Property Summary

NCBI Gene PubMed Count 31
Grant Count 14
R01 Count 10
Funding $2,795,099.97
PubMed Score 44.91
PubTator Score 38.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.080 0.000
group 3 medulloblastoma 3.600 0.000

Gene RIF (17)

PMID Text
25414380 RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]
25398945 SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients
25096270 Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA.
24997176 Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations.
23505306 Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery.
23278760 We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far.
22183349 RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia.
21685204 Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.
21224891 heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma
20801516 Observational study of genetic testing. (HuGE Navigator)
More...

AA Sequence

MSHLVDPTSGDLPVRDIDAIPLVLPASKGKNMKTQPPLSRMNREELEDSFFRLREDHMLVKELSWKQQDE      1 - 70
IKRLRTTLLRLTAAGRDLRVAEEAAPLSETARRGQKAGWRQRLSMHQRPQMHRLQGHFHCVGPASPRRAQ     71 - 140
PRVQVGHRQLHTAGAPVPEKPKRGPRDRLSYTAPPSFKEHATNENRGEVASKPSELVSGSNSIISFSSVI    141 - 210
SMAKPIGLCMPNSAHIMASNTMQVEEPPKSPEKMWPKDENFEQRSSLECAQKAAELRASIKEKVELIRLK    211 - 280
KLLHERNASLVMTKAQLTEVQEAYETLLQKNQGILSAAHEALLKQVNELRAELKEESKKAVSLKSQLEDV    281 - 350
SILQMTLKEFQERVEDLEKERKLLNDNYDKLLESMLDSSDSSSQPHWSNELIAEQLQQQVSQLQDQLDAE    351 - 420
LEDKRKVLLELSREKAQNEDLKLEVTNILQKHKQEVELLQNAATISQPPDRQSEPATHPAVLQENTQIEP    421 - 490
SEPKNQEEKKLSQVLNELQVSHAETTLELEKTRDMLILQRKINVCYQEELEAMMTKADNDNRDHKEKLER    491 - 560
LTRLLDLKNNRIKQLEGILRSHDLPTSEQLKDVAYGTRPLSLCLETLPAHGDEDKVDISLLHQGENLFEL    561 - 630
HIHQAFLTSAALAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQPLYDFTSQYVMETDSLFLHYLQEASAR    631 - 700
LDIHQAMASEHSTLAAGWICFDRVLETVEKVHGLATLIGAGGEEFGVLEYWMRLRFPIKPSLQACNKRKK    701 - 770
AQVYLSTDVLGGRKAQEEEFRSESWEPQNELWIEITKCCGLRSRWLGTQPSPYAVYRFFTFSDHDTAIIP    771 - 840
ASNNPYFRDQARFPVLVTSDLDHYLRREALSIHVFDDEDLEPGSYLGRARVPLLPLAKNESIKGDFNLTD    841 - 910
PAEKPNGSIQVQLDWKFPYIPPESFLKPEAQTKGKDTKDSSKISSEEEKASFPSQDQMASPEVPIEAGQY    911 - 980
RSKRKPPHGGERKEKEHQVVSYSRRKHGKRIGVQGKNRMEYLSLNILNGNTPEQVNYTEWKFSETNSFIG    981 - 1050
DGFKNQHEEEEMTLSHSALKQKEPLHPVNDKESSEQGSEVSEAQTTDSDDVIVPPMSQKYPKADSEKMCI   1051 - 1120
EIVSLAFYPEAEVMSDENIKQVYVEYKFYDLPLSETETPVSLRKPRAGEEIHFHFSKVIDLDPQEQQGRR   1121 - 1190
RFLFDMLNGQDPDQGHLKFTVVSDPLDEEKKECEEVGYAYLQLWQILESGRDILEQELDIVSPEDLATPI   1191 - 1260
GRLKVSLQAAAVLHAIYKEMTEDLFS                                               1261 - 1286
//

Text Mined References (37)

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.
25414380 2014 Leber congenital amaurosis caused by mutations in RPGRIP1.
25398945 2015 Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
25096270 2014 A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.
23505306 2013 The RPGRIP1-related retinal phenotype in children.
23278760 2013 Identification of a novel LCA6 mutation in an Emirati family.
More...