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FLASH GENE
Symbol TMC1 contributors: mct/npt - updated : 12-12-2017
HGNC name transmembrane channel-like 1
HGNC id 16513
Corresponding disease
DFNA36 neurosensory deafness 36
DFNB7 neurosensory deafness 7
Location 9q21.12      Physical location : 75.136.716 - 75.451.267
Synonym name transmembrane, cochlear expressed, 1
Synonym symbol(s) DFNA36, DFNB11, DFNB7, DFNB11
DNA
TYPE functioning gene
STRUCTURE 314.55 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D9S1862 - D9S15 - D9S301 - D9S237 - TMEM2 - D9S1822 - ZFAND5 - [D9S1837 - D9S1876 - D9S1124 - ALDH1A1 ] - ANXA1 - D9S924 - D9S175 - D9S1122 - qter
Authors Kurima (02)
Text [TMC1 ]
Physical map
APBA1 9q13-q21 amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) LOC375743 9q21.13 similar to CG3073-PA LOC138255 9q21.13 similar to RIKEN cDNA 1700028P14 MAMDC2 9q21.2 MAM domain containing 2 RNU2P3 9q21.2 RNA, U2 small nuclear pseudogene 3 SMC5L1 9q21.11 SMC5 structural maintenance of chromosomes 5-like 1 (yeast) BTEB1 9q13 basic transcription element binding protein 1 TRPM3 9q21.13 transient receptor potential cation channel, subfamily M, member 3 LOC392348 9 similar to CDC91 cell division cycle 91-like 1; GPI transamidase component C9orf63 9q21.2 chromosome 9 open reading frame 63 TMEM2 9q13-q21 transmembrane protein 2 CGI-67 MGC61599 LOC392349 9 similar to Heat shock 27 kDa protein (HSP 27) (Stress-responsive protein 27) (SRP27) (Estrogen-regulated 24 kDa protein) (28 kDa heat shock protein) C9orf57 9q21.2 chromosome 9 open reading frame 57 LOC392350 9 similar to Transcription factor BTF3 (RNA polymerase B transcription factor 3) GDA 9q21.11-21.33 guanine deaminase ZNF216 9q21.11 zinc finger protein 216 TMC1 9q13-q21 transmembrane, cochlear expressed, 1 ALDH1A1 9q21.1 aldehyde dehydrogenase 1 family, member A1 ANXA1 9q13-q21.2 annexin A1 LOC392351 9 similar to tMDC I LOC138971 9q21.31 similar to dipeptidylpeptidase III isoform 1; dipeptidylpeptidase III LOC138972 9q21.31 similar to Centaurin gamma 2 RORB 9q22 RAR-related orphan receptor B TRPM6 9q21.13 transient receptor potential cation channel, subfamily M, member 6 C9orf40 9q21.31 chromosome 9 open reading frame 40 C9orf41 9q21.31 chromosome 9 open reading frame 41 FLJ20559 9q21.31 hypothetical protein FLJ20559 OSTF1 12q24.1-q24.2 osteoclast stimulating factor 1 LOC138932 9q21.31 similar to Hkr1p
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 3201 87.6 760 - Kalay (2005)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea  
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticplasma   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal, pregnancy
Text cochlea, placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • at least eight membrane-spanning domains
  • HOMOLOGY
    interspecies ortholog to murine Tmc1
    Homologene
    FAMILY
  • TMC family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • required for normal function of cochlear hair cells
  • LHFPL5, TMIE, TMC1, and TMC2 have so far been linked to the transduction channel
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PCDH15 interacts with transmembrane channel-like proteins TMC1 and TMC2
  • both LHFPL5 and TMC1 were shown to interact with PCDH15, a component of the tip link, which applies force to the mechanotransducer (MT) channel
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNB7 , DFNA36
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Bth mouse (Beethoven mouse mutant)