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RAB guanine nucleotide exchange factor

RIN2, Rab5 exchange factor, Rabgef1
The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011] (from NCBI)
Top mentioned proteins: Rab5, CAN, HAD, V1a, MARCKS
Papers using RIN2 antibodies
PDGF-regulated rab4-dependent recycling of alphavbeta3 integrin from early endosomes is necessary for cell adhesion and spreading
Serini Guido et al., In Cell Research, 2000
... Mouse mAb anti-RIN2 (ab57377) was from Abcam and used for immunoprecipitation ...
Papers on RIN2
A Genome-wide Scan for Selective Sweeps in Racing Horses.
Kim et al., Seoul, South Korea. In Asian-australas J Anim Sci, Nov 2015
Neighboring genes around RALGAP2 included insulinoma-associated 1 (INSM1), pallid (PLDN), and Ras and Rab interactor 2 (RIN2) genes have similar roles in signal trafficking, suggesting that a co-evolving gene cluster located on the chromosome 22 is under strong artificial selection in racehorses.
Complexin-1 and Foxp1 Expression Changes Are Novel Brain Effects of Alpha-Synuclein Pathology.
Auburger et al., Frankfurt am Main, Germany. In Mol Neurobiol, Aug 2015
In particular complexin-1 (Cplx1), Rabl2a and 14-3-3epsilon (Ywhae) downregulation, as well as upregulation of the midbrain-specific factor forkhead box P1 (Foxp1) and of Rabgef1, were interesting as early mRNA level effects of alpha-synuclein triggered pathology.
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Morava et al., Nijmegen, Netherlands. In Eur J Hum Genet, 2014
So far unreported white matter abnormalities were found associated with GORAB and RIN2 mutations.
Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
Kayserili et al., Kocaeli, Turkey. In Am J Med Genet A, 2014
Three families from different ethnic origins have so far been reported and were all linked to homozygous mutations in RIN2, a gene encoding the Ras and Rab interactor 2 protein involved in cell trafficking.
DNA methylation as an adjunct to histopathology to detect prevalent, inconspicuous dysplasia and early-stage neoplasia in Barrett's esophagus.
Fitzgerald et al., Cambridge, United Kingdom. In Clin Cancer Res, 2013
Four genes (SLC22A18, PIGR, GJA12, and RIN2) showed the greatest area under curve (0.988) to distinguish between Barrett's esophagus and dysplasia/EAC in the retrospective cohort.
A tale of three GTPases and a RIN in endothelial cell adhesion.
Fernandez-Borja, Amsterdam, Netherlands. In Cell Res, 2012
In a paper recently published in Cell Research, Sandri et al. show that RIN2 connects three GTPases, R-Ras, Rab5 and Rac1, to promote endothelial cell adhesion through the regulation of integrin internalization and Rac1 activation.
The R-Ras/RIN2/Rab5 complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and Rac signaling.
Serini et al., Togo. In Cell Res, 2012
We identify the Ras and Rab5 interacting protein RIN2 as a key effector that in endothelial cells interacts with and mediates the pro-adhesive and -angiogenic activity of R-Ras.
Thymic stromal lymphopoietin contributes to myeloid hyperplasia and increased immunoglobulins, but not epidermal hyperplasia, in RabGEF1-deficient mice.
Galli et al., Stanford, United States. In Am J Pathol, 2010
Data show that RabGEF1 can negatively regulate thymic stromal lymphopoietin (TSLP) production in vivo and that excessive production of TSLP contributes to many of the phenotypic abnormalities in Rabgef1-/- mice.
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
Verloes et al., Gent, Belgium. In Hum Genet, 2010
These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.
Delayed onset of positive feedback activation of Rab5 by Rabex-5 and Rabaptin-5 in endocytosis.
Li et al., Oklahoma City, United States. In Plos One, 2009
Data reveal the affinity of Rabex-5/Rabaptin-5/Rab5-GTP interaction in the cell, which is quantitatively related to the Rabex-5 concentration for the onset of the indirect positive feedback pathway.
Rabex-5 is a Rab22 effector and mediates a Rab22-Rab5 signaling cascade in endocytosis.
Li et al., Oklahoma City, United States. In Mol Biol Cell, 2009
Data report the identification of Rab22 as a binding site on early endosomes for direct recruitment of Rabex-5 and activation of Rab5, establishing a Rab22-Rab5 signaling relay to promote early endosome fusion.
Rab5 isoforms differentially regulate the trafficking and degradation of epidermal growth factor receptors.
Stahl et al., Saint Louis, United States. In J Biol Chem, 2009
We investigated the activators/effectors of Rab5A that can potentially separate its potency in EGFR degradation from other isoforms and found that Rin1, a Rab5 exchange factor, preferably associated with Rab5A.
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Sprecher et al., Israel. In Am J Hum Genet, 2009
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Proteomic identification of the cerebral cavernous malformation signaling complex.
Wu et al., Chapel Hill, United States. In J Proteome Res, 2007
Other prominent proteins that bound the CCM complex include EF1A1, RIN2, and tubulin, with each interaction disrupted with the OSMF217A mutant protein.
GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor.
Stahl et al., Saint Louis, United States. In J Biol Chem, 2007
GAPex-5 is a newly described Rab5 exchange factor.
Involvement of the Ras-Ras-activated Rab5 guanine nucleotide exchange factor RIN2-Rab5 pathway in the hepatocyte growth factor-induced endocytosis of E-cadherin.
Takai et al., Suita, Japan. In J Biol Chem, 2006
HGF induced activation of Ras small G protein, which then bound to RIN2, a Rab5 GDP/GTP exchange factor with the Vps9p-like guanine nucleotide exchange factor and Ras association domains, and activated it.
RabGEF1 regulates stem cell factor/c-Kit-mediated signaling events and biological responses in mast cells.
Galli et al., Stanford, United States. In Proc Natl Acad Sci U S A, 2006
RabGEF1 plays a critical role in the regulation of SCF/c-Kit-mediated signaling events and biological responses in mast cells.
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