Homo sapiens Protein: RAPGEF1
Summary
InnateDB Protein IDBP-90121.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RAPGEF1
Protein Name Rap guanine nucleotide exchange factor (GEF) 1
Synonyms C3G; GRF2;
Species Homo sapiens
Ensembl Protein ENSP00000361264
InnateDB Gene IDBG-90109 (RAPGEF1)
Protein Structure
UniProt Annotation
Function Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth. {ECO:0000269PubMed:17724123, ECO:0000269PubMed:21840392, ECO:0000269PubMed:7806500}.
Subcellular Localization Early endosome {ECO:0000269PubMed:17724123}.
Disease Associations
Tissue Specificity Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and placenta and in fetal brain and heart. Low levels of expression in adult and fetal liver.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 23 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0017034 Rap guanyl-nucleotide exchange factor activity
GO:0017124 SH3 domain binding
Biological Process
GO:0000186 activation of MAPKK activity
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0010976 positive regulation of neuron projection development
GO:0032486 Rap protein signal transduction
GO:0032854 positive regulation of Rap GTPase activity
GO:0038180 nerve growth factor signaling pathway
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0061028 establishment of endothelial barrier
GO:0071320 cellular response to cAMP
GO:1901888 regulation of cell junction assembly
GO:1990090 cellular response to nerve growth factor stimulus
Cellular Component
GO:0005622 intracellular
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR000651 Ras-like guanine nucleotide exchange factor, N-terminal
IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
IPR023578 Ras guanine nucleotide exchange factor domain
PFAM PF00618
PF00617
PRINTS
PIRSF
SMART SM00229
SM00147
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q13905
PhosphoSite PhosphoSite-Q13905
TrEMBL Q5JUE5
UniProt Splice Variant
Entrez Gene 2889
UniGene Hs.637954
RefSeq NP_941372
HUGO HGNC:4568
OMIM 600303
CCDS
HPRD 02627
IMGT
EMBL AL160271 AL160276 BC041710 D21239
GenPept AAH41710 BAA04770 CAI13382 CAI40646