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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

RPGRIP1-like

FANTOM, FTM, RPGRIP1L
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, FTO, fibrillin-1, CEP290, OUT
Papers on FANTOM
Neuroimaging studies in people with gender incongruence.
New
Guillamon et al., Amsterdam, Netherlands. In Int Rev Psychiatry, Feb 2016
Findings from neuroimaging studies focusing on brain structure suggest that the brain phenotypes of trans women (MtF) and trans men (FtM) differ in various ways from control men and women with feminine, masculine, demasculinized and defeminized features.
Brain activation-based sexual orientation in female-to-male transsexuals.
New
Jeong et al., Kwangju, South Korea. In Int J Impot Res, Jan 2016
This study was performed to identify the sexual orientation in association with brain activation pattern in response to visual erotic stimuli in female-to-male (FtM) transsexuals by using functional magnetic resonance imaging (fMRI).
A very rare case of breast cancer in a female-to-male transsexual.
New
Nanba et al., Okayama, Japan. In Breast Cancer, Jan 2016
UNASSIGNED: The incidence of breast cancer in female-to-male (FTM) transsexuals who received mastectomy and sex reassignment surgery is very rare.
Pseudogene-expressed RNAs: a new frontier in cancers.
Review
New
Sun et al., Huzhou, China. In Tumour Biol, Jan 2016
Since the completion of the ENCODE (Encyclopedia of DNA Elements) and FANTOM (Functional Annotation of Mammals) project, tens of thousands of pseudogenes as well as numerous long non-coding RNA (lncRNA) genes were identified.
Genetics meets epigenetics: Genetic variants that modulate noncoding RNA in cardiovascular diseases.
Review
New
Rampazzo et al., Maastricht, Netherlands. In J Mol Cell Cardiol, Dec 2015
After the recent description of the human genome by the ENCODE and the FANTOM consortia, major attention has been addressed to the so-called "genomic noise", which mainly consists of noncoding RNAs (ncRNAs).
Expression Specificity of Disease-Associated lncRNAs: Toward Personalized Medicine.
Review
New
Carninci et al., Yokohama, Japan. In Curr Top Microbiol Immunol, Sep 2015
The functional annotation of mammalian genome (FANTOM) consortium utilizes cap analysis of gene expression (CAGE) method to quantify genome-wide activities of promoters and enhancers of coding and noncoding RNAs across a large collection of human and mouse tissues' cell types' diseases, and time-courses.
Basic biology and therapeutic implications of lncRNA.
Review
New
Wahlestedt et al., Miramar, United States. In Adv Drug Deliv Rev, Jul 2015
Long non-coding RNAs (lncRNA), a class of non-coding RNA molecules recently identified largely due to the efforts of FANTOM, and later GENCODE and ENCODE consortia, have been a subject of intense investigation in the past decade.
The 'Fat Mass and Obesity Related' (FTO) gene: Mechanisms of Impact on Obesity and Energy Balance.
New
Speakman, Beijing, China. In Curr Obes Rep, Mar 2015
It has been recently suggested that although the obesity related SNPs reside in the first intron of FTO, they may not only impact FTO but mediate their obesity effects via nearby genes (notably RPGRIP1L and IRX3).
The Role of RPGR and Its Interacting Proteins in Ciliopathies.
Review
Shu et al., Greenock, United Kingdom. In J Ophthalmol, 2014
In this review, we specifically focus on RPGR and its two interacting proteins: RPGRIP1 and RPGRIP1L.
Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5.
Elgar et al., Odense, Denmark. In Genome Med, 2014
METHODS: Here, we sequence a 2 Mb region encompassing the FTO, RPGRIP1L and IRXB cluster genes in 284 individuals from a well-characterised study group of Danish men containing extremely overweight young adults and controls.
Obesity and FTO: Changing Focus at a Complex Locus.
Review
Impact
Coll et al., Cambridge, United Kingdom. In Cell Metab, 2014
Two recent reports now indicate that obesity-associated SNPs appear functionally connected not with FTO but with two neighboring genes: IRX3 and RPGRIP1L.
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Impact
Leibel et al., New York City, United States. In Cell Metab, 2014
Previous studies have suggested that a CUX1-regulatory element within the implicated FTO region controls expression of FTO and the nearby ciliary gene, RPGRIP1L.
Genetic association of the gene encoding RPGRIP1L with susceptibility to vascular dementia.
GeneRIF
Lee et al., Seoul, South Korea. In Gene, 2012
First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia.
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
GeneRIF
Daiger et al., Houston, United States. In Adv Exp Med Biol, 2011
Genetic variation may affect severity of disease for X-linked retinitis pigmentosa.
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
GeneRIF
Roepman et al., Nijmegen, Netherlands. In Hum Mol Genet, 2011
Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.
GeneRIF
Leibel et al., New York City, United States. In J Biol Chem, 2011
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling.
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
GeneRIF
Daiger et al., Houston, United States. In Plos One, 2010
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.
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Impact
GeneRIF
Katsanis et al., Ann Arbor, United States. In Nat Genet, 2009
RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Impact
GeneRIF
Roepman et al., Nijmegen, Netherlands. In Nat Genet, 2007
Responsible for Joubert syndrome, affecting cilia and basal bodies.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Impact
GeneRIF
Saunier et al., Paris, France. In Nat Genet, 2007
Inactivation of mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of cerebello-oculo-renal syndrome and Meckel syndrome.
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