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RAPGEF3 - Rap guanine nucleotide exchange factor 3 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10411

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
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

RAPGEF3 抗体

製品番号	製品名	アプリケーション	反応性
HY-P80120	Epac1 Antibody (YA459)	WB, IHC-P, IP, ICC/IF	Human, Mouse

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS11662	RAPGEF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	RAPGEF3	NCBI