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Details on Person UniProt:Q4KL25 Lhfpl5
| Class:Id | ReferenceGeneProduct:251949 |
|---|---|
| _chainChangeLog | chain:1-219 added on Fri February 6 2015 |
| _displayName | UniProt:Q4KL25 Lhfpl5 |
| _timestamp | 2024-08-09 18:53:09 |
| chain | chain:1-219 |
| checksum | 9BFC49260AE9DD02 |
| 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 (PubMed:15905332, PubMed:23217710, 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:23217710, PubMed:36191207). Functionally couples PCDH15 to the transduction channel (PubMed:23217710).SUBUNIT Forms the MET channel composed of TMC (TMC1 or TMC2), TMIE, TOMT, CIB (CIB2 or CIB3), LHPL5 and PCDH15 (PubMed:23217710, PubMed:25467981, PubMed:28504928). Interaction with PCDH15 is required for efficient localization to hair bundles (PubMed:23217710).SUBCELLULAR LOCATION Efficient localization to the plasma membrane requires the presence of PCDH15.TISSUE SPECIFICITY Brain, inner ear hair cells and vestibular neuroepithelia of the inner ear (PubMed:15905332, PubMed:16459341, PubMed:23217710). In inner ear, expressed in stereocilia in a punctate pattern and at the tip-link region (at protein level) (PubMed:15905332, PubMed:16459341, PubMed:23217710). Strongly expressed in brain (PubMed:26964900). Weakly expressed in heart, testis and intestine (PubMed:26964900).DEVELOPMENTAL STAGE Expressed in inner ear hair cells at 16.5 dpc. Expressed postnatally in inner and outer hair cells of the cochlear, as well as in vestibular hair cells. At the cochlear apex, levels are low at P1 and increased thereafter. After P7, hardly detectable at the protein level, while mRNA levels remains high in adult hair cells.DISEASE Defects in Lhfpl5 are the cause of the hurry-scurry (hscy) phenotype which is characterized by rapid circling behavior, frequent shaking of head from side to side, deafness and vestibular dysfunction.SIMILARITY Belongs to the LHFP family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="1"LHFPL tetraspan subfamily member 5 protein alternativeName: fullName evidence="12"Lipoma HMGIC fusion partner-like 5 protein alternativeName: fullName evidence="10"Tetraspan membrane protein of hair cell stereocilia |
| geneName | Lhfpl5 Tmhs |
| identifier | Q4KL25 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Cell membrane Disease variant Ion transport Membrane Reference proteome Transmembrane Transmembrane helix Transport |
| 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:9027688] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9627708] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9715482] Weiser, JD [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 |
| name | Lhfpl5 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | LHPL5_MOUSE B2KF30 |
| sequenceLength | 219 |
| species | [Species:48892] Mus musculus |
| (referenceEntity) | [EntityWithAccessionedSequence:9658855] Lhfpl5 [plasma membrane] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q4KL25 Lhfpl5 (251949)
