RAP1A
RAP1A, member of RAS oncogene family
Gene Information Card
| Symbol | RAP1A |
|---|---|
| Full Name | RAP1A, member of RAS oncogene family |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 5906 ncbi.nlm.nih.gov/gene/5906 |
| Ensembl ID | ENSG00000116473 |
| UniProt ID | P62834 |
| OMIM ID | 179520 |
| HGNC ID | 9855 |
| Aliases | KREV1, SMGP21, G-22K |
Description
RAP1A is a small GTPase of the RAS superfamily that cycles between active GTP-bound and inactive GDP-bound states. It functions as a molecular switch regulating cell adhesion, proliferation, and differentiation. RAP1A is involved in integrin-mediated signaling, cell-cell junction formation, and modulation of MAPK and PI3K pathways. Mutations and altered expression of RAP1A are implicated in various cancers and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | RAP1A mutations or overexpression can activate proliferative and migratory pathways, contributing to tumorigenesis and metastasis. | COSMIC, ClinVar |
| Cardiovascular disease | RAP1A regulates endothelial cell adhesion and vascular permeability; dysregulation is linked to atherosclerosis and hypertension. | NCBI Gene, OMIM |
| Noonan syndrome-like disorder | Germline mutations in RAP1A may disrupt RAS-MAPK signaling, leading to developmental abnormalities. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 15.7 | Medium |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| A549 | 9.8 | Lung cancer cells |
| MCF7 | 7.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83G>A (p.Gly28Asp) | Missense | <1% | Alters GTP binding; potential gain-of-function |
| c.205C>T (p.Arg69Cys) | Missense | <1% | Impairs GTPase activity; loss-of-function |
| c.374A>G (p.Gln125Arg) | Missense | <1% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing GTP hydrolysis or nucleotide binding reduce RAP1A activity, affecting cell adhesion and signaling.
Gain of Function (GOF)
Mutations that stabilize the GTP-bound form enhance downstream signaling, promoting proliferation and migration.
Dominant Negative (DN)
Mutant RAP1A that sequesters guanine nucleotide exchange factors (GEFs) can inhibit wild-type RAP1A function.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • GDP binding | • protein binding |
| • signal transduction | • cell adhesion |
| • regulation of cell proliferation |
Pathways
• Rap1 signaling pathway
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Integrin signaling pathway
• cAMP signaling pathway
Protein Summary
RAP1A is a 21 kDa small GTPase that localizes to the plasma membrane and endomembranes. It acts as a binary switch, transducing signals from cell surface receptors to intracellular effectors. RAP1A regulates integrin activation, cadherin-mediated adhesion, and cytoskeletal dynamics. Its activity is controlled by GEFs (e.g., C3G, EPAC) and GAPs (e.g., SIPA1). Post-translational modifications include prenylation and palmitoylation, which are essential for membrane targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAP1A Knockout HCT 116 Cell Line | EDJ-KQ18058 | Human | 5906 | Details Get a Quote |
| RAP1A Knockout HEK293 Cell Line | EDJ-KQ50561 | Human | 5906 | Details Get a Quote |
| RAP1A Knockout HeLa Cell Line | EDJ-KQ54292 | Human | 5906 | Details Get a Quote |
| RAP1A Knockout A-549 Cell Line | EDJ-KQ62788 | Human | 5906 | Details Get a Quote |
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