AGAP5: ArfGAP with GTPase Domain, Ankyrin Repeat and PH Domain 5
A member of the AGAP family of GTPase-activating proteins involved in vesicle trafficking and signaling.
Gene Information Card
| Symbol | AGAP5 |
|---|---|
| Full Name | ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 729092 ncbi.nlm.nih.gov/gene/729092 |
| Ensembl ID | ENSG00000185304 |
| UniProt ID | Q5VU57 |
| OMIM ID | 611496 |
| HGNC ID | 31876 |
| Aliases | AGAP-5, CENTG3, FLJ90652, KIAA1099 |
Description
AGAP5 encodes a member of the AGAP family of GTPase-activating proteins (GAPs) that contain an N-terminal GTPase domain, a central ankyrin repeat region, and a C-terminal pleckstrin homology (PH) domain. The protein functions as a GAP for Arf and Rab family small GTPases, regulating vesicle trafficking, cytoskeletal dynamics, and cell signaling. AGAP5 is expressed in multiple tissues and may play a role in neuronal development and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No curated evidence in OMIM, ClinVar, or COSMIC as of 2025 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 6.2 | Low |
| Lung | 4.1 | Low |
| Kidney | 3.8 | Low |
| Liver | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 3.2 | Low expression |
| SH-SY5Y | 7.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated mutations in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GO:0005096 - GTPase activator activity | • GO:0005525 - GTP binding |
| • GO:0032313 - regulation of Rab GTPase activity | • GO:0006886 - intracellular protein transport |
| • GO:0016192 - vesicle-mediated transport |
Pathways
• Arf6 signaling pathway
• Rab regulation of trafficking
Protein Summary
AGAP5 is a multi-domain protein (GTPase, ankyrin repeats, PH domain) that acts as a GTPase-activating protein for Arf and Rab small GTPases. It localizes to the Golgi and endosomal membranes, modulating vesicle budding and trafficking. The protein is implicated in cytoskeletal organization and may influence cell migration and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGAP5 Knockout HEK293 Cell Line | EDJ-KQ12302 | Human | 729092 | Details Get a Quote |
| AGAP5 Knockout A-549 Cell Line | EDJ-KQ41122 | Human | 729092 | Details Get a Quote |
| AGAP5 Knockout HeLa Cell Line | EDJ-KQ41123 | Human | 729092 | Details Get a Quote |
| AGAP5 Knockout HCT 116 Cell Line | EDJ-KQ39875 | Human | 729092 | Details Get a Quote |
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