Version 5.4
Mus musculus Protein: Lhfpl5
Summary
InnateDB Protein IDBP-158705.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Lhfpl5
Protein Name lipoma HMGIC fusion partner-like 5
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000079598
InnateDB Gene IDBG-158703 (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. {ECO:0000269PubMed:15905332, ECO:0000269PubMed:23217710}.
Subcellular Localization Cell membrane {ECO:0000269PubMed:23217710}; Multi-pass membrane protein {ECO:0000269PubMed:23217710}. Note=Efficient localization to the plasma membrane requires the presence of PCDH15.
Disease Associations 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.
Tissue Specificity Brain, inner ear hair cells and vestibular neuroepithelia of the inner ear. In inner ear, expressed in stereocilia in a punctate pattern and at the tip-link region (at protein level). {ECO:0000269PubMed:15905332, ECO:0000269PubMed:16459341, ECO:0000269PubMed:23217710}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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
Protein Structure and Domains
PDB ID MGI:1915382
InterPro IPR019372 Lipoma HMGIC fusion partner-like protein
PFAM PF10242
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q4KL25
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 328789
UniGene Mm.284760
RefSeq NP_080847
MGI ID
MGI Symbol Lhfpl5
OMIM
CCDS CCDS37530
HPRD
IMGT
EMBL BC099483 CT009661
GenPept AAH99483 CAQ52029

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca