ENSG00000165091


Homo sapiens

Features
Gene ID: ENSG00000165091
  
Biological name :TMC1
  
Synonyms : Q8TDI8 / TMC1 / transmembrane channel like 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q21.13
Gene start: 72521608
Gene end: 72838230
  
Corresponding Affymetrix probe sets: 1564591_a_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494684
Ensembl peptide - ENSP00000496159
Ensembl peptide - ENSP00000297784
Ensembl peptide - ENSP00000341433
Ensembl peptide - ENSP00000493698
Ensembl peptide - ENSP00000493726
Ensembl peptide - ENSP00000493816
Ensembl peptide - ENSP00000493838
NCBI entrez gene - 117531     See in Manteia.
OMIM - 606706
RefSeq - NM_138691
RefSeq - XM_017014256
RefSeq Peptide - NP_619636
swissprot - Q8TDI8
Ensembl - ENSG00000165091
  
Related genetic diseases (OMIM): 600974 - Deafness, autosomal recessive 7, 600974
  606705 - Deafness, autosomal dominant 36, 606705
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tmc1ENSDARG00000056386Danio rerio
 TMC1ENSGALG00000015145Gallus gallus
 Tmc1ENSMUSG00000024749Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TMC2 / Q8TDI7 / transmembrane channel like 2ENSG0000014948857
TMC3 / Q7Z5M5 / transmembrane channel like 3ENSG0000018886938
TMC7 / Q7Z402 / transmembrane channel like 7ENSG0000017053721
TMC4 / transmembrane channel like 4ENSG0000016760821
TMC6 / Q7Z403 / transmembrane channel like 6ENSG0000014152419
TMC8 / Q8IU68 / transmembrane channel like 8ENSG0000016789519
TMC5 / Q6UXY8 / transmembrane channel like 5ENSG0000010353418


Protein motifs (from Interpro)
Interpro ID Name
 IPR012496  TMC domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IEA
 biological_processGO:0060005 vestibular reflex IEA
 biological_processGO:0060117 auditory receptor cell development IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:1903169 regulation of calcium ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032426 stereocilium tip IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0008381 mechanosensitive ion channel activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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