Homo sapiens Gene: LHFPL5
Summary
InnateDB Gene IDBG-84406.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LHFPL5
Gene Name lipoma HMGIC fusion partner-like 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000197753
Encoded Proteins
lipoma HMGIC fusion partner-like 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:35805293-35833874
Strand Forward strand
Band p21.31
Transcripts
ENST00000360215 ENSP00000353346
ENST00000496656
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.367947
RefSeq NM_182548
HUGO
OMIM
CCDS CCDS4812
HPRD 13989
IMGT
EMBL
GenPept
RNA Seq Atlas