Gene Gene information from NCBI Gene database.
Entrez ID 392
Gene name Rho GTPase activating protein 1
Gene symbol ARHGAP1
Synonyms (NCBI Gene)
CDC42GAPRHOGAPRHOGAP1p50rhoGAP
Chromosome 11
Chromosome location 11p11.2
Summary 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 b
miRNA miRNA information provided by mirtarbase database.
1467
miRTarBase ID miRNA Experiments Reference
MIRT020316 hsa-miR-130b-3p Sequencing 20371350
MIRT025280 hsa-miR-34a-5p Proteomics 21566225
MIRT025280 hsa-miR-34a-5p Proteomics 21566225
MIRT025280 hsa-miR-34a-5p Sequencing 20371350
MIRT025280 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IEA
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 8253717, 8288572
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS 8288572
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602732 673 ENSG00000175220
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q07960
Protein name Rho GTPase-activating protein 1 (CDC42 GTPase-activating protein) (GTPase-activating protein rhoGAP) (Rho-related small GTPase protein activator) (Rho-type GTPase-activating protein 1) (p50-RhoGAP)
Protein 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.
PDB 1AM4 , 1GRN , 1OW3 , 1RGP , 1TX4 , 2NGR , 5M6X , 5M70 , 6R3V , 7QSC , 7QTM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13716 CRAL_TRIO_2 82 216 Divergent CRAL/TRIO domain Domain
PF00620 RhoGAP 260 408 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 439
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Rho GTPase cycle
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 23200924
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14697242, 16024604
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 27216196, 37511111 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36676763 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24443565, 28000796, 35763041, 36168627 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30816546
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 28223826
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 28223826
★☆☆☆☆
Found in Text Mining only
Ewings sarcoma Ewing sarcoma BEFREE 28748534
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 23200924
★☆☆☆☆
Found in Text Mining only