RAPGEF3 - Rap guanine nucleotide exchange factor 3 Gene

Homo sapiens

Also known as EPAC; EPAC1; bcm910; HSU79275; CAMP-GEFI

Gene ID: 10411 | Gene type: protein coding

About RAPGEF3

Cytogenetic location: 12q13.11 Genomic coordinates (GRCh38): 12:47,734,363-47,758,880 (from NCBI)

This gene has 20 transcripts (splice variants), 205 orthologues and 24 paralogues. Broad expression in fat (RPKM 15.0), thyroid (RPKM 13.2) and 22 other tissues.

Summary

Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including positive regulation of protein modification process; regulation of actin Cytoskeleton organization; and regulation of syncytium formation by plasma membrane fusion. Located in filopodium; lamellipodium; and microvillus. Colocalizes with cortical actin Cytoskeleton and plasma membrane. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Apr 2022]

RAPGEF3 Products(3)

mRNA	Protein	Name
NM_001098531.4	NP_001092001.2	rap guanine nucleotide exchange factor 3 isoform a
NM_001098532.2	NP_001092002.1	rap guanine nucleotide exchange factor 3 isoform b
NM_006105.5	NP_006096.2	rap guanine nucleotide exchange factor 3 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	EXP EXP: Inferred from Experiment	15334074	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	21840392	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21393242	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	21047789	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 establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	23867755	GOA
involved in negative regulation of syncytium formation by plasma membrane fusion	IMP IMP: Inferred from mutant phenotype	23867755	GOA
involved in positive regulation of GTPase activity	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in positive regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	21393242	GOA
involved in positive regulation of protein export from nucleus	IDA IDA: Inferred from direct assay	23867755	GOA
involved in positive regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in positive regulation of syncytium formation by plasma membrane fusion	IMP IMP: Inferred from mutant phenotype	23867755	GOA
involved in regulation of actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	21840392	GOA
involved in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	21840392	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with cortical actin cytoskeleton	IDA IDA: Inferred from direct assay	21047789	GOA
located in filopodium	IDA IDA: Inferred from direct assay	21047789	GOA
located in lamellipodium	IDA IDA: Inferred from direct assay	21047789	GOA
located in microvillus	IDA IDA: Inferred from direct assay	21047789	GOA
colocalizes with plasma membrane	IDA IDA: Inferred from direct assay	21047789	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

RAPGEF3 Protein Structure

DEP

cNMP_binding

RasGEF_N

RasGEF

0
200
400
600
800
923 a.a.

Protein Preferred Names

Protein Names

rap guanine nucleotide exchange factor 3

9330170P05Rik

RAPGEF3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAPGEF3	O95398	PDE3B	Homo sapiens	Q13370	Anti Tag CoIP	21393242
Intra	RAPGEF3	O95398	PDE3B	Homo sapiens	Q13370	Peptide Array	21393242
Intra	RAPGEF3	O95398	PDE3B	Homo sapiens	Q13370	Pull Down	21393242

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Inhalation Anthrax

Pulmonary Anthrax	Respiratory Anthrax
Inhalational Anthrax	Wool-Sorters' Disease
Woolsorters' Disease	Inhalation Anthrax Disease
Respiratory Anthrax Disease

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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-RS11662	RAPGEF3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RAPGEF3	VGNC	VGNC:76491
Mus musculus	RAPGEF3	MGD	MGI:2441741
Rattus norvegicus	RAPGEF3	RGD	RGD:621869
Bos taurus	RAPGEF3	VGNC	VGNC:33724
Canis familiaris	RAPGEF3	VGNC	VGNC:45348
Felis catus	RAPGEF3	VGNC	VGNC:97599

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