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Ras and Rab interactor 3

RIN3 is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases (see RAB5A; MIM 179512) (Kajiho et al., 2003 [PubMed 12972505]).[supplied by OMIM, Mar 2008] (from NCBI)
Top mentioned proteins: Rab5, GEF, TREM2, Bin1, PLD3
Papers on RIN3
Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3).
Feller et al., Oxford, United Kingdom. In J Biol Chem, Nov 2015
Thus, we studied the binding properties of each SH3 domain to the known interactor Casitas B-lineage lymphoma protein (c-CBL), conducted a peptide array screen based on the recognition motif PxPxPR and identified 40 known or novel candidate binding proteins, such as RIN3, a RAB5-activating guanine nucleotide exchange factor.
Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.
Albagha et al., Edinburgh, United Kingdom. In Hum Mol Genet, Jul 2015
Imputation in 741 PDB patients and 2699 controls confirmed that the association was confined to a 60 kb region in the RIN3 gene and conditional analysis adjusting for rs10498635 identified no new independent signals.
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
Goate et al., Saint Louis, United States. In Biol Psychiatry, 2015
More recent advances in understanding of the human genome-technologic advances in methods to analyze millions of polymorphisms in thousands of subjects-have revealed new genes associated with AD risk, including ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-DBR1, INPP5D, MS4A, MEF2C, NME8, PICALM, PTK2B, SLC24H4-RIN3, SORL1, and ZCWPW1.
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.
Tobin et al., London, United Kingdom. In Nat Commun, 2014
We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.
Genetics of Paget's disease of bone.
Albagha, Edinburgh, United Kingdom. In Bonekey Rep, 2014
PDB-susceptibility variants exert their effect either by affecting the protein coding sequence such as variants found in SQSTM1 and RIN3 or by influencing gene expression such as those found in OPTN and DCSTAMP.
Identification of genes whose expression is altered by obesity throughout the arterial tree.
Laughlin et al., United States. In Physiol Genomics, 2014
We found a total of 15 genes that were consistently upregulated with obesity (MIS18A, CTRB1, FAM151B, FOLR2, PXMP4, OAS1B, SREBF2, KLRA17, SLC25A44, SNX10, SLFN3, MEF2BNB, IRF7, RAD23A, LGALS3BP) and five genes that were consistently downregulated with obesity (C2, GOLGA7, RIN3, PCP4, CYP2E1).
Submicroscopic genomic rearrangements change gene expression in T-cell large granular lymphocyte leukemia.
Przybylski et al., Poznań, Poland. In Eur J Haematol, 2014
Nineteen genes, among them FOXN3, RIN3, AKT1, PPP2R5C, were overexpressed as a result of an amplification in 14q in one T-LGL patient.
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
Evans et al., Bristol, United Kingdom. In Plos Genet, 2014
In addition, we report a novel association between RIN3 (previously associated with Paget's disease) and LL-BMD (rs754388: β = 0.13, SE = 0.02, P = 1.4 × 10(-10)).
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NETT Genetics et al., Boston, United States. In Lancet Respir Med, 2014
We also showed significant evidence of association at a novel locus near RIN3 (p=5·25 × 10(-9)).
Genetics of Alzheimer's disease.
Seshadri et al., Boston, United States. In Adv Genet, 2013
These loci are in or near-novel AD genes including BIN1, CR1, CLU, phosphatidylinositol-binding clathrin assembly protein (PICALM), CD33, EPHA1, MS4A4/MS4A6, ABCA7, CD2AP, SORL1, HLA-DRB5/DRB1, PTK2B, SLC24A4-RIN3, INPP5D, MEF2C, NME8, ZCWPW1, CELF1, FERMT2, CASS4, and TRIP4 and each has small effects on risk of AD (relative risks of 1.1-1.3).
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways.
Kamboh et al., Pittsburgh, United States. In Curr Genet Med Rep, 2013
In addition to APOE, recent large genome-wide association studies have identified variation in over 20 loci that contribute to disease risk: CR1, BIN1, INPP5D, MEF2C, TREM2, CD2AP, HLA-DRB1/HLA-DRB5, EPHA1, NME8, ZCWPW1, CLU, PTK2B, PICALM, SORL1, CELF1, MS4A4/MS4A6E, SLC24A4/RIN3,FERMT2, CD33, ABCA7, CASS4.
Beyond GWAS in COPD: probing the landscape between gene-set associations, genome-wide associations and protein-protein interaction networks.
GenKOLS et al., Boston, United States. In Hum Hered, 2013
Further, several genes have also been associated with pathophysiology relevant to COPD including KCNK3, NEDD4L, and RIN3.
Paget's disease of bone: evidence for complex pathogenetic interactions.
Van Hul et al., Antwerp, Belgium. In Semin Arthritis Rheum, 2012
However, PDB patients without SQSTM1 mutations seem to have susceptibility genetic polymorphisms in regions containing the CaSR, ESR1, TNFRSF11B (OPG), TNFRSF11A (RANK), CSF1 (M-CSF), OPTN, TM7SF4 (DC-STAMP), VCP, NUP205, RIN3, PML, and GOLGA6A genes, resulting in an increased risk of developing PDB.
RIN3 is a negative regulator of mast cell responses to SCF.
Colicelli et al., Los Angeles, United States. In Plos One, 2011
RIN3, a RAS effector and RAB5-directed guanine nucleotide exchange factor (GEF), is highly expressed and enriched in human mast cells.
Characterization of RIN3 as a guanine nucleotide exchange factor for the Rab5 subfamily GTPase Rab31.
Katada et al., Tokyo, Japan. In J Biol Chem, 2011
RIN3 specifically acts as a GEF for Rab31.
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Genetic Determinants of Paget's Disease (GDPD) Consortium et al., Edinburgh, United Kingdom. In Nat Genet, 2011
P = 1.6 × 10(-14)), rs10498635 within RIN3 on 14q32 (OR = 1.44,
Tyr-phosphorylation signals translocate RIN3, the small GTPase Rab5-GEF, to early endocytic vesicles.
Katada et al., Tokyo, Japan. In Biochem Biophys Res Commun, 2008
Tyrosine-phosphorylation signals are involved in the RIN3 activation and translocation to early endocytic vesicles.
RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in the early endocytic pathway.
Katada et al., Tokyo, Japan. In J Cell Sci, 2003
RIN3 biochemically characterized as the stimulator and stabilizer for GTP-Rab5 plays an important role in the transport pathway from plasma membrane to early endosomes
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