ARHGAP1: Rho GTPase Activating Protein 1

A key regulator of Rho GTPase signaling involved in cytoskeletal dynamics and cell migration.

Gene Information Card

Symbol ARHGAP1
Full Name Rho GTPase Activating Protein 1
Gene Type protein-coding
Chromosomal Location 11p11.2
NCBI Gene ID 392 ncbi.nlm.nih.gov/gene/392
Ensembl ID ENSG00000175218
UniProt ID Q07960
OMIM ID 602732
HGNC ID 673
Aliases CDC42GAP, RHOGAP1, p50-RhoGAP, Cdc42GAP, RhoGAP1

Description

ARHGAP1 (Rho GTPase Activating Protein 1) encodes a member of the Rho GTPase-activating protein family. The protein stimulates the GTPase activity of Rho family members (e.g., RhoA, Rac1, Cdc42), converting them from active GTP-bound to inactive GDP-bound states. This regulates cytoskeletal reorganization, cell migration, and cell cycle progression. ARHGAP1 is widely expressed and plays a role in neuronal development, immune response, and cancer metastasis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Dysregulation of Rho GTPase signaling via altered ARHGAP1 expression or mutation promotes cell migration and invasion. COSMIC, ClinVar
Intellectual disability Rare variants in ARHGAP1 may disrupt neuronal Rho signaling, affecting synaptic function. ClinVar, OMIM
Immunodeficiency Impaired ARHGAP1 function can alter immune cell cytoskeletal dynamics, affecting chemotaxis. UniProt, NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 15.2 Medium
Lung 12.8 Medium
Liver 10.5 Medium
Kidney 9.3 Low
Heart 8.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 18.4 High expression
HEK293 14.7 Medium expression
A549 11.2 Medium expression
MCF7 9.8 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) Missense <0.01% Unknown functional impact; reported in COSMIC
c.457G>A (p.Glu153Lys) Missense <0.01% Potential loss of GAP activity; ClinVar
c.1234_1235insA Frameshift <0.01% Predicted loss of function; COSMIC
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations predicted to truncate the protein, impairing GAP activity and leading to sustained Rho GTPase signaling.

Gain of Function (GOF)

Not well characterized; some missense variants may alter substrate specificity or increase GAP activity.

Dominant Negative (DN)

Not reported for ARHGAP1.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/392
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ARHGAP1

Gene Ontology (GO)

• Rho GTPase activator activity (GO:0005096) • GTPase activator activity (GO:0005096)
• Rho protein signal transduction (GO:0007266) • regulation of cell shape (GO:0008360)
• actin cytoskeleton organization (GO:0030036) • cell migration (GO:0016477)

Pathways

• Rho GTPase cycle (Reactome: R-HSA-194840)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029485)

Protein Summary

ARHGAP1 encodes a 50 kDa protein (p50-RhoGAP) containing a RhoGAP domain that catalyzes GTP hydrolysis on Rho family GTPases. It localizes to the cytoplasm and membrane, and interacts with proteins such as Cdc42 and RhoA. The protein is involved in cytoskeletal remodeling, cell polarity, and vesicle trafficking. Dysregulation contributes to cancer progression and neurological disorders.

Related Services

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Related Products

Product name Cat.No. Species Gene ID
ARHGAP1 Knockout HEK293 Cell Line EDJ-KQ4085 Human 392 Details Get a Quote
ARHGAP19 Knockout HEK293 Cell Line EDJ-KQ10294 Human 84986 Details Get a Quote
ARHGAP11B Knockout HEK293 Cell Line EDJ-KQ10523 Human 89839 Details Get a Quote
ARHGAP18 Knockout HEK293 Cell Line EDJ-KQ11254 Human 93663 Details Get a Quote
ARHGAP12 Knockout HEK293 Cell Line EDJ-KQ11294 Human 94134 Details Get a Quote
ARHGAP10 Knockout HEK293 Cell Line EDJ-KQ11677 Human 79658 Details Get a Quote
ARHGAP15 Knockout HEK293 Cell Line EDJ-KQ12406 Human 55843 Details Get a Quote
ARHGAP17 Knockout HEK293 Cell Line EDJ-KQ12407 Human 55114 Details Get a Quote
ARHGAP11B Knockout A-549 Cell Line EDJ-KQ37939 Human 89839 Details Get a Quote
ARHGAP11B Knockout HCT 116 Cell Line EDJ-KQ37940 Human 89839 Details Get a Quote
ARHGAP11B Knockout HeLa Cell Line EDJ-KQ37941 Human 89839 Details Get a Quote
ARHGAP12 Knockout HCT 116 Cell Line EDJ-KQ38092 Human 94134 Details Get a Quote
ARHGAP10 Knockout A-549 Cell Line EDJ-KQ41298 Human 79658 Details Get a Quote
ARHGAP10 Knockout HCT 116 Cell Line EDJ-KQ41300 Human 79658 Details Get a Quote
ARHGAP10 Knockout HeLa Cell Line EDJ-KQ41301 Human 79658 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/392
OMIM https://www.omim.org/entry/602732
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:673
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175218
UniProt https://www.uniprot.org/uniprot/Q07960
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=ARHGAP1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ARHGAP1
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