Property Summary

NCBI Gene PubMed Count 24
Grant Count 5
R01 Count 5
Funding $532,899.01
PubMed Score 16.70
PubTator Score 24.33

Knowledge Summary

Patent

No data available

Expression

Gene RIF (11)

PMID Text
24144451 This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations.
23946133 Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa.
21850168 A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.
19800048 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
19503738 Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions
19172513 This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans
19172513 Observational study of gene-disease association. (HuGE Navigator)
18334959 This is the second report of LCA5 mutations causing Leber congenital amaurosis.
18000884 Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%).
17546029 The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.
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AA Sequence

MGERAGSPGTDQERKAGKHHYSYLSDFETPQSSGRSSLVSSSPASVRRKNPKRQTSDGQVHHQAPRKPSP      1 - 70
KGLPNRKGVRVGFRSQSLNREPLRKDTDLVTKRILSARLLKINELQNEVSELQVKLAELLKENKSLKRLQ     71 - 140
YRQEKALNKFEDAENEISQLIFRHNNEITALKERLRKSQEKERATEKRVKDTESELFRTKFSLQKLKEIS    141 - 210
EARHLPERDDLAKKLVSAELKLDDTERRIKELSKNLELSTNSFQRQLLAERKRAYEAHDENKVLQKEVQR    211 - 280
LYHKLKEKERELDIKNIYSNRLPKSSPNKEKELALRKNAACQSDFADLCTKGVQTMEDFKPEEYPLTPET    281 - 350
IMCYENKWEEPGHLTLDLQSQKQDRHGEAGILNPIMEREEKFVTDEELHVVKQEVEKLEDEWEREELDKK    351 - 420
QKEKASLLEREEKPEWETGRYQLGMYPIQNMDKLQGEEEERLKREMLLAKLNEIDRELQDSRNLKYPVLP    421 - 490
LLPDFESKLHSPERSPKTYRFSESSERLFNGHHLQDISFSTPKGEGQNSGNVRSPASPNEFAFGSYVPSF    491 - 560
AKTSERSNPFSQKSSFLDFQRNSMEKLSKDGVDLITRKEKKANLMEQLFGASGSSTISSKSSDPNSVASS    561 - 630
KGDIDPLNFLPGNKGSRDQEHDEDEGFFLSEGRSFNPNRHRLKHADDKPAVKAADSVEDEIEEVALR       631 - 697
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Text Mined References (25)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25416956 2014 A proteome-scale map of the human interactome network.
24144451 2014 Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
23946133 2013 Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
23509613 2013 Genome-wide association study of antiphospholipid antibodies.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22940612 2012 FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
21850168 2011 Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
21606596 2011 Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
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