ARHGEF1
Rho Guanine Nucleotide Exchange Factor 1
Gene Information Card
| Symbol | ARHGEF1 |
|---|---|
| Full Name | Rho Guanine Nucleotide Exchange Factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 9138 ncbi.nlm.nih.gov/gene/9138 |
| Ensembl ID | ENSG00000076916 |
| UniProt ID | Q92888 |
| OMIM ID | 601855 |
| HGNC ID | 681 |
| Aliases | GEF1, LBC, LSC, p115-RhoGEF, P115-RHOGEF, RhoGEF1 |
Description
ARHGEF1 encodes a guanine nucleotide exchange factor (GEF) that activates Rho GTPases by catalyzing the exchange of GDP for GTP. It is involved in cytoskeletal reorganization, cell adhesion, and migration. The protein contains a Dbl homology (DH) domain and a pleckstrin homology (PH) domain, and is regulated by G protein-coupled receptor signaling through interaction with Gα12/13 subunits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 62 | Loss-of-function mutations impair RhoA activation, leading to defective lymphocyte adhesion and migration | ClinVar: pathogenic variants in ARHGEF1 associated with combined immunodeficiency |
| B-cell acute lymphoblastic leukemia | Somatic mutations may alter GEF activity, contributing to leukemogenesis | COSMIC: recurrent missense mutations in hematologic malignancies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Bone marrow | 8.1 | Medium |
| Whole blood | 6.7 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HEK 293 | 7.8 | Moderate expression |
| HeLa | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Trp) | Missense | <0.01% | Loss of GEF activity; associated with immunodeficiency |
| c.1180G>A (p.Glu394Lys) | Missense | <0.01% | Reduced RhoA activation; reported in B-ALL |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the DH domain impair catalytic activity, leading to defective RhoA signaling and lymphocyte adhesion.
Gain of Function (GOF)
Not well documented; some somatic variants may enhance GEF activity in cancer.
Dominant Negative (DN)
Not established for ARHGEF1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RhoA signaling pathway (Reactome: R-HSA-194840)
• G alpha (12/13) signalling events (Reactome: R-HSA-416482)
• Regulation of actin dynamics for phagocytic cup formation (Reactome: R-HSA-2029482)
Protein Summary
ARHGEF1 (p115-RhoGEF) is a 912-amino acid protein that acts as a RhoA-specific guanine nucleotide exchange factor. It contains an N-terminal regulator of G protein signaling (RGS) domain that binds Gα12/13, linking GPCR signaling to RhoA activation. The protein is critical for lymphocyte trafficking, platelet aggregation, and vascular smooth muscle contraction. Mutations cause primary immunodeficiency and have been implicated in hematologic cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARHGEF18 Knockout HEK293 Cell Line | EDJ-KQ3725 | Human | 23370 | Details Get a Quote |
| ARHGEF1 Knockout HEK293 Cell Line | EDJ-KQ5805 | Human | 9138 | Details Get a Quote |
| ARHGEF10 Knockout HEK293 Cell Line | EDJ-KQ6671 | Human | 9639 | Details Get a Quote |
| ARHGEF11 Knockout HEK293 Cell Line | EDJ-KQ6765 | Human | 9826 | Details Get a Quote |
| ARHGEF17 Knockout HEK293 Cell Line | EDJ-KQ6767 | Human | 9828 | Details Get a Quote |
| ARHGEF15 Knockout HEK293 Cell Line | EDJ-KQ7726 | Human | 22899 | Details Get a Quote |
| ARHGEF12 Knockout HEK293 Cell Line | EDJ-KQ7993 | Human | 23365 | Details Get a Quote |
| ARHGEF16 Knockout HEK293 Cell Line | EDJ-KQ8721 | Human | 27237 | Details Get a Quote |
| ARHGEF19 Knockout HEK293 Cell Line | EDJ-KQ9156 | Human | 128272 | Details Get a Quote |
| ARHGEF10L Knockout HEK293 Cell Line | EDJ-KQ12414 | Human | 55160 | Details Get a Quote |
| ARHGEF10 Knockout A-549 Cell Line | EDJ-KQ30981 | Human | 9639 | Details Get a Quote |
| ARHGEF10 Knockout HCT 116 Cell Line | EDJ-KQ30982 | Human | 9639 | Details Get a Quote |
| ARHGEF10 Knockout HeLa Cell Line | EDJ-KQ30983 | Human | 9639 | Details Get a Quote |
| ARHGEF11 Knockout HCT 116 Cell Line | EDJ-KQ31205 | Human | 9826 | Details Get a Quote |
| ARHGEF11 Knockout HeLa Cell Line | EDJ-KQ31206 | Human | 9826 | Details Get a Quote |
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