ARFGAP1
ADP Ribosylation Factor GTPase Activating Protein 1
Gene Information Card
| Symbol | ARFGAP1 |
|---|---|
| Full Name | ADP Ribosylation Factor GTPase Activating Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 55738 ncbi.nlm.nih.gov/gene/55738 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 608417 |
| HGNC ID | 15853 |
| Aliases | ARF1GAP, ARFGAP-1, FLJ10769 |
Description
ARFGAP1 encodes a GTPase-activating protein (GAP) that stimulates the GTPase activity of ADP-ribosylation factor 1 (ARF1), thereby regulating vesicle trafficking and membrane dynamics in the Golgi apparatus. The protein is involved in the disassembly of COPI-coated vesicles and plays a role in lipid droplet formation and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered ARFGAP1 expression may disrupt vesicle trafficking and signaling pathways, contributing to tumor progression. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodegenerative disorders | Potential involvement in protein trafficking defects; limited direct evidence. | ClinVar and literature suggest possible links, but no confirmed disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 10.2 | Low |
| Brain | 8.5 | Low |
| Liver | 12.1 | Medium |
| Lung | 9.8 | Low |
| Pancreas | 11.5 | Medium |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK 293 | 13.8 | Embryonic kidney cells |
| A549 | 11.9 | Lung carcinoma cells |
| MCF7 | 12.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | 0.02% | Unknown functional impact |
| c.205G>A (p.Glu69Lys) | missense | 0.01% | Reported in COSMIC; potential loss of function |
| c.457_459del (p.Lys153del) | inframe deletion | <0.01% | Rare; effect not characterized |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the GAP domain may reduce catalytic activity, impairing ARF1 inactivation and vesicle trafficking.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • ARF GTPase activator activity |
| • Golgi apparatus | • COPI vesicle coat |
| • intracellular protein transport | • vesicle-mediated transport |
Pathways
• ADP-ribosylation factor signaling
• COPI-dependent Golgi-to-ER retrograde transport
• Vesicle trafficking
Protein Summary
ARFGAP1 is a 415-amino-acid protein containing a zinc finger domain and a GAP domain. It localizes to the Golgi apparatus and acts as a GTPase-activating protein for ARF1, promoting the hydrolysis of GTP to GDP. This activity is essential for the uncoating of COPI vesicles and the regulation of membrane traffic. The protein also interacts with phospholipids and other trafficking factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARFGAP1 Knockout HEK293 Cell Line | EDJ-KQ12403 | Human | 55738 | Details Get a Quote |
| ARFGAP1 Knockout A-549 Cell Line | EDJ-KQ41293 | Human | 55738 | Details Get a Quote |
| ARFGAP1 Knockout HCT 116 Cell Line | EDJ-KQ41294 | Human | 55738 | Details Get a Quote |
| ARFGAP1 Knockout HeLa Cell Line | EDJ-KQ41295 | Human | 55738 | Details Get a Quote |
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