This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012] See more...

Aliases for ARHGAP1 Gene

Aliases for ARHGAP1 Gene

  • Rho GTPase Activating Protein 1 2 3 5
  • Rho-Related Small GTPase Protein Activator 3 4
  • Rho-Type GTPase-Activating Protein 1 3 4
  • GTPase-Activating Protein RhoGAP 3 4
  • Rho GTPase-Activating Protein 1 3 4
  • CDC42 GTPase-Activating Protein 3 4
  • CDC42GAP 3 4
  • RHOGAP1 3 4
  • GTPase-Activating Protein RhoOGAP 3
  • GTPase-Activating Protein, Rho, 1 3
  • P50-RhoGAP 4
  • P50rhoGAP 3
  • RHOGAP 3

External Ids for ARHGAP1 Gene

Previous GeneCards Identifiers for ARHGAP1 Gene

  • GC11M048679
  • GC11M047576
  • GC11M046730
  • GC11M046662
  • GC11M046655
  • GC11M046404
  • GC11M046698
  • GC11M047080
  • GC11M047925
  • GC11M055794
  • GC11M056007
  • GC11M056154
  • GC11M050781
  • GC11M051576
  • GC11M052238
  • GC11M052898
  • GC11M053566
  • GC11M054232
  • GC11M054898
  • GC11M055596

Summaries for ARHGAP1 Gene

Entrez Gene Summary for ARHGAP1 Gene

  • This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]

GeneCards Summary for ARHGAP1 Gene

ARHGAP1 (Rho GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with ARHGAP1 include Noma and Lowe Oculocerebrorenal Syndrome. Among its related pathways are G-protein signaling_RhoA regulation pathway and Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and SH3/SH2 adaptor activity. An important paralog of this gene is PRR5-ARHGAP8.

UniProtKB/Swiss-Prot Summary for ARHGAP1 Gene

  • GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate.

Gene Wiki entry for ARHGAP1 Gene

Additional gene information for ARHGAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP1 Gene

Genomics for ARHGAP1 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP1 Gene

Promoters and enhancers for ARHGAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J046698 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 514.2 -0.1 -136 3.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 ARHGAP1 ZNF408 HSALNG0084009 ENSG00000270060 DDB2 ENSG00000244313 C1QTNF4 C11orf49 MAPK8IP1 ENSG00000256897
GH11J047175 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -477.1 -477075 4.7 HNRNPK ZNF217 EP300 CTCF SIN3A POLR2G SP1 NCOR1 GTF2E2 PHF8 ARFGAP2 MIR6745 lnc-PACSIN3-1 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 DDB2 ENSG00000244313 ZNF408
GH11J046236 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +462.3 462329 4.7 ZNF217 CTCF NRF1 BCLAF1 GTF2E2 PHF8 JUND PHB2 FOS ZFX ENSG00000254639 ENSG00000244313 DDB2 ENSG00000270060 AMBRA1 LINC02489 CREB3L1 ARHGAP1 ZNF408 LARGE2
GH11J047390 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -692.9 -692911 6.1 ZBTB40 NRF1 SP1 GTF2E2 EP300 POLR2A ZBTB11 RELA MYC PRPF4 SPI1 lnc-SLC39A13-1 C1QTNF4 FNBP4 NUP160 ENSG00000200090 ENSG00000244313 DDB2 ENSG00000270060 MYBPC3
GH11J047640 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -941.5 -941535 3.2 ZNF217 EP300 CTCF SIN3A NRF1 MYC USF1 POLR2G NCOR1 PHF8 MTCH2 lnc-AGBL2-2 C1QTNF4 NUP160 FNBP4 ENSG00000200090 DDB2 ENSG00000270060 ARHGAP1 PACSIN3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARHGAP1

Top Transcription factor binding sites by QIAGEN in the ARHGAP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ARHGAP1 Gene

Genomic Locations for ARHGAP1 Gene
chr11:46,677,075-46,700,665
(GRCh38/hg38)
Size:
23,591 bases
Orientation:
Minus strand
chr11:46,698,630-46,722,165
(GRCh37/hg19)
Size:
23,536 bases
Orientation:
Minus strand

Genomic View for ARHGAP1 Gene

Genes around ARHGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP1 Gene

Proteins for ARHGAP1 Gene

  • Protein details for ARHGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07960-RHG01_HUMAN
    Recommended name:
    Rho GTPase-activating protein 1
    Protein Accession:
    Q07960
    Secondary Accessions:
    • D3DQQ6

    Protein attributes for ARHGAP1 Gene

    Size:
    439 amino acids
    Molecular mass:
    50436 Da
    Quaternary structure:
    • Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with BNIPL.
    SequenceCaution:
    • Sequence=AAA16142.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGAP1 Gene

neXtProt entry for ARHGAP1 Gene

Post-translational modifications for ARHGAP1 Gene

  • Ubiquitination at Lys212
  • Modification sites at PhosphoSitePlus

Other Protein References for ARHGAP1 Gene

Antibody Products

  • Abcam antibodies for ARHGAP1
  • Biorbyt antibodies for ARHGAP1
  • Boster Bio Antibodies for ARHGAP1

No data available for DME Specific Peptides for ARHGAP1 Gene

Domains & Families for ARHGAP1 Gene

Gene Families for ARHGAP1 Gene

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

Protein Domains for ARHGAP1 Gene

Blocks:
  • RhoGAP domain
  • Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARHGAP1 Gene

GenScript: Design optimal peptide antigens:
  • p50-RhoGAP (RHG01_HUMAN)
genes like me logo Genes that share domains with ARHGAP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP1 Gene

Function for ARHGAP1 Gene

Molecular function for ARHGAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate.
GENATLAS Biochemistry:
Rho/CDC42 GTPase activating protein 1,ubiquitously expressed

Phenotypes From GWAS Catalog for ARHGAP1 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity TAS 8253717
GO:0005096 GTPase activator activity IDA 8253717
GO:0005515 protein binding IPI 9262406
GO:0017124 SH3 domain binding IEA --
GO:0017137 Rab GTPase binding IPI 16380373
genes like me logo Genes that share ontologies with ARHGAP1: view
genes like me logo Genes that share phenotypes with ARHGAP1: view

Animal Models for ARHGAP1 Gene

MGI Knock Outs for ARHGAP1:

Animal Model Products

CRISPR Products

miRNA for ARHGAP1 Gene

miRTarBase miRNAs that target ARHGAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP1 Gene

Localization for ARHGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP1 Gene

Cytoplasm.

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 ARHGAP1 gene
Compartment Confidence
cytosol 5
endosome 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARHGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 25468996
GO:0005829 cytosol TAS --
GO:0010008 endosome membrane IDA 16380373
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARHGAP1: view

Pathways & Interactions for ARHGAP1 Gene

PathCards logo

SuperPathways for ARHGAP1 Gene

SuperPathway Contained pathways
1 Actin Nucleation by ARP-WASP Complex
.41
.35
2 G12-G13 in Cellular Signaling
-
3 RhoGDI Pathway
.33
4 p75 NTR receptor-mediated signalling
5 Signaling by GPCR
genes like me logo Genes that share pathways with ARHGAP1: view

Pathways by source for ARHGAP1 Gene

2 BioSystems pathways for ARHGAP1 Gene
3 Reactome pathways for ARHGAP1 Gene
3 GeneGo (Thomson Reuters) pathways for ARHGAP1 Gene
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
  • G-protein signaling_RhoA regulation pathway
4 Qiagen pathways for ARHGAP1 Gene
  • CDC42 Pathway
  • G12-G13 in Cellular Signaling
  • RhoA Pathway
  • RhoGDI Pathway
1 GeneTex pathway for ARHGAP1 Gene

Gene Ontology (GO) - Biological Process for ARHGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IDA 8253717
GO:0007266 Rho protein signal transduction TAS 8253717
GO:0009967 positive regulation of signal transduction IEA --
GO:0016197 endosomal transport IMP 16380373
genes like me logo Genes that share ontologies with ARHGAP1: view

No data available for SIGNOR curated interactions for ARHGAP1 Gene

Drugs & Compounds for ARHGAP1 Gene

(4) Drugs for ARHGAP1 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
HJC 0350 Pharma 0

(3) Additional Compounds for ARHGAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ARHGAP1 Gene

Compound Action Cas Number
HJC 0350 885434-70-8
genes like me logo Genes that share compounds with ARHGAP1: view

Drug Products

Transcripts for ARHGAP1 Gene

mRNA/cDNA for ARHGAP1 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 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 ARHGAP1 Gene

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

ExUns: 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ARHGAP1 Gene

GeneLoc Exon Structure for
ARHGAP1

Expression for ARHGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARHGAP1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP1 Gene



Protein tissue co-expression partners for ARHGAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARHGAP1

SOURCE GeneReport for Unigene cluster for ARHGAP1 Gene:

Hs.138860

mRNA Expression by UniProt/SwissProt for ARHGAP1 Gene:

Q07960-RHG01_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ARHGAP1 Gene

  • Pancreas(4.5)
  • Blood(4.4)
  • Liver(4.4)
  • Spleen(4.3)
  • Nervous system(3.7)
  • Kidney(2.4)
  • Heart(2.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with ARHGAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP1 Gene

Orthologs for ARHGAP1 Gene

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

Orthologs for ARHGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP1 31 30
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP1 31 30
  • 91.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGAP1 31 30
  • 89.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgap1 17 31 30
  • 89.37 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP1 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgap1 30
  • 87.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP1 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP1 30
  • 76.46 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap1 30
  • 73.84 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap1 31 30
  • 63.78 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP68F 31 32 30
  • 54.31 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rga-1 31 30
  • 50.32 (n)
OneToMany
W02B12.8 32
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1565.02c 30
  • 40.04 (n)
Species where no ortholog for ARHGAP1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 ARHGAP1 Gene

ENSEMBL:
Gene Tree for ARHGAP1 (if available)
TreeFam:
Gene Tree for ARHGAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP1: view image

Paralogs for ARHGAP1 Gene

Paralogs for ARHGAP1 Gene

(14) SIMAP similar genes for ARHGAP1 Gene using alignment to 3 proteins:

  • RHG01_HUMAN
  • E9PNR6_HUMAN
  • H0YE29_HUMAN
genes like me logo Genes that share paralogs with ARHGAP1: view

Variants for ARHGAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARHGAP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
711378 Benign: not provided 46,680,520(-) G/A MISSENSE_VARIANT
721757 Likely Benign: not provided 46,679,391(-) G/A MISSENSE_VARIANT
722022 Likely Benign: not provided 46,695,684(-) G/A MISSENSE_VARIANT
726522 Benign: not provided 46,695,733(-) C/T SYNONYMOUS_VARIANT
733740 Benign: not provided 46,680,675(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ARHGAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP1 Gene

Variant ID Type Subtype PubMed ID
esv3626191 CNV gain 21293372
esv3626192 CNV loss 21293372

Variation tolerance for ARHGAP1 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP1 Gene

Disorders for ARHGAP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARHGAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
noma
  • cancrum oris
lowe oculocerebrorenal syndrome
  • ocrl
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
brain cancer
  • adult brain tumor
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP1 Gene

Publications for ARHGAP1 Gene

  1. Characterization of rhoGAP. A GTPase-activating protein for rho-related small GTPases. (PMID: 8288572) Lancaster CA … Hall A (The Journal of biological chemistry 1994) 2 3 4 23 54
  2. BNIPL-2, a novel homologue of BNIP-2, interacts with Bcl-2 and Cdc42GAP in apoptosis. (PMID: 12901880) Qin W … Gu J (Biochemical and biophysical research communications 2003) 3 4 23 54
  3. The structure of the GTPase-activating domain from p50rhoGAP. (PMID: 9009196) Barrett T … Eccleston JF (Nature 1997) 3 4 23 54
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 41 54
  5. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F … Genetic Factors for Osteoporosis (GEFOS) Consortium (Nature genetics 2009) 3 41 54

Products for ARHGAP1 Gene