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Details on Person UniProt:Q8TAF8 LHFPL5
| Class:Id | ReferenceGeneProduct:251948 |
|---|---|
| _chainChangeLog | chain:1-219 added on Fri February 6 2015 |
| _displayName | UniProt:Q8TAF8 LHFPL5 |
| _timestamp | 2024-08-09 18:53:09 |
| chain | chain:1-219 |
| checksum | 1972C1A8F0FAE545 |
| comment | FUNCTION Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of the shorter stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. 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. Functionally couples PCDH15 to the transduction channel.SUBUNIT Forms the MET channel composed of TMC (TMC1 or TMC2), TMIE, TOMT, CIB (CIB2 or CIB3), LHPL5 and PCDH15. Interaction with PCDH15 is required for efficient localization to hair bundles.INTERACTION Efficient localization to the plasma membrane requires the presence of PCDH15.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the LHFP family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="8"LHFPL tetraspan subfamily member 5 protein alternativeName: fullName evidence="8"Lipoma HMGIC fusion partner-like 5 protein alternativeName: fullName evidence="1"Tetraspan membrane protein of hair cell stereocilia |
| geneName | LHFPL5 TMHS |
| identifier | Q8TAF8 |
| isSequenceChanged | FALSE |
| keyword | Cell membrane Deafness Disease variant Ion transport Membrane Non-syndromic deafness Reference proteome Transmembrane Transmembrane helix Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 |
| name | LHFPL5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9000914] ENSEMBL:ENSG00000197753 LHFPL5 [Homo sapiens] |
| secondaryIdentifier | LHPL5_HUMAN B3KX66 |
| sequenceLength | 219 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:9658860] LHFPL5 [plasma membrane] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8TAF8 LHFPL5 (251948)
