InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LHFPL5

Summary

InnateDB Protein

IDBP-84410.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LHFPL5

Protein Name

lipoma HMGIC fusion partner-like 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000353346

InnateDB Gene

IDBG-84406 (LHFPL5)

Protein Structure

UniProt Annotation

Function

In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Efficient localization to the plasma membrane requires the presence of PCDH15. {ECO:0000250}.

Disease Associations

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:0000269PubMed:16459341, ECO:0000269PubMed:16752389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006811	ion transport
GO:0007605	sensory perception of sound
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
GO:0060088	auditory receptor cell stereocilium organization

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0032421	stereocilium bundle
GO:0032426	stereocilium bundle tip