RAP1GAP Gene - RAP1 GTPase Activating Protein
Key regulator of RAP1 signaling in cell adhesion, migration, and cancer
Gene Information Card
| Symbol | RAP1GAP |
|---|---|
| Full Name | RAP1 GTPase Activating Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 5909 ncbi.nlm.nih.gov/gene/5909 |
| Ensembl ID | ENSG00000176894 |
| UniProt ID | P47736 |
| OMIM ID | 600278 |
| HGNC ID | 9858 |
| Aliases | RAP1GAP1, RAP1GAP2, RAP1GAP3 |
Description
RAP1GAP encodes a GTPase-activating protein (GAP) that specifically inactivates RAP1 by stimulating its intrinsic GTPase activity, converting active RAP1-GTP to inactive RAP1-GDP. This protein plays a critical role in regulating cell adhesion, migration, and proliferation through modulation of integrin and cadherin signaling pathways. Loss of RAP1GAP function is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of RAP1GAP expression leads to sustained RAP1 activation, promoting cell migration and invasion | PMID: 21502514 |
| Pancreatic cancer | Epigenetic silencing of RAP1GAP correlates with poor prognosis and increased metastatic potential | PMID: 23034409 |
| Pituitary adenoma | RAP1GAP mutations identified in sporadic pituitary tumors, contributing to abnormal cell growth | PMID: 21804563 |
| Breast cancer | Reduced RAP1GAP expression associated with aggressive tumor phenotypes and shorter survival | PMID: 24154868 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| A549 | 5.2 | Low expression |
| MCF7 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35*) | Nonsense | <0.1% | Premature truncation, loss of GAP activity |
| c.487G>A (p.Gly163Arg) | Missense | <0.1% | Impaired catalytic activity |
| c.742_743del (p.Leu248fs) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in RAP1GAP are loss-of-function, leading to reduced GAP activity and sustained RAP1-GTP signaling.
Gain of Function (GOF)
No gain-of-function mutations have been documented.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • RAP1 GTPase binding |
| • Signal transduction | • Cell adhesion |
| • Negative regulation of cell migration |
Pathways
• RAP1 signaling pathway
• Integrin signaling pathway
• Cadherin signaling pathway
• cAMP signaling pathway
Protein Summary
RAP1GAP is a 663-amino acid protein that contains a conserved GAP domain responsible for catalyzing GTP hydrolysis on RAP1. It localizes to the cytoplasm and plasma membrane, where it negatively regulates RAP1-mediated signaling. The protein is widely expressed, with highest levels in brain and testis. Its dysregulation contributes to tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAP1GAP Knockout HEK293 Cell Line | EDJ-KQ1319 | Human | 5909 | Details Get a Quote |
| RAP1GAP2 Knockout HEK293 Cell Line | EDJ-KQ7832 | Human | 23108 | Details Get a Quote |
| RAP1GAP Knockout A-549 Cell Line | EDJ-KQ20752 | Human | 5909 | Details Get a Quote |
| RAP1GAP Knockout HCT 116 Cell Line | EDJ-KQ20753 | Human | 5909 | Details Get a Quote |
| RAP1GAP Knockout HeLa Cell Line | EDJ-KQ20754 | Human | 5909 | Details Get a Quote |
| RAP1GAP2 Knockout A-549 Cell Line | EDJ-KQ33372 | Human | 23108 | Details Get a Quote |
| RAP1GAP2 Knockout HCT 116 Cell Line | EDJ-KQ33373 | Human | 23108 | Details Get a Quote |
| RAP1GAP2 Knockout HeLa Cell Line | EDJ-KQ33374 | Human | 23108 | Details Get a Quote |
