Lhfpl5
entrez
328789
canonical
uniprot
Q4KL25
canonical
ensembl
ENSMUSG00000062252
resolver
ensp
ENSMUSP00000079598
resolver
ensp
ENSMUSP00000156557
resolver
ensp
ENSMUSP00000156959
resolver
enst
ENSMUST00000080780
resolver
enst
ENSMUST00000232862
resolver
enst
ENSMUST00000232974
resolver
genesymbol
Lhfpl5
resolver
genesymbol_syn
Tmhs
resolver
uniprot
B2KF30
resolver
uniprot
B2RWL4
resolver
uniprot_entry
B2RWL4_MOUSE
resolver
uniprot_entry
LHPL5_MOUSE
resolver
uniprot_sec
B2KF30
resolver
amino_acid_sequence
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVSTPQAGYFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALAMFLIIGSIICFSLFFVCNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGNEEV
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:15905332}.
uniprot
proteins
function
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). {ECO:0000269|PubMed:15905332, ECO:0000269|PubMed:23217710, ECO:0000269|PubMed:36191207}.
uniprot
proteins
mass_dalton
24186
uniprot
proteins
protein_family
LHFP family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15905332
uniprot
proteins
pubmed
16459341
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
23217710
uniprot
proteins
pubmed
25467981
uniprot
proteins
pubmed
26964900
uniprot
proteins
pubmed
28504928
uniprot
proteins
pubmed
36191207
uniprot
proteins
sequence_length
219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23217710}; Multi-pass membrane protein {ECO:0000255}. Note=Efficient localization to the plasma membrane requires the presence of PCDH15. {ECO:0000269|PubMed:23217710}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..45; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 99..119; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 129..149; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 179..199; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins