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 no... See more...

Aliases for ARHGEF1 Gene

Aliases for ARHGEF1 Gene

  • Rho Guanine Nucleotide Exchange Factor 1 2 3 3 4 5
  • Rho Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • 115 KDa Guanine Nucleotide Exchange Factor 3 4
  • P115RhoGEF 3 4
  • 115-KD Protein 3
  • Lsc Homolog 3
  • P115-RHOGEF 3
  • P115-RhoGEF 4
  • SUB1.5 3
  • Sub1.5 4
  • IMD62 3
  • LBCL2 3
  • GEF1 3
  • LSC 3

External Ids for ARHGEF1 Gene

Previous GeneCards Identifiers for ARHGEF1 Gene

  • GC19P043026
  • GC19P042778
  • GC19P047063
  • GC19P047079
  • GC19P042387
  • GC19P038818

Summaries for ARHGEF1 Gene

Entrez Gene Summary for ARHGEF1 Gene

  • 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]

GeneCards Summary for ARHGEF1 Gene

ARHGEF1 (Rho Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with ARHGEF1 include Immunodeficiency 62 and Enterocele. Among its related pathways are G-protein signaling_RhoA regulation pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF12.

UniProtKB/Swiss-Prot Summary for ARHGEF1 Gene

  • Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:9641915, PubMed:9641916, PubMed:8810315, PubMed:30521495). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430).

Gene Wiki entry for ARHGEF1 Gene

Additional gene information for ARHGEF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGEF1 Gene

Genomics for ARHGEF1 Gene

GeneHancer (GH) Regulatory Elements for ARHGEF1 Gene

Promoters and enhancers for ARHGEF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGEF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGEF1

Top Transcription factor binding sites by QIAGEN in the ARHGEF1 gene promoter:
  • MyoD

Genomic Locations for ARHGEF1 Gene

Genomic Locations for ARHGEF1 Gene
chr19:41,883,161-41,930,150
(GRCh38/hg38)
Size:
46,990 bases
Orientation:
Plus strand
chr19:42,387,228-42,434,302
(GRCh37/hg19)
Size:
47,075 bases
Orientation:
Plus strand

Genomic View for ARHGEF1 Gene

Genes around ARHGEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF1 Gene

Proteins for ARHGEF1 Gene

  • Protein details for ARHGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92888-ARHG1_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 1
    Protein Accession:
    Q92888
    Secondary Accessions:
    • O00513
    • Q6NX52
    • Q8N4J4
    • Q96BF4
    • Q96F17
    • Q9BSB1

    Protein attributes for ARHGEF1 Gene

    Size:
    912 amino acids
    Molecular mass:
    102435 Da
    Quaternary structure:
    • Interacts with RHOA, GNA12 and GNA13. Homooligomerizes through the coiled coil region. May interact with CCPG1 (By similarity). Interacts with CTNNAL1.
    SequenceCaution:
    • Sequence=CAA70356.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA70356.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF1 Gene

    Alternative splice isoforms for ARHGEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF1 Gene

Post-translational modifications for ARHGEF1 Gene

  • Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.
  • Ubiquitination at Lys510, Lys567, and Lys701
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARHGEF1 Gene

Domains & Families for ARHGEF1 Gene

Gene Families for ARHGEF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for ARHGEF1 Gene

Blocks:
  • DH domain
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGEF1 Gene

GenScript: Design optimal peptide antigens:
  • Sub1.5 (ARHG1_HUMAN)
  • ARHGEF1 protein (Q49AN3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92888

UniProtKB/Swiss-Prot:

ARHG1_HUMAN :
  • The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity.
Domain:
  • The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity.
  • The DH domain is involved in interaction with CCPG1.
genes like me logo Genes that share domains with ARHGEF1: view

Function for ARHGEF1 Gene

Molecular function for ARHGEF1 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:9641915, PubMed:9641916, PubMed:8810315, PubMed:30521495). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430).

Phenotypes From GWAS Catalog for ARHGEF1 Gene

Gene Ontology (GO) - Molecular Function for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with ARHGEF1: view
genes like me logo Genes that share phenotypes with ARHGEF1: view

Human Phenotype Ontology for ARHGEF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARHGEF1 Gene

MGI Knock Outs for ARHGEF1:

Animal Model Products

CRISPR Products

miRNA for ARHGEF1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARHGEF1 Gene

Localization for ARHGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF1 Gene

Cytoplasm. Membrane. Note=Translocated to the membrane by activated GNA13 or LPA stimulation.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGEF1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS,IEA 10747909
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ARHGEF1: view

Pathways & Interactions for ARHGEF1 Gene

genes like me logo Genes that share pathways with ARHGEF1: view

Pathways by source for ARHGEF1 Gene

3 GeneGo (Thomson Reuters) pathways for ARHGEF1 Gene
  • G-protein signaling G-Protein alpha-12 signaling pathway
  • G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
  • G-protein signaling_RhoA regulation pathway
24 Qiagen pathways for ARHGEF1 Gene
  • Activation of PKC through GPCR
  • Breast Cancer Regulation by Stathmin1
  • CXCR4 Pathway
  • G12-G13 in Cellular Signaling
  • G-AlphaI Signaling
1 Cell Signaling Technology pathway for ARHGEF1 Gene

SIGNOR curated interactions for ARHGEF1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007266 Rho protein signal transduction TAS 10747909
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ARHGEF1: view

Drugs & Compounds for ARHGEF1 Gene

(5) Drugs for ARHGEF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for ARHGEF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGEF1: view

Transcripts for ARHGEF1 Gene

mRNA/cDNA for ARHGEF1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: -
SP6: - - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11: -
SP12: - - - - -

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ARHGEF1 Gene

GeneLoc Exon Structure for
ARHGEF1

Expression for ARHGEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF1 Gene

This gene is overexpressed in Whole Blood (x9.4) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for ARHGEF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Tlymphocyte (14.1), Lymph node (9.0), CD8 Tcells (8.6), and NK cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGEF1 Gene



Protein tissue co-expression partners for ARHGEF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGEF1

SOURCE GeneReport for Unigene cluster for ARHGEF1 Gene:

Hs.631550

mRNA Expression by UniProt/SwissProt for ARHGEF1 Gene:

Q92888-ARHG1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for ARHGEF1 Gene

  • Liver(4.4)
  • Muscle(4.4)
  • Skin(3.3)
  • Blood(3.2)
  • Bone marrow(2.9)
  • Intestine(2.7)
  • Spleen(2.6)
  • Lung(2.5)
  • Nervous system(2.5)
  • Lymph node(2.4)
  • Gall bladder(2.2)
  • Eye(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ARHGEF1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGEF1 Gene

Orthologs for ARHGEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF1 31 30
  • 95.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGEF1 31 30
  • 86.26 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgef1 17 31 30
  • 86.11 (n)
dog
(Canis familiaris)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
ARHGEF1 30
  • 85.45 (n)
rat
(Rattus norvegicus)
Mammalia Arhgef1 30
  • 85.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF1 31
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 7 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 16 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef1 30
  • 61.33 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgef1b 31
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF2 31 32
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F13E6.6 32
  • 35 (a)
rhgf-1 31
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 31
  • 10 (a)
ManyToMany
ROM2 31
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for ARHGEF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGEF1 Gene

ENSEMBL:
Gene Tree for ARHGEF1 (if available)
TreeFam:
Gene Tree for ARHGEF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGEF1: view image