• Gene id: 2889

Gene Summary

• Gene Symbol: RAPGEF1   Gene   UCSC   Ensembl
• Aliases: C3G, GRF2
• Gene name: Rap guanine nucleotide exchange factor 1
• Alternate names: rap guanine nucleotide exchange factor 1, CRK SH3-binding GNRP, Rap guanine nucleotide exchange factor (GEF) 1, guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene),
• Gene location: 9q34.13 (131740075: 131576769)     Exons: 37     NC_000009.12
• Gene summary(Entrez): This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-
• OMIM: 600303

Protein Summary

• Protein general information: Q13905  
  • Name: Rap guanine nucleotide exchange factor 1 (CRK SH3 binding GNRP) (Guanine nucleotide releasing factor 2) (Protein C3G)
  • Length: 1077  
  • Mass: 120548
  • 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.
• Sequence:

  MDTDSQRSHLSSFTMKLMDKFHSPKIKRTPSKKGKPAEVSVKIPEKPVNKEATDRFLPEGYPLPLDLEQQAVEFM
  STSAVASRSQRQKNLSWLEEKEKEVVSALRYFKTIVDKMAIDKKVLEMLPGSASKVLEAILPLVQNDPRIQHSSA
  LSSCYSRVYQSLANLIRWSDQVMLEGVNSEDKEMVTTVKGVIKAVLDGVKELVRLTIEKQGRPSPTSPVKPSSPA
  SKPDGPAELPLTDREVEILNKTTGMSQSTELLPDATDEEVAPPKPPLPGIRVVDNSPPPALPPKKRQSAPSPTRV
  AVVAPMSRATSGSSLPVGINRQDFDVDCYAQRRLSGGSHSYGGESPRLSPCSSIGKLSKSDEQLSSLDRDSGQCS
  RNTSCETLDHYDPDYEFLQQDLSNADQIPQQTAWNLSPLPESLGESGSPFLGPPFQLPLGGHPQPDGPLAPGQQT
  DTPPALPEKKRRSAASQTADGSGCRVSYERHPSQYDNISGEDLQSTAPIPSVPYAPFAAILPFQHGGSSAPVEFV
  GDFTAPESTGDPEKPPPLPEKKNKHMLAYMQLLEDYSEPQPSMFYQTPQNEHIYQQKNKLLMEVYGFSDSFSGVD
  SVQELAPPPALPPKQRQLEPPAGKDGHPRDPSAVSGVPGKDSRDGSERAPKSPDALESAQSEEEVDELSLIDHNE
  IMSRLTLKQEGDDGPDVRGGSGDILLVHATETDRKDLVLYCEAFLTTYRTFISPEELIKKLQYRYEKFSPFADTF
  KKRVSKNTFFVLVRVVDELCLVELTEEILKLLMELVFRLVCNGELSLARVLRKNILDKVDQKKLLRCATSSQPLA
  ARGVAARPGTLHDFHSHEIAEQLTLLDAELFYKIEIPEVLLWAKEQNEEKSPNLTQFTEHFNNMSYWVRSIIMLQ
  EKAQDRERLLLKFIKIMKHLRKLNNFNSYLAILSALDSAPIRRLEWQKQTSEGLAEYCTLIDSSSSFRAYRAALS
  EVEPPCIPYLGLILQDLTFVHLGNPDYIDGKVNFSKRWQQFNILDSMRCFQQAHYDMRRNDDIINFFNDFSDHLA
  EEALWELSLKIKPRNITRRKTDREEKT

• Structural information:
  • Protein Domains: (688..81-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (840..106-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168"-)
  • Interpro: IPR008937  IPR000651  IPR019804  IPR023578  IPR001895   IPR036964  
  • Prosite: PS00720 PS50009 PS50212
  • CDD: cd00155 cd06224
  • PDB: 5L23
  • PDBsum: 5L23
  • DIP: 29392
  • STRING: ENSP00000361263
• Other Databases: GeneCards:  RAPGEF1  Malacards:  RAPGEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990090	cellular response to nerve growth factor stimulus	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0038180	nerve growth factor signaling pathway	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:1901888	regulation of cell junction assembly	IMP	biological process
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0032486	Rap protein signal transduction	IMP	biological process
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0010976	positive regulation of neuron projection development	IMP	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0000186	activation of MAPKK activity	TAS	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0046579	positive regulation of Ras protein signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0046328	regulation of JNK cascade	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:2000178	negative regulation of neural precursor cell proliferation	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0090630	activation of GTPase activity	IEA	biological process
GO:1905451	positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04510	Focal adhesion
hsa04910	Insulin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R