Version 5.4
Homo sapiens Protein: LCA5
Summary
InnateDB Protein IDBP-93484.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LCA5
Protein Name Leber congenital amaurosis 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358861
InnateDB Gene IDBG-93482 (LCA5)
Protein Structure
UniProt Annotation
Function Might be involved in minus end-directed microtubule transport.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:17546029}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:17546029}. Note=In non- ciliated cells, localizes to the centrosome and its associated microtubule array.
Disease Associations Leber congenital amaurosis 5 (LCA5) [MIM:604537]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:17546029, ECO:0000269PubMed:18000884, ECO:0000269PubMed:18334959}. 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:0005515 protein binding
GO:0032403 protein complex binding
Biological Process
GO:0015031 protein transport
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005929 cilium
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q86VQ0
PhosphoSite PhosphoSite-Q86VQ0
TrEMBL A7X9N5
UniProt Splice Variant
Entrez Gene 167691
UniGene Hs.617148
RefSeq NP_001116241
HUGO HGNC:31923
OMIM 611408
CCDS CCDS4990
HPRD 10791
IMGT
EMBL AL391840 BC050327 CH471051 EU051380 EU113296 EU113297 EU113298
GenPept AAH50327 ABU63588 ABU63589 ABU63590 ABU63591 CAC37303 EAW48705 EAW48706

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