Gene Set: DEN_INTERACT_WITH_LCA5

Standard name DEN_INTERACT_WITH_LCA5
Systematic name M1380
Brief description Proteins shown to interact with LCA5 [GeneID=167691] in vivo.
Full description or abstract Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. Using tandem affinity purification, we identified 24 proteins that link lebercilin to centrosomal and ciliary functions. Members of this interactome represent candidate genes for LCA and other ciliopathies. Our findings emphasize the emerging role of disrupted ciliary processes in the molecular pathogenesis of LCA.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17546029   Authors: den Hollander AI,Koenekoop RK,Mohamed MD,Arts HH,Boldt K,Towns KV,Sedmak T,Beer M,Nagel-Wolfrum K,McKibbin M,Dharmaraj S,Lopez I,Ivings L,Williams GA,Springell K,Woods CG,Jafri H,Rashid Y,Strom TM,van der Zwaag B,Gosens I,Kersten FF,van Wijk E,Veltman JA,Zonneveld MN,van Beersum SE,Maumenee IH,Wolfrum U,Cheetham ME,Ueffing M,Cremers FP,Inglehearn CF,Roepman R
Exact source Table 1
Related gene sets (show 6 gene sets from the same authors)
External links  
Organism Homo sapiens
Contributed by Jessica Robertson (Broad Institute)
Source platform EntrezGeneIds
Dataset references  
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps (show collections to investigate for overlap with this gene set)
Compendia expression profiles Human tissue compendium (Novartis)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 26 genes
Gene families Categorize these 26 genes by gene family
Show members (show 26 members mapped to 26 genes)
Version history 3.1: First introduced

See MSigDB license terms here. Please note that certain gene sets have special access terms.