RAPGEF1

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

RAPGEF1
Identifiers
AliasesRAPGEF1, C3G, GRF2, Rap guanine nucleotide exchange factor 1
External IDsOMIM: 600303 MGI: 104580 HomoloGene: 50501 GeneCards: RAPGEF1
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.13Start131,576,770 bp[1]
End131,740,074 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

2889

107746

Ensembl

ENSG00000107263

ENSMUSG00000039844

UniProt

Q13905

n/a

RefSeq (mRNA)

NM_001039086
NM_001039087
NM_054050
NM_001362702

RefSeq (protein)

n/a

Location (UCSC)Chr 9: 131.58 – 131.74 MbChr 2: 29.62 – 29.74 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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:

References
  1. GRCh38: Ensembl release 89: ENSG00000107263 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039844 - 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. Takai S, Tanaka M, Sugimura H, Yamada K, Naito Y, Kino I, Matsuda M (Nov 1994). "Mapping of the human C3G gene coding a guanine nucleotide releasing protein for Ras family to 9q34.3 by fluorescence in situ hybridization". Human Genetics. 94 (5): 549–50. doi:10.1007/bf00211024. PMID 7959692. S2CID 34197232.
  6. Tanaka S, Morishita T, Hashimoto Y, Hattori S, Nakamura S, Shibuya M, Matuoka K, Takenawa T, Kurata T, Nagashima K (Apr 1994). "C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins". Proceedings of the National Academy of Sciences of the United States of America. 91 (8): 3443–7. doi:10.1073/pnas.91.8.3443. PMC 43593. PMID 7512734.
  7. "Entrez Gene: RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1".
  8. Kirsch KH, Georgescu MM, Hanafusa H (Oct 1998). "Direct binding of p130(Cas) to the guanine nucleotide exchange factor C3G". The Journal of Biological Chemistry. 273 (40): 25673–9. doi:10.1074/jbc.273.40.25673. PMID 9748234.
  9. Smit L, van der Horst G, Borst J (Apr 1996). "Sos, Vav, and C3G participate in B cell receptor-induced signaling pathways and differentially associate with Shc-Grb2, Crk, and Crk-L adaptors". The Journal of Biological Chemistry. 271 (15): 8564–9. doi:10.1074/jbc.271.15.8564. PMID 8621483.
  10. Kyono WT, de Jong R, Park RK, Liu Y, Heisterkamp N, Groffen J, Durden DL (Nov 1998). "Differential interaction of Crkl with Cbl or C3G, Hef-1, and gamma subunit immunoreceptor tyrosine-based activation motif in signaling of myeloid high affinity Fc receptor for IgG (Fc gamma RI)". Journal of Immunology. 161 (10): 5555–63. PMID 9820532.
  11. Grumbach IM, Mayer IA, Uddin S, Lekmine F, Majchrzak B, Yamauchi H, Fujita S, Druker B, Fish EN, Platanias LC (Feb 2001). "Engagement of the CrkL adaptor in interferon alpha signalling in BCR-ABL-expressing cells". British Journal of Haematology. 112 (2): 327–36. doi:10.1046/j.1365-2141.2001.02556.x. PMID 11167825. S2CID 85033851.
  12. Ahmad S, Alsayed YM, Druker BJ, Platanias LC (Nov 1997). "The type I interferon receptor mediates tyrosine phosphorylation of the CrkL adaptor protein". The Journal of Biological Chemistry. 272 (48): 29991–4. doi:10.1074/jbc.272.48.29991. PMID 9374471.
  13. Chin H, Saito T, Arai A, Yamamoto K, Kamiyama R, Miyasaka N, Miura O (Oct 1997). "Erythropoietin and IL-3 induce tyrosine phosphorylation of CrkL and its association with Shc, SHP-2, and Cbl in hematopoietic cells". Biochemical and Biophysical Research Communications. 239 (2): 412–7. doi:10.1006/bbrc.1997.7480. PMID 9344843.
  14. Wu C, Lai CF, Mobley WC (Aug 2001). "Nerve growth factor activates persistent Rap1 signaling in endosomes". The Journal of Neuroscience. 21 (15): 5406–16. doi:10.1523/JNEUROSCI.21-15-05406.2001. PMID 11466412.
  15. Sakkab D, Lewitzky M, Posern G, Schaeper U, Sachs M, Birchmeier W, Feller SM (Apr 2000). "Signaling of hepatocyte growth factor/scatter factor (HGF) to the small GTPase Rap1 via the large docking protein Gab1 and the adapter protein CRKL". The Journal of Biological Chemistry. 275 (15): 10772–8. doi:10.1074/jbc.275.15.10772. PMID 10753869.
  16. Shivakrupa R, Radha V, Sudhakar Ch, Swarup G (Dec 2003). "Physical and functional interaction between Hck tyrosine kinase and guanine nucleotide exchange factor C3G results in apoptosis, which is independent of C3G catalytic domain". The Journal of Biological Chemistry. 278 (52): 52188–94. doi:10.1074/jbc.M310656200. PMID 14551197.

Further reading
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