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

    Gene ID: 9771, updated on 5-Jan-2022

    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; MRGEF; 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
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    Genomic context

    See RAPGEF5 in Genome Data Viewer
    Location:
    7p15.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (22118236..22357154, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (22157854..22396773, 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

    Associated conditions

    Description Tests
    A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
    GeneReviews: Not available
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    GeneReviews: Not available

    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
    enables GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in small GTPase mediated signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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_001367600.2NP_001354529.1  rap guanine nucleotide exchange factor 5 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005079
      Related
      ENSP00000384044.1, ENST00000401957.6
    2. NM_001367601.1NP_001354530.1  rap guanine nucleotide exchange factor 5 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005079
    3. NM_001367602.2NP_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_012294.5NP_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
      ENSP00000499535.1, ENST00000665637.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      22118236..22357154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
      Related
      ENSP00000343656.6, ENST00000344041.10
      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 ...
    2. XM_017012837.2XP_016868326.1  rap guanine nucleotide exchange factor 5 isoform X2

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

      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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