ARFGAP3
ADP Ribosylation Factor GTPase Activating Protein 3
Gene Information Card
| Symbol | ARFGAP3 |
|---|---|
| Full Name | ADP Ribosylation Factor GTPase Activating Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 26286 ncbi.nlm.nih.gov/gene/26286 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9NP61 |
| OMIM ID | 612439 |
| HGNC ID | 16853 |
| Aliases | ARFGAP1, ARF1GAP, FLJ20089 |
Description
ARFGAP3 encodes a GTPase-activating protein (GAP) that stimulates the GTPase activity of ADP-ribosylation factor 1 (ARF1). This protein is involved in vesicle trafficking and Golgi function, regulating the hydrolysis of GTP bound to ARF1 to GDP, thereby controlling coat protein recruitment and membrane dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ARFGAP3 expression may affect vesicle trafficking and cell signaling, contributing to tumor progression. | COSMIC; literature reports |
| Neurodevelopmental disorders | Potential role in neuronal vesicle transport; limited direct evidence. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.2 | Medium |
| Brain | 6.5 | Low |
| Liver | 12.1 | Medium |
| Lung | 9.8 | Medium |
| Pancreas | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Embryonic kidney |
| HeLa | 8.9 | Cervical carcinoma |
| A549 | 7.6 | Lung carcinoma |
| MCF7 | 6.2 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Met) | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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 | • ARF GTPase activator activity |
| • Golgi membrane | • intracellular protein transport |
| • vesicle-mediated transport |
Pathways
• ADP-ribosylation factor (ARF) signaling
• Vesicle trafficking
• Golgi-to-ER retrograde transport
Protein Summary
ARFGAP3 is a 516-amino acid protein containing a zinc finger domain and a GAP domain. It localizes to the Golgi apparatus and acts as a GTPase activator for ARF1, regulating coat protein recruitment and vesicle budding. The protein is widely expressed and plays a role in membrane trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARFGAP3 Knockout HEK293 Cell Line | EDJ-KQ8505 | Human | 26286 | Details Get a Quote |
| ARFGAP3 Knockout A-549 Cell Line | EDJ-KQ34630 | Human | 26286 | Details Get a Quote |
| ARFGAP3 Knockout HCT 116 Cell Line | EDJ-KQ34631 | Human | 26286 | Details Get a Quote |
| ARFGAP3 Knockout HeLa Cell Line | EDJ-KQ34632 | Human | 26286 | Details Get a Quote |
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