RAPGEF5

Protein-coding gene in the species Homo sapiens
RAPGEF5
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1WGY

Identifiers
AliasesRAPGEF5, GFR, MR-GEF, REPAC, Rap guanine nucleotide exchange factor 5, MRGEF
External IDsOMIM: 609527; MGI: 2444365; HomoloGene: 56563; GeneCards: RAPGEF5; OMA:RAPGEF5 - orthologs
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for RAPGEF5
Genomic location for RAPGEF5
Band7p15.3Start22,118,236 bp[1]
End22,357,154 bp[1]
Gene location (Mouse)
Chromosome 12 (mouse)
Chr.Chromosome 12 (mouse)[2]
Chromosome 12 (mouse)
Genomic location for RAPGEF5
Genomic location for RAPGEF5
Band12|12 F2Start117,480,099 bp[2]
End117,723,472 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
BioGPS
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
SpeciesHumanMouse
Entrez

9771

217944

Ensembl

ENSG00000136237

ENSMUSG00000041992

UniProt

Q92565

Q8C0Q9

RefSeq (mRNA)

NM_012294
NM_001367600
NM_001367601
NM_001367602
NM_001367603

NM_175930
NM_001373989

RefSeq (protein)

NP_036426
NP_001354529
NP_001354530
NP_001354531
NP_001354532

NP_787126
NP_001360918

Location (UCSC)Chr 7: 22.12 – 22.36 MbChr 12: 117.48 – 117.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000136237 – Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5".

Further reading

  • 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.
  • v
  • t
  • e
  • 1wgy: RA domain of guanine nucleotide exchange factor for Rap1
    1wgy: RA domain of guanine nucleotide exchange factor for Rap1


Stub icon

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it.

  • v
  • t
  • e