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

Gene ID: 50650, updated on 11-Sep-2014
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]
See ARHGEF3 in Epigenomics, MapViewer
Location:
3p14.3
Exon count:
19
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 RNA, 5S ribosomal pseudogene 133 Neighboring gene coiled-coil domain containing 66 Neighboring gene family with sequence similarity 208, member A Neighboring gene ARHGEF3 antisense RNA 1 Neighboring gene spermatogenesis associated 12 Neighboring gene interleukin 17 receptor D Neighboring gene ribosomal protein L19 pseudogene 2 Neighboring gene HESX homeobox 1

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
 
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
rho guanine nucleotide exchange factor 3
RhoGEF protein
59.8 kDA 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 proteins identical to 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
    Blast Score: 359
    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:338480
    Blast Score: 728
    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 proteins identical to 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
    Blast Score: 357
    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:312454
    Blast Score: 730
    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 proteins identical to 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
    Blast Score: 356
    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:312454
    Blast Score: 727
    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 proteins identical to 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
    Blast Score: 359
    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:306448
    Blast Score: 733
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

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

mRNA and Protein(s)

  1. XM_005265187.1XP_005265244.1  

    See proteins identical to XP_005265244.1

    UniProtKB/Swiss-Prot
    Q9NR81
    Conserved Domains (2) summary
    cd00160
    Location:155334
    Blast Score: 359
    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:338480
    Blast Score: 728
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
  2. XM_005265186.2XP_005265243.1  

    See proteins identical to XP_005265243.1

    UniProtKB/Swiss-Prot
    Q9NR81
    Conserved Domains (2) summary
    cd00160
    Location:155334
    Blast Score: 359
    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:338480
    Blast Score: 728
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
  3. XM_005265188.2XP_005265245.1  

    Conserved Domains (2) summary
    cd00160
    Location:135314
    Blast Score: 358
    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:318460
    Blast Score: 728
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain
  4. XM_005265189.1XP_005265246.1  

    Conserved Domains (2) summary
    cd00160
    Location:129308
    Blast Score: 356
    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:312454
    Blast Score: 727
    PH_RhoGEF3_XPLN; Rho guanine nucleotide exchange factor 3 Pleckstrin homology (PH) domain

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    56809905..57161427
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

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