
TMC1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmc1 16
Tmc1 35
  • 88.61 (n)
  • 97.12 (a)
Tmc1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMC1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMC1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmc1 35
  • 89.78 (n)
  • 97.72 (a)
chicken
(Gallus gallus)
Aves TMC1 35
  • 72.45 (n)
  • 72.2 (a)
TMC1 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMC1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmc1 35
  • 69.58 (n)
  • 70.44 (a)
zebrafish
(Danio rerio)
Actinopterygii tmc1 36
  • 60 (a)
OneToOne
tmc1 35
  • 66.67 (n)
  • 67.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3280 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0416.1 37
  • 31 (a)
T13G4.3 37
  • 34 (a)
tmc-1 36
  • 19 (a)
ManyToMany
tmc-2 36
  • 19 (a)
ManyToMany
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

(2) 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
VAR_014125 Deafness, autosomal dominant, 36 (DFNA36)
VAR_014126 Deafness, autosomal recessive, 7 (DFNB7)
rs1796993 - 72,700,522(-) TTCTT(C/T)TTCTC reference, missense
rs11143384 - 72,740,177(+) GAAAA(A/C/T)GGTGG reference, missense
rs17058153 - 72,792,243(+) CAATA(C/T)GATCA reference, missense

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

Variation tolerance for TMC1 Gene

Residual Variation Intolerance Score: 24.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.48; 91.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMC1 Gene

HapMap Linkage Disequilibrium report
TMC1
Human Gene Mutation Database (HGMD)
TMC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMC1 Gene

Disorders for TMC1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for TMC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 36
  • deafness, autosomal dominant, 36
deafness, autosomal recessive 7
  • deafness, autosomal recessive, 7
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
dfna36 nonsyndromic hearing loss and deafness
  • dfna 36 nonsyndromic hearing loss and deafness
dfnb 7/11 nonsyndromic hearing loss and deafness
  • dfnb 11 nonsyndromic hearing loss and deafness
- elite association - COSMIC cancer census association via MalaCards
Search TMC1 in MalaCards View complete list of genes associated with diseases

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

Relevant External Links for TMC1

Genetic Association Database (GAD)
TMC1
Human Genome Epidemiology (HuGE) Navigator
TMC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMC1
genes like me logo Genes that share disorders with TMC1: view

No data available for Genatlas for TMC1 Gene

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 67
  2. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. (PMID: 20447146) Yang T. … Smith R.J. (Clin. Genet. 2010) 3 23
  3. Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. (PMID: 19180119) Hilgert N. … Van Camp G. (J. Hum. Genet. 2009) 3 23
  4. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. (PMID: 19187973) Sirmaci A. … Tekin M. (Int. J. Pediatr. Otorhinolaryngol. 2009) 3 23
  5. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. (PMID: 18616530) Hilgert N. … Van Camp G. (Clin. Genet. 2008) 3 23

Products for TMC1 Gene

Sources for TMC1 Gene

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