RAPGEF5 - Rap guanine nucleotide exchange factor 5 Gene

Also Known as GFR; MRGEF; REPAC; MR-GEF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9771

About RAPGEF5

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:22,118,236-22,357,154 (from NCBI)

This gene has 13 transcripts (splice variants), 256 orthologues and 24 paralogues. Broad expression in brain (RPKM 18.5), spleen (RPKM 13.5) and 23 other tissues.

Summary

Members of the Ras (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as Ras activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and Ras activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

RAPGEF5 Products (5)

mRNA Protein Name
NM_001367600.2 NP_001354529.1 rap guanine nucleotide exchange factor 5 isoform 2
NM_001367601.1 NP_001354530.1 rap guanine nucleotide exchange factor 5 isoform 3
NM_001367602.2 NP_001354531.1 rap guanine nucleotide exchange factor 5 isoform 4
NM_001367603.1 NP_001354532.1 rap guanine nucleotide exchange factor 5 isoform 5
NM_012294.5 NP_036426.4 rap guanine nucleotide exchange factor 5 isoform 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTP-dependent protein binding IPI
IPI: Inferred from physical interaction
10934204 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
10486569 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
10486569 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

RAPGEF5 Protein Structure

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (72 - 162)

RasGEF

RasGEF: RasGEF domain (344 - 525)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 580 a.a.
Protein Preferred Names Protein Names

rap guanine nucleotide exchange factor 5

  • M-Ras-regulated GEF

RAPGEF5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAPGEF5 Q92565 ANK3 Homo sapiens Q12955
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cardiomyopathy, Dilated, 1a

  • Dilated Cardiomyopathy 1a

  • Cdcd1

  • CMD1A

  • Cardiomyopathy, Familial Idiopathic

  • Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

  • Cardiomyopathy, Dilated, With Conduction Defect 1

  • Cardiomyopathy, Idiopathic Dilated

  • Cardiomyopathy, Congestive

  • Dilated Cardiomyopathy With Conduction Defect 1

  • Cardiomyopathy Dilated With Conduction Defect Type 1

  • Cardiomyopathy, Dilated 1a

  • Cardiomyopathy Dilated With Conduction Defect 1

  • Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h

  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect
Familial Isolated Hypoparathyroidism

  • Fih
Dilated Cardiomyopathy

  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy
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-RS11664 RAPGEF5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RAPGEF5 VGNC VGNC:76494
Rattus norvegicus RAPGEF5 RGD RGD:1561668
Mus musculus RAPGEF5 MGD MGI:2444365
Bos taurus RAPGEF5 VGNC VGNC:33726
Canis familiaris RAPGEF5 VGNC VGNC:45349
Others RAPGEF5 NCBI