Tmie
entrez
20776
canonical
uniprot
Q8K467
canonical
ensembl
ENSMUSG00000049555
resolver
ensp
ENSMUSP00000060148
resolver
ensp
ENSMUSP00000194261
resolver
ensp
ENSMUSP00000194263
resolver
ensp
ENSMUSP00000194268
resolver
enst
ENSMUST00000050958
resolver
genesymbol
Tmie
resolver
uniprot
B2RSF0
resolver
uniprot_entry
B2RSF0_MOUSE
resolver
uniprot_entry
TMIE_MOUSE
resolver
amino_acid_sequence
MAGRQHGSGRLWALGGAALGACLAGVATQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAKMYTDKLETVPPLNELTEIPGEDKKKKKKDSVDTVAIKVEEDEKNEAKKKGEK
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Tmie are the cause of the spinner mutant strain phenotype (sr). This disorder results in hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear. It is recognized by behavioral dysfunction, including bidirectional circling and head shaking. Auditory function in spinner mice is found to be reduced, based upon the lack of a startle reflex to sound at any age. Breeding experiments indicated that these defects are inherited in an autosomal recessive fashion. The postnatal defects present in the cochleae of sr/sr mice suggest a requirement for Tmie during maturation of sensory cells, including the normal development or maintenance of stereocilia bundles. {ECO:0000269|PubMed:12140191}.
uniprot
proteins
function
FUNCTION: Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (PubMed:36191207). The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15 (PubMed:36191207). May contribute to the formation of the pore (PubMed:36191207). {ECO:0000269|PubMed:36191207}.
uniprot
proteins
mass_dalton
17027
uniprot
proteins
pubmed
12140191
uniprot
proteins
pubmed
28504928
uniprot
proteins
pubmed
36191207
uniprot
proteins
sequence_length
153
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 59..79; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins