RAPGEF1

Rap guanine nucleotide exchange factor 1 is a protein that in humans is encoded by the RAPGEF1 gene.^[5][6]

RAPGEF1
Identifiers
Aliases	RAPGEF1, C3G, GRF2, Rap guanine nucleotide exchange factor 1
External IDs	OMIM: 600303; MGI: 104580; HomoloGene: 50501; GeneCards: RAPGEF1; OMA:RAPGEF1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.13 Start 131,576,770 bp[1] End 131,740,076 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 B|2 20.32 cM Start 29,509,732 bp[2] End 29,630,990 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh apex of heart sural nerve granulocyte nucleus accumbens right lung right frontal lobe right hemisphere of cerebellum caudate nucleus Top expressed in otic vesicle saccule muscle of thigh otic placode skeletal muscle tissue ankle knee joint ventricular zone dentate gyrus of hippocampal formation granule cell gastrocnemius muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function SH3 domain binding protein binding guanyl-nucleotide exchange factor activity Cellular component cytosol endosome early endosome phagocytic vesicle membrane perinuclear region of cytoplasm cytoplasm protein-containing complex Biological process establishment of endothelial barrier negative regulation of protein kinase B signaling cellular response to nerve growth factor stimulus regulation of cell junction assembly transmembrane receptor protein tyrosine kinase signaling pathway small GTPase mediated signal transduction Rap protein signal transduction negative regulation of neural precursor cell proliferation nerve growth factor signaling pathway nervous system development negative regulation of Ras protein signal transduction positive regulation of GTPase activity blood vessel development negative regulation of ERK1 and ERK2 cascade platelet-derived growth factor receptor signaling pathway negative regulation of canonical Wnt signaling pathway cellular response to cAMP signal transduction positive regulation of neuron projection development regulation of JNK cascade positive regulation of ERK1 and ERK2 cascade positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis cell-cell adhesion cytokine-mediated signaling pathway positive regulation of Ras protein signal transduction activation of GTPase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2889 107746 Ensembl ENSG00000107263 ENSMUSG00000039844 UniProt Q13905 n/a RefSeq (mRNA) NM_001304275 NM_005312 NM_198679 NM_001377935 NM_001377936 NM_001377937 NM_001377938 NM_001039086 NM_001039087 NM_054050 NM_001362702 RefSeq (protein) NP_001291204 NP_005303 NP_941372 NP_001364864 NP_001364865 NP_001364866 NP_001364867 n/a Location (UCSC) Chr 9: 131.58 – 131.74 Mb Chr 2: 29.51 – 29.63 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is a human guanine nucleotide releasing protein for Ras protein. It belongs to the adaptor-type Src homology (SH)2-containing molecules. Src homology 2 domains are globular protein modules present in a large variety of functionally distinct proteins. They mediate binding events that control the activity and localization of many proteins involved in the transmission of signals from the cell surface to the nucleus. The mRNAs of these proteins are expressed ubiquitously in human adult and fetal tissues. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.^[7]

Interactions

RAPGEF1 has been shown to interact with:

• BCAR1,^[8]
• CRK,^[6]
• CRKL^{[9][10][11][12][13][14][15]}
• Grb2,^[6][9] and
• HCK.^[16]