RAPGEF3 - Rap guanine nucleotide exchange factor 3 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene 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
Molecular Function GO Annotation Evidence References 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 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 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 References 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

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (116 - 184)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (268 - 347)

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (388 - 492)

RasGEF

RasGEF: RasGEF domain (661 - 844)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAPGEF3 O95398 PDE3B Homo sapiens Q13370 21393242
Intra
RAPGEF3 O95398 PDE3B Homo sapiens Q13370 21393242
Intra
RAPGEF3 O95398 PDE3B Homo sapiens Q13370 21393242
Cross: Cross-species interaction Intra: Intraspecies interaction

RAPGEF3 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80120 Epac1 Antibody (YA459) WB, IHC-P, IP, ICC/IF Human, Mouse

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

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
Others RAPGEF3 NCBI