Property Summary

NCBI Gene PubMed Count 38
PubMed Score 138.82
PubTator Score 28.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
posterior fossa group B ependymoma 2.300 1.6e-10
lung cancer 1.300 3.2e-02
active Crohn's disease 1.295 1.9e-02
Breast cancer 2.200 2.7e-02
ductal carcinoma in situ 1.400 1.3e-03
invasive ductal carcinoma 1.400 3.2e-02
ovarian cancer 1.300 8.7e-04
chronic rhinosinusitis -1.216 4.8e-02
cystic fibrosis and chronic rhinosinusit... -1.202 4.7e-02

 GWAS Trait (1)

Gene RIF (23)

PMID Text
23678272 KIAA1005 (rs3213758)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type.
22876109 All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient.
22425971 First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia.
22183348 Genetic variation may affect severity of disease for X-linked retinitis pigmentosa.
21857984 Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations.
21685204 Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.
21068128 Observational study of gene-disease association. (HuGE Navigator)
20865646 Insulin was identified as a key factor regulating FTM expression during human preadipocyte differentiation.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20519441 CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19844207 Observational study of gene-disease association. (HuGE Navigator)
19574260 Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L.
19430481 RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration.
19410446 data suggest that RPGRIP1L suppresses anchorage-independent growth partly through the mitotic checkpoint protein Mad2.
18565097 RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%).
18565097 Observational study of gene-disease association. (HuGE Navigator)
18426861 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18281315 Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. Review.
18256137 Discuss Fto/Ftm gene expression regulation via CUTL1.
17960139 T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of Joubert syndrome type B patients negative for NPHP1, NPHP6, or AHI1 mutations
17558409 Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome.
17558407 Responsible for Joubert syndrome, affecting cilia and basal bodies.

AA Sequence

MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARK      1 - 70
QEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQL     71 - 140
QTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRN    141 - 210
LENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSN    211 - 280
ALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRIND    281 - 350
LEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL    351 - 420
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKD    421 - 490
LERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAA    491 - 560
RIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPV    561 - 630
TFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKF    631 - 700
HEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLS    701 - 770
QQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDD    771 - 840
HMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTI    841 - 910
HVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDI    911 - 980
MPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEG    981 - 1050
QLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRL   1051 - 1120
PGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSL   1121 - 1190
PKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHV   1191 - 1260
DLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA                  1261 - 1315
//

Text Mined References (42)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26595381 2016 TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
23678272 2013 Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
22927466 2012 Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity.
22876109 2012 Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.
22425971 2012 Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia.
22183348 2012 Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
21857984 2011 Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
21685204 2011 The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
21565611 2011 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
21254220 2011 Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20865646 2011 Regulation of FTO and FTM expression during human preadipocyte differentiation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20519441 2010 CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19844207 2010 Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.
19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
19464661 2009 Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor.
19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
19410446 2009 The basal body gene, RPGRIP1L, is a candidate tumour suppressor gene in human hepatocellular carcinoma.
19066617 2009 Nephronophthisis.
18565097 2008 RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
18426861 2008 Association analysis of type 2 diabetes Loci in type 1 diabetes.
18281315 2008 Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
18256137 2008 Regulation of Fto/Ftm gene expression in mice and humans.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17960139 2007 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
17434869 2007 A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.