RAPGEF1 - Rap guanine nucleotide exchange factor 1 Gene

Homo sapiens

Also known as C3G; GRF2

Gene ID: 2889 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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