RAPGEF1 - Rap guanine nucleotide exchange factor 1 Gene

Also Known as C3G; GRF2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2889

About RAPGEF1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:131,576,775-131,740,076 (from NCBI)

This gene has 8 transcripts (splice variants), 252 orthologues and 24 paralogues. Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 12.3) and 25 other tissues.

Summary

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-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

RAPGEF1 Products (7)

mRNA	Protein	Name
NM_001304275.2	NP_001291204.1	rap guanine nucleotide exchange factor 1 isoform c
NM_001377935.1	NP_001364864.1	rap guanine nucleotide exchange factor 1 isoform d
NM_001377936.1	NP_001364865.1	rap guanine nucleotide exchange factor 1 isoform e
NM_001377937.1	NP_001364866.1	rap guanine nucleotide exchange factor 1 isoform f
NM_001377938.1	NP_001364867.1	rap guanine nucleotide exchange factor 1 isoform g
NM_005312.4	NP_005303.2	rap guanine nucleotide exchange factor 1 isoform a
NM_198679.2	NP_941372.1	rap guanine nucleotide exchange factor 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	10548487	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	21840392	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9748234	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Rap protein signal transduction	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in cellular response to cAMP	IDA IDA: Inferred from direct assay	21840392	GOA
involved in cellular response to nerve growth factor stimulus	IDA IDA: Inferred from direct assay	17724123	GOA
involved in establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in nerve growth factor signaling pathway	IDA IDA: Inferred from direct assay	17724123	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	10548487	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in positive regulation of neuron projection development	IMP IMP: Inferred from mutant phenotype	17724123	GOA
involved in regulation of cell junction assembly	IMP IMP: Inferred from mutant phenotype	21840392	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	17515907	GOA
located in early endosome	IDA IDA: Inferred from direct assay	17724123	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAPGEF1 Protein Structure

RasGEF_N

RasGEF

0
200
400
600
800
1000
1077 a.a.

Protein Preferred Names	Protein Names
rap guanine nucleotide exchange factor 1	CRK SH3-binding GNRP

RAPGEF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RAPGEF1	Q13905	CRK	Homo sapiens	P46108-1	Anti Bait CoIP	19001122
Intra	RAPGEF1	Q13905	ABL1	Homo sapiens	P00519	Anti Bait CoIP	16443220
Intra	RAPGEF1	Q13905	ABL1	Homo sapiens	P00519	Pull Down	16443220
Intra	RAPGEF1	Q13905	ABL1	Homo sapiens	P00519	Peptide Array	17474147
Intra	RAPGEF1	Q13905	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	RAPGEF1	Q13905	FYN	Homo sapiens	P06241	Peptide Array	17474147
Intra	RAPGEF1	Q13905	PIK3R1	Homo sapiens	P27986	Peptide Array	17474147
Intra	RAPGEF1	Q13905	CRK	Homo sapiens	P46108	Peptide Array	17474147
Intra	RAPGEF1	Q13905	CRKL	Homo sapiens	P46109	Anti Tag CoIP	33961781
Intra	RAPGEF1	Q13905	CRKL	Homo sapiens	P46109	Anti Bait CoIP	16443220

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nephrotic Syndrome, Type 7	Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7 NPHS7 Nephrotic Syndrome Type 7 Ig-Mediated Membranoproliferative Glomerulonephritis Ig-Mediated Mpgn Immunoglobulin-Mediated Mpgn Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical 7 Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis Hemolytic Uremic Syndrome With Dgke Deficiency Hus With Dgke Deficiency Hemolytic Uremic Syndrome Atypical 7 AHUS7 Nephrotic Syndrome 7 Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis
Exudative Glomerulonephritis
Transient Refractive Change
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
Proliferative Glomerulonephritis
Crescentic Glomerulonephritis	Idiopathic Crescentic Glomerulonephritis
Acute Proliferative Glomerulonephritis	Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis Acute Post-Streptococcal Glomerulonephritis
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11660	RAPGEF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RAPGEF1	RGD	RGD:619793
Bos taurus	RAPGEF1	VGNC	VGNC:33722
Canis familiaris	RAPGEF1	VGNC	VGNC:45346
Mus musculus	RAPGEF1	MGD	MGI:104580
Felis catus	RAPGEF1	VGNC	VGNC:67459
Macaca mulatta	RAPGEF1	VGNC	VGNC:76582
Others	RAPGEF1	NCBI