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    ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3 [ Homo sapiens (human) ]

    Gene ID: 50650, updated on 18-Jul-2015
    Official Symbol
    ARHGEF3provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor (GEF) 3provided by HGNC
    Primary source
    HGNC:HGNC:683
    See related
    Ensembl:ENSG00000163947; HPRD:12480; MIM:612115; Vega:OTTHUMG00000158857
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GEF3; STA3; XPLN
    Summary
    Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    See ARHGEF3 in Epigenomics, MapViewer
    Location:
    3p14.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (56727418..57079308, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (56761446..57113336, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ELKS/RAB6-interacting/CAST family member 2 Neighboring gene uncharacterized LOC105377099 Neighboring gene coiled-coil domain containing 66 Neighboring gene family with sequence similarity 208, member A Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene uncharacterized LOC105377101 Neighboring gene spermatogenesis associated 12 Neighboring gene interleukin 17 receptor D Neighboring gene ribosomal protein L19 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    NHGRI GWA Catalog
    A genome-wide association study identifies three loci associated with mean platelet volume.
    NHGRI GWA Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci.
    NHGRI GWA Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ98126, MGC118905, DKFZp434F2429

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rho protein signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of GTPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    rho guanine nucleotide exchange factor 3
    Names
    59.8 kDA protein
    RhoGEF protein
    exchange factor found in platelets and leukemic and neuronal tissues, XPLN

    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_001128615.1NP_001122087.1  rho guanine nucleotide exchange factor 3 isoform 1

      See identical proteins and their annotated locations for NP_001122087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF433662, AL136832, DC334772
      Consensus CDS
      CCDS46854.1
      UniProtKB/Swiss-Prot
      Q9NR81
      Related
      ENSP00000341071, OTTHUMP00000213599, ENST00000338458, OTTHUMT00000352432
      Conserved Domains (2) summary
      cd00160
      Location:155334
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:348480
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    2. NM_001128616.1NP_001122088.1  rho guanine nucleotide exchange factor 3 isoform 2

      See identical proteins and their annotated locations for NP_001122088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a distinct and shorter N-terminus, as compared to isoform 1. Isoforms 2 and 4 are the same length but have different N-termini.
      Source sequence(s)
      AB209661, AF433662, AL136832, DC334437
      Consensus CDS
      CCDS46855.1
      UniProtKB/Swiss-Prot
      Q9NR81
      Related
      ENSP00000410922, OTTHUMP00000213600, ENST00000413728, OTTHUMT00000352433
      Conserved Domains (2) summary
      cd00160
      Location:129308
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:322454
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    3. NM_001289698.1NP_001276627.1  rho guanine nucleotide exchange factor 3 isoform 4

      See identical proteins and their annotated locations for NP_001276627.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (4) has a distinct and shorter N-terminus, as compared to isoform 1. Isoforms 2 and 4 are the same length but have different N-termini.
      Source sequence(s)
      AF433662, AK300045, AL136832
      Consensus CDS
      CCDS74948.1
      UniProtKB/TrEMBL
      B7Z6B2
      UniProtKB/TrEMBL
      E9PG37
      UniProtKB/Swiss-Prot
      Q9NR81
      Conserved Domains (2) summary
      cd00160
      Location:129308
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:322454
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    4. NM_019555.2NP_062455.1  rho guanine nucleotide exchange factor 3 isoform 3

      See identical proteins and their annotated locations for NP_062455.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several 5' exons but has an alternate 5' exon, as compared to variant 1. The resulting isoform (3) has a distinct and shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AF433662, AL136832, DA401228
      Consensus CDS
      CCDS2878.1
      UniProtKB/Swiss-Prot
      Q9NR81
      Related
      ENSP00000296315, OTTHUMP00000213598, ENST00000296315, OTTHUMT00000352431
      Conserved Domains (2) summary
      cd00160
      Location:123302
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:316448
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

      Range
      56727418..57079308
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533765.1XP_011532067.1  

      See identical proteins and their annotated locations for XP_011532067.1

      Conserved Domains (2) summary
      cd00160
      Location:124303
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:317449
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    2. XM_005265187.2XP_005265244.1  

      See identical proteins and their annotated locations for XP_005265244.1

      UniProtKB/Swiss-Prot
      Q9NR81
      Conserved Domains (2) summary
      cd00160
      Location:155334
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:348480
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    3. XM_011533766.1XP_011532068.1  

      See identical proteins and their annotated locations for XP_011532068.1

      Conserved Domains (2) summary
      cd00160
      Location:124303
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:317449
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    4. XM_005265186.3XP_005265243.1  

      See identical proteins and their annotated locations for XP_005265243.1

      UniProtKB/Swiss-Prot
      Q9NR81
      Conserved Domains (2) summary
      cd00160
      Location:155334
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:348480
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    5. XM_005265188.3XP_005265245.1  

      See identical proteins and their annotated locations for XP_005265245.1

      Conserved Domains (2) summary
      cd00160
      Location:135314
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:328460
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    6. XM_011533764.1XP_011532066.1  

      See identical proteins and their annotated locations for XP_011532066.1

      Conserved Domains (2) summary
      cd00160
      Location:141320
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:334466
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
    7. XM_011533767.1XP_011532069.1  

      Conserved Domains (2) summary
      cd00160
      Location:9188
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd10572
      Location:202334
      PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      56712114..57063671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)