Version 5.4
Homo sapiens Protein: LOXHD1
Summary
InnateDB Protein IDBP-232363.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LOXHD1
Protein Name lipoxygenase homology domains 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000381692
InnateDB Gene IDBG-2961 (LOXHD1)
Protein Structure
UniProt Annotation
Function Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity). {ECO:0000250}.
Subcellular Localization Cell projection, stereocilium {ECO:0000250}.
Disease Associations Deafness, autosomal recessive, 77 (DFNB77) [MIM:613079]: A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid- frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. {ECO:0000269PubMed:19732867}. 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 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005262 calcium channel activity
GO:0005515 protein binding
Biological Process
GO:0007605 sensory perception of sound
GO:0050982 detection of mechanical stimulus
GO:0070588 calcium ion transmembrane transport
Cellular Component
GO:0016020 membrane
GO:0032420 stereocilium
Protein Structure and Domains
PDB ID
InterPro IPR001024 PLAT/LH2 domain
IPR008976 Lipase/lipooxygenase, PLAT/LH2
PFAM PF01477
PRINTS
PIRSF
SMART SM00308
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IVV2
PhosphoSite PhosphoSite-Q8IVV2
TrEMBL C9J269
UniProt Splice Variant
Entrez Gene 125336
UniGene Hs.345877
RefSeq NP_001166600
HUGO HGNC:26521
OMIM 613072
CCDS CCDS54184
HPRD 08316
IMGT
EMBL AC018931 AC064800 AC091139 AK057232 AK127869 BC041860 BC047720 CH471088
GenPept AAH41860 AAH47720 BAB71390 EAX01479 EAX01480

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