RACGAP1
Rac GTPase Activating Protein 1
Gene Information Card
| Symbol | RACGAP1 |
|---|---|
| Full Name | Rac GTPase activating protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 29127 ncbi.nlm.nih.gov/gene/29127 |
| Ensembl ID | ENSG00000161800 |
| UniProt ID | Q9H0H5 |
| OMIM ID | 604980 |
| HGNC ID | 9804 |
| Aliases | HsCYK-4, CYK4, MgcRacGAP |
Description
RACGAP1 encodes a GTPase-activating protein (GAP) that specifically regulates Rac and Cdc42 small GTPases. The protein is essential for cytokinesis, localizing to the central spindle and midbody, and is involved in cell cycle progression, cell migration, and invasion. Overexpression is observed in multiple cancers and correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes proliferation and invasion via Rac1 inactivation | PMID: 25642768 |
| Colorectal cancer | Upregulation associated with metastasis and poor survival | PMID: 29057924 |
| Hepatocellular carcinoma | High expression linked to tumor grade and recurrence | PMID: 30131766 |
| Lung adenocarcinoma | RACGAP1 amplification drives cell cycle progression | PMID: 31270520 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.1 | Medium |
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.0 | Cervical cancer cell line |
| MCF7 | 25.4 | Breast cancer cell line |
| A549 | 22.1 | Lung cancer cell line |
| HepG2 | 18.7 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% (COSMIC) | Unknown functional impact |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • cytokinesis |
| • central spindle assembly | • cell division |
| • Rac GTPase binding |
Pathways
• Cytokinesis (Reactome R-HSA-2467813)
• Rho GTPase cycle (Reactome R-HSA-194840)
Protein Summary
RACGAP1 is a 632-amino acid protein containing a RhoGAP domain and a C1 domain. It acts as a GTPase-activating protein for Rac1 and Cdc42, promoting GTP hydrolysis. During mitosis, it localizes to the central spindle and midbody, where it is required for cytokinesis. The protein also interacts with ECT2 and KIF23 to form the centralspindlin complex.
Related Services
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|---|---|---|---|---|
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