RAPGEF5

RAPGEF5
Identifiers
Aliases	RAPGEF5, GFR, MR-GEF, REPAC, Rap guanine nucleotide exchange factor 5, MRGEF
External IDs	OMIM: 609527; MGI: 2444365; HomoloGene: 56563; GeneCards: RAPGEF5; OMA:RAPGEF5 - orthologs
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1WGY
Gene location (Human)
Chr.	Chromosome 7 (human)
End	22,357,154 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	117,723,472 bp
RNA expression pattern
	Top expressed in
	inferior ganglion of vagus nerve; ; pons; ; inferior olivary nucleus; ; corpus callosum; ; superior vestibular nucleus; ; pars reticulata; ; subthalamic nucleus; ; postcentral gyrus; ; external globus pallidus; ; dorsal motor nucleus of vagus nerve;
	Top expressed in
	superior cervical ganglion; ; otolith organ; ; utricle; ; anterior amygdaloid area; ; right lung; ; lateral septal nucleus; ; zygote; ; left lung lobe; ; oocyte; ; secondary oocyte;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	GTP-dependent protein binding; guanyl-nucleotide exchange factor activity;
Cellular component	nucleus; nucleoplasm; nuclear body;
Biological process	small GTPase mediated signal transduction; nervous system development;
	Sources:Amigo / QuickGO
Orthologs
	9771
	217944
	ENSG00000136237
	ENSMUSG00000041992
	Q92565
	Q8C0Q9
	NM_012294; NM_001367600; NM_001367601; NM_001367602; NM_001367603
	NM_175930; NM_001373989
	NP_036426; NP_001354529; NP_001354530; NP_001354531; NP_001354532
	NP_787126; NP_001360918
	Wikidata
View/Edit Human	View/Edit Mouse

Rap guanine nucleotide exchange factor 5 is a protein that in humans is encoded by the RAPGEF5 gene.^[5]^[6]^[7]

Members of the RAS subfamily (see HRAS; MIM 190020) of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000).[supplied by OMIM]^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000136237 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041992 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (May 1997). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.
↑ Ichiba T, Hoshi Y, Eto Y, Tajima N, Kuraishi Y (Oct 1999). "Characterization of GFR, a novel guanine nucleotide exchange factor for Rap1". FEBS Lett. 457 (1): 85–9. doi:10.1016/S0014-5793(99)01012-1. PMID 10486569. S2CID 20296877.
1 2 "Entrez Gene: RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5".

de Rooij J, Rehmann H, van Triest M, et al. (2000). "Mechanism of regulation of the Epac family of cAMP-dependent RapGEFs". J. Biol. Chem. 275 (27): 20829–36. doi:10.1074/jbc.M001113200. PMID 10777494.
Rebhun JF, Castro AF, Quilliam LA (2001). "Identification of guanine nucleotide exchange factors (GEFs) for the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction". J. Biol. Chem. 275 (45): 34901–8. doi:10.1074/jbc.M005327200. PMID 10934204.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. Bibcode:2003Sci...300..767S. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Dupuy AG, L'Hoste S, Cherfils J, et al. (2005). "Novel Rap1 dominant-negative mutants interfere selectively with C3G and Epac". Oncogene. 24 (28): 4509–20. doi:10.1038/sj.onc.1208647. PMID 15856025.

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000136237 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041992 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9039502-5] Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (May 1997). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.

[pmid10486569-6] Ichiba T, Hoshi Y, Eto Y, Tajima N, Kuraishi Y (Oct 1999). "Characterization of GFR, a novel guanine nucleotide exchange factor for Rap1". FEBS Lett. 457 (1): 85–9. doi:10.1016/S0014-5793(99)01012-1. PMID 10486569. S2CID 20296877.

[entrez-7] 1 2 "Entrez Gene: RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5".

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RAPGEF5

References

Further reading