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Details on Person UniProt:Q8K467 Tmie
| Class:Id | ReferenceGeneProduct:251952 |
|---|---|
| _chainChangeLog | signal peptide:1-28 added on Fri February 6 2015;chain:29-153 added on Fri February 6 2015 |
| _displayName | UniProt:Q8K467 Tmie |
| _timestamp | 2024-08-09 18:48:06 |
| chain | signal peptide:1-28 chain:29-153 |
| checksum | 2B22474B275CBBD8 |
| comment | 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).SUBUNIT Forms the MET channel composed of TMC (TMC1 or TMC2), TMIE, TOMT, CIB (CIB2 or CIB3), LHPL5 and PCDH15.SUBCELLULAR LOCATION Expressed in brain, kidney, liver, lung and cochlea.DEVELOPMENTAL STAGE Required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles.DISEASE 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. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Transmembrane inner ear expressed protein |
| geneName | Tmie |
| identifier | Q8K467 |
| isSequenceChanged | FALSE |
| keyword | Deafness Membrane Reference proteome Signal Transmembrane Transmembrane helix |
| modified | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:4341137] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:8856987] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 |
| name | Tmie |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | TMIE_MOUSE |
| sequenceLength | 153 |
| species | [Species:48892] Mus musculus |
| (referenceEntity) | [EntityWithAccessionedSequence:9658857] Tmie [plasma membrane] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q8K467 Tmie (251952)
