ENSMUSG00000024749


Mus musculus

Features
Gene ID: ENSMUSG00000024749
  
Biological name :Tmc1
  
Synonyms : Q8R4P5 / Tmc1 / Transmembrane channel-like protein 1
  
Possible biological names infered from orthology : Q8TDI8 / transmembrane channel like 1
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: B
Gene start: 20783458
Gene end: 20954202
  
Corresponding Affymetrix probe sets: 10466636 (MoGene1.0st)   1421625_a_at (Mouse Genome 430 2.0 Array)   1421626_at (Mouse Genome 430 2.0 Array)   1430818_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000040859
NCBI entrez gene - 13409     See in Manteia.
MGI - MGI:2151016
RefSeq - NM_028953
RefSeq - XM_006526640
RefSeq Peptide - NP_083229
swissprot - Q8R4P5
Ensembl - ENSMUSG00000024749
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tmc1ENSDARG00000056386Danio rerio
 TMC1ENSGALG00000015145Gallus gallus
 TMC1ENSG00000165091Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tmc2 / Q8R4P4 / Transmembrane channel-like protein 2 / Q8TDI7* / transmembrane channel like 2*ENSMUSG0000006033256
Tmc3 / transmembrane channel like 3 / Q7Z5M5*ENSMUSG0000003854038
Tmc7 / Q8C428 / Transmembrane channel-like protein 7 / Q7Z402* / transmembrane channel like 7*ENSMUSG0000004224621
Tmc4 / transmembrane channel like 4ENSMUSG0000001973420
Tmc6 / Q7TN60 / transmembrane channel-like gene family 6 / Q7Z403* / transmembrane channel like 6*ENSMUSG0000002557219
Tmc8 / Q7TN58 / Transmembrane channel-like protein 8 / Q8IU68* / transmembrane channel like 8*ENSMUSG0000005010619
Tmc5 / Q32NZ6 / Transmembrane channel-like protein 5 / Q6UXY8* / transmembrane channel like 5*ENSMUSG0000003065018


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 IMP
 biological_processGO:0060005 vestibular reflex IMP
 biological_processGO:0060117 auditory receptor cell development IMP
 biological_processGO:0070588 calcium ion transmembrane transport IMP
 biological_processGO:1903169 regulation of calcium ion transmembrane transport IMP
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0009897 external side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032426 stereocilium tip IDA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008381 mechanosensitive ion channel activity IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000032 cochlear degeneration "a retrogressive impairment of function or destruction of the part of the inner ear forms the anterior part of the labyrinth, is conical, and is concerned with hearing" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

 MP:0000048 abnormal stria vascularis "anomalous structure of the layer of highly vascularized pigmented granular cells on the outer wall of the cochlear duct" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Tmc1dn/Tmc1dn
Genetic Background: involves: STOCK Grhl3ct * M. m. molossinus

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

 MP:0001963 abnormal hearing "anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Tmc1dn/Tmc1dn
Genetic Background: involves: STOCK Grhl3ct * M. m. molossinus

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Tmc1Mhdabth/Tmc1+
Genetic Background: C3HeB/FeJ-Tmc1Mhdabth/Ieg

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m1C57BL/6J/?
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m2DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m3DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m4DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0002102 abnormal ear morphology "structural or developmental anomaly of any of the structures involved in the ear or vestibular system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Tmc1dn/Tmc1dn
Genetic Background: involves: STOCK Grhl3ct * M. m. molossinus

 MP:0002857 cochlear ganglion degeneration "loss of neural cell bodies in the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0003149 abnormal tectorial membrane morphology "malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0003169 abnormal scala media morphology "any malformation or absence of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)" [J:23837, J:46972, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0003879 abnormal hair cell physiology "anomolous function of the sensory epithelial cells of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:100987]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004300 abnormal supporting cell morphology "any structural abnormality in the highly differentiated epithelial cells with distinctive morphological features surrounding the hair cells in the organ of Corti; inner hair cells (IHCs) are normally surrounded by (inner and outer) phalangeal cells while OHCs are in contact with Deiters and pillar cells; Hensen cells are positioned further laterally in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

 MP:0004302 abnormal Dieters cell morphology "any structural abnormality in the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

 MP:0004331 saccular macula degeneration "degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004431 abnormal hair cell mechanoelectric transduction "anomalous conversion of mechanical energy into electric(al) energy by sensory cells, such as auditory and vestibular hair cells, required for auditory sensation" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2+
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004432 abnormal cochlear hair cell physiology "anomalies in processes pertinent to the integrated function of cochlear hair cells i.e. the sensory cells in the spiral organ which are in synaptic contact with sensory as well as efferent fibers of the cochlear (auditory) nerve " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0004527 abnormal outer hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

 MP:0004628 Dieters cell degeneration "degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m1C57BL/6J/?
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m2DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m3DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

Allelic Composition: Tmc1Mhdabth/Tmc1+,Tmc1m4DBA/2J/?
Genetic Background: involves: C3HeB/FeJ * DBA/2J

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Egr2tm2(cre)Pch/Egr2+,Erbb2tm1Cbm/Erbb2tm2Cbm
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Grin2btm1.1Jwhe/Grin2btm1.1Jwhe
Genetic Background: B6JBomTac.129P2-Grin2btm1.1Jwhe

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: C57BL/6

Allelic Composition: Tmc1stitch/Tmc1stitch
Genetic Background: involves: BALB/c * C57BL/6

Allelic Composition: Tmc1baringo/Tmc1baringo
Genetic Background: involves: C57BL/6

 MP:0011039 abnormal vestibuloocular dark reflex "any anomaly in the nystagmus or deviation of the eyes in response to stimulation of the vestibular system when the test is run without light" [MGI:smb]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1+,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg
Genetic Background: B6.129-Tmc1tm1.1Ajg

Allelic Composition: Tmc1tm1.1Ajg/Tmc1tm1.1Ajg,Tmc2tm1.1Ajg/Tmc2tm1.1Ajg
Genetic Background: B6.129-Tmc2tm1.1Ajg Tmc1tm1.1Ajg

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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