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RAPGEF5 Rap guanine nucleotide exchange factor 5 [ Homo sapiens (human) ]

Gene ID: 9771, updated on 27-Dec-2018

Summary

Official Symbol
RAPGEF5provided by HGNC
Official Full Name
Rap guanine nucleotide exchange factor 5provided by HGNC
Primary source
HGNC:HGNC:16862
See related
Ensembl:ENSG00000136237 MIM:609527
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GFR; REPAC; MR-GEF
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]
Expression
Broad expression in brain (RPKM 18.5), spleen (RPKM 13.5) and 23 other tissues See more
Orthologs

Genomic context

See RAPGEF5 in Genome Data Viewer
Location:
7p15.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (22118290..22357133, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22157908..22396751, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs807 Neighboring gene uncharacterized LOC102724143 Neighboring gene uncharacterized LOC105375184 Neighboring gene RNA, 5S ribosomal pseudogene 227 Neighboring gene HNF4 motif-containing MPRA enhancer 142 Neighboring gene GATA motif-containing MPRA enhancer 55/56 Neighboring gene STEAP family member 1B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0277

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rap guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rap guanine nucleotide exchange factor 5
Names
M-Ras-regulated GEF
M-Ras-regulated Rap GEF
Rap guanine nucleotide exchange factor (GEF) 5
guanine nucleotide exchange factor for Rap1
related to Epac

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001367600.1NP_001354529.1  rap guanine nucleotide exchange factor 5 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005079
  2. NM_001367601.1NP_001354530.1  rap guanine nucleotide exchange factor 5 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005079
  3. NM_001367602.1NP_001354531.1  rap guanine nucleotide exchange factor 5 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005079
  4. NM_001367603.1NP_001354532.1  rap guanine nucleotide exchange factor 5 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005079
  5. NM_012294.4NP_036426.4  rap guanine nucleotide exchange factor 5 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC005079
    Consensus CDS
    CCDS55093.1
    Related
    ENSP00000343656.6, ENST00000344041.10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    22118290..22357133 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249914.2XP_005249971.1  rap guanine nucleotide exchange factor 5 isoform X1

    Conserved Domains (3) summary
    smart00147
    Location:644883
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:372503
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd04437
    Location:103225
    DEP_Epac; DEP (Dishevelled, Egl-10, and Pleckstrin) domain found in Epac-like proteins. Epac (exchange proteins directly activated by cAMP) proteins are GEFs (guanine-nucleotide-exchange factors) for the small GTPases, Rap1 and Rap2. They are directly regulated by ...
  2. XM_005249916.1XP_005249973.1  rap guanine nucleotide exchange factor 5 isoform X3

    See identical proteins and their annotated locations for XP_005249973.1

    UniProtKB/TrEMBL
    A8MQ07
    Conserved Domains (3) summary
    smart00147
    Location:491730
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:219350
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cl02442
    Location:172
    DEP; DEP domain, named after Dishevelled, Egl-10, and Pleckstrin, where this domain was first discovered. The function of this domain is still not clear, but it is believed to be important for the membrane association of the signaling proteins in which it is ...
  3. XM_017012837.2XP_016868326.1  rap guanine nucleotide exchange factor 5 isoform X2

  4. XM_011515652.2XP_011513954.1  rap guanine nucleotide exchange factor 5 isoform X4

    Related
    ENSP00000384044.1, ENST00000401957.6
    Conserved Domains (2) summary
    smart00147
    Location:315554
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:43174
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
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