• Guanine nucleotide exchange factors (GEFs) are proteins or protein domains that activate monomeric GTPases by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP). (wikipedia.org)
  • Guanine nucleotide exchange factors (GEFs) are proteins or protein domains involved in the activation of small GTPases. (wikipedia.org)
  • From these studies, the emerging picture is that the RLD is a versatile domain which may perform many different functions, including guanine nucleotide exchange on small GTP-binding proteins, enzyme inhibition or interaction with proteins and lipids. (nih.gov)
  • Genetic studies have clarified that most microcephaly genes encode ubiquitous proteins involved in mitosis and in maintenance of genomic stability, but the effects of their inactivation are particularly strong in neural progenitors. (cancerindex.org)
  • This protein is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. (avivasysbio.com)
  • Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication.The protein encoded by this proto-oncogene is a member of the Dbl family of guanine nucleotide exchange factors (GEF) for the Rho family of GTP binding proteins. (avivasysbio.com)
  • Note that by convention gene names are italicized and the proteins they make are not. (cancerquest.org)
  • Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. (nih.gov)
  • The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. (antibodies-online.com)
  • Two classes of intracellular proteins act as inhibitors of G protein activation: GTPase activating proteins (GAPs), which enhance GTP hydrolysis and guanine dissociation inhibitors (GDIs), which inhibit GDP dissociation. (embl-heidelberg.de)
  • A novel membrane factor stimulates guanine nucleotide exchange reaction of ras proteins. (wikidata.org)
  • Programmable DNA binding proteins have emerged as an exciting platform for engineering synthetic transcription factors for modulating endogenous gene expression 5 - 11 . (cdc.gov)
  • Thus, GEFs both destabilize the GTPase interaction with GDP and stabilize the nucleotide-free GTPase until a GTP molecule binds to it. (wikipedia.org)
  • However, there are some similarities in how different GEFs alter the conformation of the G protein nucleotide-binding site. (wikipedia.org)
  • A number of GEFs have been shown to regulate the invasive phenotype of tumours and cancer cell lines, leading to the hypothesis that P-Rex1 is an invasion promoting gene. (gla.ac.uk)
  • As a proangiogenic response effecter, the interaction of Sema4D with plexin-B1 is dependent on the COOH-terminal PDZ-binding motif of plexin-B1, which binds two guanine nucleotide exchange factors (GEFs) for Rho and is mediated by the activation of Rho-initiated (Ras homolog gene family) pathways ( 4 - 8 ). (jcancer.org)
  • A rare, hereditary variant affecting infants and children (JPLS) was mapped to the gene ALS2 (alsin) on chromosome 2q33.2. (medscape.com)
  • Linkage analysis in 18 familial ALS pedigrees associated the gene encoding Cu/Zn superoxide dismutase ( SOD1 ) on chromosome 21 to the syndrome. (bmj.com)
  • Current literatures report a defect in the Son of sevenless-1 gene (SOS-1) on chromosome 2p21-p22 (HGF1) as a possible cause of this condition. (bvsalud.org)
  • Twenty-two of the pairs, chromosome numbers 1 to 22, the autosomes, are normally homologous (identical in size, shape, and position and number of genes). (msdmanuals.com)
  • the smaller Y chromosome carries genes that initiate male sex differentiation, as well as a few other genes. (msdmanuals.com)
  • The genes that occupy the same locus on each chromosome of a pair (one inherited from the mother and one from the father) are called alleles. (msdmanuals.com)
  • A chromosome contains many genes. (msdmanuals.com)
  • Full activity of these enhancers requires functional binding sites for Su(H), the DNA-binding transcription factor in the Notch pathway, validating their direct regulation. (cam.ac.uk)
  • Achieving systematic, genome-scale perturbations within intact biological systems is important for elucidating gene function and epigenetic regulation. (cdc.gov)
  • Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. (avivasysbio.com)
  • We also synthesize a library consisting of 70,290 guides targeting all human RefSeq coding isoforms to screen for genes which, upon activation, confer resistance to a BRAF inhibitor. (cdc.gov)
  • Humans have about 20,000 to 23,000 genes depending on how a gene is defined. (msdmanuals.com)
  • There are three biomarkers of effect currently being applied to measure PO exposure in humans: DNA adducts, hemoglobin adducts, and sister chromatid exchanges (SCE). (who.int)
  • At least 20 ALS2 gene mutations have been found to cause infantile-onset ascending hereditary spastic paralysis. (medlineplus.gov)
  • Mutations in the ALS2 gene alter the instructions for making alsin, often resulting in the production of an abnormally short alsin protein that is unstable and rapidly broken down. (medlineplus.gov)
  • It is unclear exactly how ALS2 gene mutations cause infantile-onset ascending hereditary spastic paralysis. (medlineplus.gov)
  • Researchers have identified three mutations in the ALS2 gene that cause juvenile primary lateral sclerosis, which is characterized by progressive weakness and stiffness of muscles in the arms, legs, and face that typically begins in childhood. (medlineplus.gov)
  • Two of the mutations that cause this disorder delete nucleotides, and one mutation replaces one nucleotide with an incorrect nucleotide. (medlineplus.gov)
  • Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (medlineplus.gov)
  • Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. (nih.gov)
  • Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. (nature.com)
  • We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. (nature.com)
  • Figure 2: Targeted sequencing highlights genes reaching significance for de novo mutations and private disruptive variant burden. (nature.com)
  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk. (nature.com)
  • [ 6 ] At least 10 deletion mutations and 1 missense mutation of the alsin gene have been shown to cause JPLS. (medscape.com)
  • Mutational analysis revealed point-mutations in the SOD1 gene to cosegregate with the disease in these pedigrees. (bmj.com)
  • Mutations in the EIF2B5 gene have been identified in about 65 percent of people with leukoencephalopathy with vanishing white matter, including those with a severe, early-onset form that is seen among the Cree and Chippewayan populations of Quebec and Manitoba (Cree leukoencephalopathy) and some affected females with a variant of the disorder in which the neurological features are accompanied by ovarian failure (ovarioleukodystrophy). (medlineplus.gov)
  • Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways. (medlineplus.gov)
  • ALL cancers have lots of additional changes, the so-called 'passenger' mutations, that may contribute to the cancer, but are not the main genes. (cancerquest.org)
  • Furthermore, secondary structure prediction showed that mutations at T471C and C862T apparently lead to change of the gene structure. (jcancer.org)
  • Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. (utsouthwestern.edu)
  • PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. (utsouthwestern.edu)
  • Eymard-Pierre E, Yamanaka K, Haeussler M, Kress W, Gauthier-Barichard F, Combes P, Cleveland DW, Boespflug-Tanguy O. Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. (medlineplus.gov)
  • Of the 30,000 or so genes that are currently thought to exist in the human genome , there is a small subset that seems to be particularly important in the prevention, development, and progression of cancer. (cancerquest.org)
  • However, many Notch-regulated genes identified in genome-wide studies are involved in fundamental aspects of cell behaviour, suggesting a more direct influence on cellular properties. (cam.ac.uk)
  • I use a variety of approaches including candidate gene, linkage disequilibrium mapping, genome wide association studies and more recently exome and whole genome sequencing to identify genes and/or variants involved in disease susceptibility. (umaryland.edu)
  • These regions and the phosphate-binding loop of the GTPase interact with the phosphates of the nucleotide and a coordinating magnesium ion to maintain high affinity binding of the nucleotide. (wikipedia.org)
  • Guanine nucleotide exchange factor (GEF) for Ral-A. Potential effector of GTPase HRas and Ras-related proteinM-Ras. (novusbio.com)
  • The distinctive presence of both Rab- and Rho-GTPase GEF activities suggests that C9orf72 may function as a dual exchange factor coupling physiological functions such as cytoskeleton modulation and autophagy with endocytosis. (bath.ac.uk)
  • The highly conserved Asp-Gln-Arg triad within the GoLoco motif participates directly in GDP binding by extending the arginine side chain into the nucleotide binding pocket, highly reminiscent of the catalytic arginine finger employed in GTPase-activating protein. (embl-heidelberg.de)
  • The guanine nucleotide exchange factor Sos (Son-of-sevenless) is a complex multidomain protein that activates the small GTPase Ras (H-Ras, K-Ras, N-Ras, but not functionally distinct R-Ras) in response to receptor tyrosine kinase stimulation. (novusbio.com)
  • The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. (utsouthwestern.edu)
  • The C9orf72 protein is predicted to be a differentially expressed in normal and neoplastic cells domain protein implying that C9orf72 functions as a guanine nucleotide exchange factor (GEF) to regulate specific Rab GTPases. (bath.ac.uk)
  • Figure 3: Protein locations of private disruptive variants in new candidate NDD risk genes. (nature.com)
  • There were three nucleotide variants (T471C/A600G/C862T) frequently detected in cancer cell lines. (jcancer.org)
  • Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. (antibodies-online.com)
  • An association between Epac-1 gene variants and anxiety and depression in two independent samples. (tamu.edu)
  • We investigated the association between Epac-1 gene variants, also known as RapGEF-3, and measures of anxiety and depression in a Dutch twin-family sample. (tamu.edu)
  • Both samples showed an association between Epac-1 gene variants and anxiety and depression, but for different variants or in opposite directions. (tamu.edu)
  • Multiple transcript variants encoding different isoforms have been found for this gene. (utsouthwestern.edu)
  • To date, at least 23 loci and 19 disease-causing genes for parkinsonism have been found, but many more genetic risk loci and variants for the sporadic phenotype have been identified in various association studies [ 13 ]. (biomedcentral.com)
  • Pathogenic KMT5B gene variants lead to autosomal dominant, intellectual developmental disorder 51 (OMIM # 617788). (bvsalud.org)
  • This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. (nih.gov)
  • The nuclear guanine nucleotide exchange factors Ect2 and Net1 regulate RhoB-mediated cell death after DNA damage. (ncsu.edu)
  • As recently discovered, the KMT5B gene is related to abnormal activities of the enzymes that regulate histone activity and gene expression during brain development. (bvsalud.org)
  • Longitudinal self-report measures of neuroticism, anxiety and depression and genetic factor scores (GFS-NL), based on these measures, were analyzed in the Dutch sample. (tamu.edu)
  • In the USA sample, neuroticism and Genetic Factor Scores (GFS-USA), based on neuroticism and diagnoses of anxiety disorders and depression, were analyzed. (tamu.edu)
  • Mounting evidence shows the importance of genetic causes, especially genes involved in the central nervous system development. (bvsalud.org)
  • In meiosis, the genetic information inherited from a person's mother and father is recombined through crossing over (exchange between homologous chromosomes). (msdmanuals.com)
  • These phenotypes are dependent on Rac1, PI3 kinase and GPCR signalling and can be stimulated by growth factor mediated accumulation of PIP3. (gla.ac.uk)
  • Iyer, S , Subramanian, V & Acharya, KR 2018, ' C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor ', PeerJ , pp. 1-29. (bath.ac.uk)
  • GTPases contain two loops called switch 1 and switch 2 that are situated on either side of the bound nucleotide. (wikipedia.org)
  • By another (separable) guanine exchange factor domain domain Sos modulates activity of Rac/Rho GTPases. (novusbio.com)
  • The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. (utsouthwestern.edu)
  • By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. (nih.gov)
  • Expression of forC, D, I and J increased during transition to multi-cellular stages, while the rest of genes displayed less marked developmental variations. (biomedcentral.com)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • PERK and ATF6 signaling pathways activate the downstream factor CHOP to downregulate the expression of Bcl-2, an antiapoptotic protein, and contribute to programmed cell death [ 5 ], which has been comprehensively reviewed [ 6 ]. (hindawi.com)
  • Network analysis of disrupted genes with high brain expression identified significant enrichment in pathways of the cholinergic synapse, guanine-exchange factor activation and the mammalian target of rapamycin. (bmj.com)
  • HGF is more commonly associated with an autosomal dominant gene 4 . (bvsalud.org)
  • The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)
  • Pcp2 was first identified as a candidate gene to explain Purkinje cell degeneration in pcd mice (Nordquist, D. T., Kozak, C. A., and Orr, H. T. (1988) J. Neurosci. (embl-heidelberg.de)
  • There is no longer a need for signals to activate these genes. (cancerquest.org)
  • LRRK2 is a large gene spanning a genomic region of 144 kb with 51 exons and encodes a multidomain protein consisting of 2527 amino acids. (biomedcentral.com)
  • The UK monophasic epidemic clones showed a novel genomic island encoding resistance to heavy metals and a composite transposon encoding antimicrobial drug resistance genes not present in other Salmonella Typhimurium isolates, which may have contributed to epidemiologic success. (cdc.gov)
  • It is therefore conceivable that the inhibition of the function of these genes may specifically affect the proliferation and survival of brain tumor cells. (cancerindex.org)
  • The mixture of conditions in the microenvironment exemplified by hypoxia-induced ovarian cancer TNTs playing a crucial role in tumor growth, as just one example, is a potential avenue of investigation that will uncover their role in relation to other known factors, including EVs. (frontiersin.org)
  • This first category also includes genes that contribute to tumor growth by inhibiting cell death. (cancerquest.org)
  • The genes in the second group are called tumor suppressors. (cancerquest.org)
  • This is in contrast with tumor suppressor genes which must BOTH be defective to lead to abnormal cell division. (cancerquest.org)
  • Expected and potentially novel resistance genes are enriched in the top hits and are validated using individual sgRNA as well as cDNA overexpression. (cdc.gov)
  • To view the previous version, visit the SFARI Gene Archive . (sfari.org)
  • Information in SFARI Gene Archive will no longer be updated. (sfari.org)
  • Here, we report on a male patient with a severe neurodevelopmental disorder caused by a novel KMT5B gene variant inherited from his mother. (bvsalud.org)
  • Notch directly regulates the cell morphogenesis genes Reck, talin and trio in adult muscle progenitors. (cam.ac.uk)
  • Thus, besides its well-known roles in regulating the expression of cell-fate-determining transcription factors, Notch signalling also has the potential to directly affect cell morphology and behaviour by modulating expression of genes such as Reck, rhea/talin and trio. (cam.ac.uk)
  • Synaptic, transcriptional and chromatin genes disrupted in autism. (nature.com)
  • P-Rex1, a Rac guanine nucleotide exchange factor (GEF), was previously identified in this lab in a transcriptional screen for mediators of cell invasion. (gla.ac.uk)
  • We use these engineered Cas9 activation complexes to investigate sgRNA targeting rules for effective transcriptional activation, demonstrate multiplexed activation of 10 genes simultaneously, and upregulate long intergenic non-coding RNA (lincRNA) transcripts. (cdc.gov)
  • The ALS2 gene provides instructions for making a protein called alsin. (medlineplus.gov)
  • According to Panzeri et al, "the protein encoded by the ALS2 gene, alsin, contains a number of cell signaling and protein trafficking domains. (medscape.com)
  • Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries. (stanford.edu)
  • By testing the functions of 25 such genes we confirmed that 12 are required in developing adult muscles, consistent with roles downstream of Notch. (cam.ac.uk)
  • Luciferase assays showed that T471C and C862T could significantly increase the expression efficiency of downstream target genes. (jcancer.org)
  • Please see the Entrez Gene record to access additional publications. (avivasysbio.com)
  • Each gene has a specific location (locus), which is typically the same on each of the 2 homologous chromosomes. (msdmanuals.com)
  • A remarkable amount of genotypic variation accumulated during clonal expansion that occurred during the epidemic, including multiple independent acquisitions of a novel prophage carrying the sopE gene and multiple deletion events affecting the phase II flagellin locus. (cdc.gov)
  • The structure of alsin predicts that it functions as a guanine nucleotide exchange factor (GEF). (medscape.com)
  • However, if the protective responses fail and the detrimental factors and ERS persist, cells are indexed to switch from prosurvival to proapoptosis [ 3 ], leading to enhanced expression of CHOP and upregulation of ER-related caspase-12. (hindawi.com)
  • Genes whose protein products stimulate or enhance the division and viability of cells. (cancerquest.org)
  • Semaphorin 4D (Sema4D) has been proven to be one of the hypoxia effectors regulated by hypoxia inducible factor (HIF-1) in multiple cells, and play a role in angiogenesis like VEGF. (jcancer.org)
  • These events are dependent on the proper levels of transcription and translation of certain genes. (cancerquest.org)
  • In general, Notch is proposed to coordinate these processes by regulating expression of key transcription factors. (cam.ac.uk)
  • Results We identified 84 patients with one or more rare CNVs, and, within this group, 14 (7.5%) with recurrent risk factor CNVs and 15 (8.0%) with likely pathogenic CNVs. (bmj.com)
  • Under some conditions, eIF2B increases protein synthesis by helping to recycle molecules called GTP, which carry energy to the initiation factor. (medlineplus.gov)
  • A variety of unrelated structural domains have been shown to exhibit guanine nucleotide exchange activity. (wikipedia.org)
  • Nucleotide exchange activity of Sos is stimulated by allosteric Ras binding. (novusbio.com)
  • ABSTRACT: The structural stability of guanine quadruplexes depends critically on an unusual configuration of dehydrated Na+ or K+ ions, closely spaced along the central axis of the quadruplex. (lu.se)