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transmembrane cochlear-expressed protein 1; transmembrane channel-like protein 1 (TMC1)
Function:
- involved in normal function of cochlear hair cells
- forms the pore that carries hair cell signals [2]
Structure: belongs to the TMC family
Compartment: membrane (putative)
Expression: expressed in fetal cochlea > placenta, testis
Pathology:
- defects in TMC1 are associated with
a) autosomal dominant neurosensory deafness 36
b) autosomal recessive neurosensory deafness 7
General
transmembrane 6 protein
Properties
SIZE: entity length = 760 aa
MW = 88 kD
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-199}
MOTIF: lysine-rich region {4-178}
MOTIF: lysine residue (SEVERAL)
transmembrane domain {200-220}
exoplasmic loop {221-272}
transmembrane domain {273-293}
cytoplasmic loop {294-365}
transmembrane domain {366-386}
exoplasmic loop {387-440}
transmembrane domain {441-461}
cytoplasmic loop {462-634}
transmembrane domain {635-655}
exoplasmic loop {656-699}
transmembrane domain {700-720}
cytoplasmic domain {721-760}
MOTIF: alanine-rich region {749-757}
MOTIF: alanine residue (SEVERAL)
Database Correlations
OMIM correlations
MORBIDMAP 606706
UniProt Q8TDI8
Pfam PF07810
Entrez Gene 117531
Kegg hsa:117531
References
- UniProt :accession Q8TDI8
- Pan B, Akyuz N, Liu XP, et al.
TMC1 forms the pore of mechanosensory transduction channels in
vertebrate inner ear hair cells.
Neuron 2018 Aug 22; 99:736
PMID: 30138589