LHFPL5
entrez
222662
canonical
uniprot
Q8TAF8
canonical
ensembl
ENSG00000197753
resolver
ensp
ENSP00000353346
resolver
ensp
ENSP00000498322
resolver
ensp
ENSP00000498699
resolver
enst
ENST00000360215
resolver
enst
ENST00000651132
resolver
enst
ENST00000651676
resolver
genesymbol
LHFPL5
resolver
genesymbol_syn
TMHS
resolver
hgnc
HGNC:21253
resolver
uniprot
B3KX66
resolver
uniprot_entry
LHPL5_HUMAN
resolver
uniprot_sec
B3KX66
resolver
amino_acid_sequence
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:16459341, ECO:0000269|PubMed:16752389, ECO:0000269|PubMed:26437881, ECO:0000269|PubMed:28281779}. Note=The disease is caused by variants affecting the gene represented in this entry.
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. 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. {ECO:0000250|UniProtKB:Q4KL25}.
uniprot
proteins
mass_dalton
24201
uniprot
proteins
protein_family
LHFP family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16459341
uniprot
proteins
pubmed
16752389
uniprot
proteins
pubmed
26437881
uniprot
proteins
pubmed
28281779
uniprot
proteins
sequence_length
219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q4KL25}; Multi-pass membrane protein {ECO:0000255}. Note=Efficient localization to the plasma membrane requires the presence of PCDH15. {ECO:0000250|UniProtKB:Q4KL25}.
uniprot
proteins
transmembrane_region
TRANSMEM 25..45; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 100..120; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 129..149; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 179..199; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins