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

Gene ID: 9138, updated on 12-May-2016
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 HPRD:03511; 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:
19q13.13
Exon count:
32
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (41883173..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

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...
  • 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
  • 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
  • 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...
  • 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
 
Rho guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
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, OTTHUMP00000270011, ENST00000354532, 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
    cd00160
    Location:417603
    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.
    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, OTTHUMP00000269848, ENST00000347545, OTTHUMT00000463063
    Conserved Domains (4) summary
    pfam05887
    Location:282377
    Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    cd00160
    Location:384570
    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.
    cl02565
    Location:52211
    RGS; Regulator of G protein signaling (RGS) domain superfamily
    cd14679
    Location:605729
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  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, OTTHUMP00000270014, ENST00000337665, 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
    cd00160
    Location:432618
    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.
    cd14679
    Location:653777
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    41883173..41907454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259388.2XP_005259445.1  

    Conserved Domains (4) summary
    cd08755
    Location:52244
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    cd00160
    Location:477663
    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.
    pfam13136
    Location:359442
    DUF3984; Protein of unknown function (DUF3984)
    cd14679
    Location:698822
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  2. XM_006723463.2XP_006723526.1  

    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
    cd00160
    Location:492678
    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.
    pfam13136
    Location:374457
    DUF3984; Protein of unknown function (DUF3984)
  3. XM_005259386.3XP_005259443.1  

    Conserved Domains (4) summary
    cd08755
    Location:67259
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    cd00160
    Location:492678
    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.
    pfam13136
    Location:374453
    DUF3984; Protein of unknown function (DUF3984)
    cd14679
    Location:713837
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  4. XM_005259387.3XP_005259444.1  

    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
    cd00160
    Location:488674
    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.
    cd14679
    Location:709833
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  5. XM_011527468.1XP_011525770.1  

    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
    cd00160
    Location:436622
    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.
    cd14679
    Location:657781
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  6. XM_005259390.3XP_005259447.1  

    Related
    ENSP00000367394, OTTHUMP00000270013, ENST00000378152, 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
    cd00160
    Location:432618
    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.
    cd14679
    Location:653777
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain
  7. XM_005259389.3XP_005259446.1  

    Conserved Domains (4) summary
    cd08755
    Location:67259
    RGS_p115RhoGEF; Regulator of G protein signaling (RGS) domain found in the Rho guanine nucleotide exchange factor (GEF), p115 RhoGEF
    cd00160
    Location:492678
    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.
    pfam13136
    Location:374457
    DUF3984; Protein of unknown function (DUF3984)
    cd14679
    Location:713837
    PH_p115RhoGEF; Rho guanine nucleotide exchange factor Pleckstrin homology domain

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

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