RAPGEF5 - Rap guanine nucleotide exchange factor 5 Gene

Homo sapiens

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

Gene ID: 9771 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11664	RAPGEF5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.