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    ARHGEF1 Rho guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 9138, updated on 10-May-2017
    Official Symbol
    ARHGEF1provided by HGNC
    Official Full Name
    Rho guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:681
    See related
    Ensembl:ENSG00000076928 MIM:601855; Vega:OTTHUMG00000182679
    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
    LSC; GEF1; LBCL2; SUB1.5; P115-RHOGEF
    Summary
    Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    19q13.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (41883200..41907454)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42387240..42411604)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 Neighboring gene microRNA 6797 Neighboring gene CD79a molecule Neighboring gene Ets2 repressor factor-like Neighboring gene uncharacterized LOC100505585

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env The interaction of the long cytoplasmic tail of HIV-1 gp41 with the carboxy-terminal regulatory domain of p115-RhoGEF inhibits p115-mediated actin stress fiber formation and activation of serum response factor (SRF) PubMed

    Go to the HIV-1, Human Interaction Database

    • Axonal growth inhibition (RHOA activation), organism-specific biosystem (from REACTOME)
      Axonal growth inhibition (RHOA activation), organism-specific biosystemp75NTR can also form a receptor complex with the Nogo receptor (NgR). Such complexes mediates axonal outgrowth inhibitory signals of MDGIs (myelin-derived growth-inhibitors), such as Nogo66, myelin-a...
    • 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...
    • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
    • G Protein Signaling Pathways, organism-specific biosystem (from WikiPathways)
      G Protein Signaling Pathways, organism-specific biosystemG proteins, short for guanine nucleotide-binding proteins, are a family of proteins involved in second messenger cascades. G proteins are so called because they function as "molecular switches". They...
    • 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...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • 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...
    • LPA receptor mediated events, organism-specific biosystem (from Pathway Interaction Database)
      LPA receptor mediated events, organism-specific biosystem
      LPA receptor mediated events
    • 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...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Platelet activation, organism-specific biosystem (from KEGG)
      Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • 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...
    • Thromboxane A2 receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Thromboxane A2 receptor signaling, organism-specific biosystem
      Thromboxane A2 receptor signaling
    • Vascular smooth muscle contraction, organism-specific biosystem (from KEGG)
      Vascular smooth muscle contraction, organism-specific biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • Vascular smooth muscle contraction, conserved biosystem (from KEGG)
      Vascular smooth muscle contraction, conserved biosystemThe vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regula...
    • 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 ...
    • p75NTR regulates axonogenesis, organism-specific biosystem (from REACTOME)
      p75NTR regulates axonogenesis, organism-specific biosystemp75NTR modulates axonal growth by regulating the activity of small GTPases like RHOA and RHOB, that control the state of actin polymerization. The best studied is RHOA. In its active, GTP-bound form,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Rho guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    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 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of axonogenesis TAS
    Traceable Author Statement
    more info
     
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    rho guanine nucleotide exchange factor 1
    Names
    115 kDa guanine nucleotide exchange factor
    115-kD protein
    Lsc homolog
    Rho guanine nucleotide exchange factor (GEF) 1
    p115RhoGEF

    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_004706.3NP_004697.2  rho guanine nucleotide exchange factor 1 isoform 2

      See identical proteins and their annotated locations for NP_004697.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream start codon, as compared to variant 1. The encoded isoform 2 thus has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      BC005155, BC011726, BM147791
      Consensus CDS
      CCDS12591.1
      UniProtKB/Swiss-Prot
      Q92888
      UniProtKB/TrEMBL
      A0A024R0R1
      Related
      ENSP00000346532.2, OTTHUMP00000270011, ENST00000354532.7, OTTHUMT00000463360
      Conserved Domains (4) summary
      pfam05887
      Location:315410
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:52244
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:420604
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:638762
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    2. NM_198977.1NP_945328.1  rho guanine nucleotide exchange factor 1 isoform 3

      See identical proteins and their annotated locations for NP_945328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and lacks an in-frame internal exon, as compared to variant 1. The encoded isoform 3 thus has a shorter N-terminus and lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      BC011726, BM147791
      Consensus CDS
      CCDS12592.1
      UniProtKB/Swiss-Prot
      Q92888
      Related
      ENSP00000344429.3, OTTHUMP00000269848, ENST00000347545.8, OTTHUMT00000463063
      Conserved Domains (4) summary
      pfam05887
      Location:282377
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      smart00325
      Location:387571
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:605729
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
      cl02565
      Location:52211
      RGS; Regulator of G protein signaling (RGS) domain superfamily
    3. NM_199002.1NP_945353.1  rho guanine nucleotide exchange factor 1 isoform 1

      See identical proteins and their annotated locations for NP_945353.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC011726, BC034013, BQ944132
      Consensus CDS
      CCDS12590.1
      UniProtKB/Swiss-Prot
      Q92888
      Related
      ENSP00000337261.3, OTTHUMP00000270014, ENST00000337665.8, OTTHUMT00000463366
      Conserved Domains (4) summary
      pfam05887
      Location:330425
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:67259
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:435619
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:653777
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

      Range
      41883200..41907454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259386.4XP_005259443.1  rho guanine nucleotide exchange factor 1 isoform X1

      Conserved Domains (3) summary
      cd08755
      Location:67259
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:495679
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:713837
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    2. XM_011527468.2XP_011525770.1  rho guanine nucleotide exchange factor 1 isoform X2

      Conserved Domains (4) summary
      pfam05887
      Location:330416
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:67259
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:439623
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:657781
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
    3. XM_005259390.4XP_005259447.1  rho guanine nucleotide exchange factor 1 isoform X3

      Related
      ENSP00000367394.3, OTTHUMP00000270013, ENST00000378152.8, OTTHUMT00000463365
      Conserved Domains (4) summary
      pfam05887
      Location:330425
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
      cd08755
      Location:67259
      RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
      smart00325
      Location:435619
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd14679
      Location:653777
      PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

    RNA

    1. XR_001753786.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      42388735..42412987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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