RAPGEF1
Rap guanine nucleotide exchange factor 1
Gene Information Card
| Symbol | RAPGEF1 |
|---|---|
| Full Name | Rap guanine nucleotide exchange factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 2889 ncbi.nlm.nih.gov/gene/2889 |
| Ensembl ID | ENSG00000107262 |
| UniProt ID | Q13905 |
| OMIM ID | 600303 |
| HGNC ID | 9852 |
| Aliases | C3G, GRF2 |
Description
RAPGEF1 (Rap guanine nucleotide exchange factor 1), also known as C3G, encodes a protein that activates Rap1 and Rap2 small GTPases by exchanging GDP for GTP. It plays a critical role in cell adhesion, migration, proliferation, and differentiation through integrin and growth factor signaling pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myelodysplastic syndrome | Somatic mutations in RAPGEF1 may disrupt hematopoietic differentiation | COSMIC, ClinVar |
| Acute myeloid leukemia | Recurrent mutations associated with altered Rap1 signaling | COSMIC, ClinVar |
| Colorectal cancer | Overexpression or mutation linked to tumor progression | COSMIC |
| Noonan syndrome-like disorder | Germline variants in RAPGEF1 reported in rare cases | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 10.2 | Medium |
| Kidney | 9.7 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium-high |
| K562 | 22.1 | High expression |
| HepG2 | 11.3 | Medium |
| A549 | 9.8 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly12Asp | Missense | 0.2% | Gain-of-function in Rap1 activation |
| p.Arg552Trp | Missense | 0.1% | Loss-of-function, reduced GEF activity |
| p.Glu108Lys | Missense | 0.05% | Unknown functional effect |
| c.1234_1235insA | Frameshift | 0.01% | Loss-of-function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain reduce or abolish Rap1 activation.
Gain of Function (GOF)
Missense mutations in the catalytic domain (e.g., p.Gly12Asp) enhance GEF activity and downstream signaling.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rap1 signaling pathway (KEGG: hsa04015)
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• Axon guidance (KEGG: hsa04360)
Protein Summary
RAPGEF1 (C3G) is a 1077-amino-acid protein containing an N-terminal SH3 domain, a central proline-rich region, and a C-terminal catalytic GEF domain. It specifically activates Rap1 and Rap2 GTPases, regulating cell adhesion, migration, and differentiation. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAPGEF1 Knockout HEK293 Cell Line | EDJ-KQ1303 | Human | 2889 | Details Get a Quote |
| RAPGEF1 Knockout A-549 Cell Line | EDJ-KQ20718 | Human | 2889 | Details Get a Quote |
| RAPGEF1 Knockout HCT 116 Cell Line | EDJ-KQ20719 | Human | 2889 | Details Get a Quote |
| RAPGEF1 Knockout HeLa Cell Line | EDJ-KQ20720 | Human | 2889 | Details Get a Quote |
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