ARF1 Gene: ADP-Ribosylation Factor 1
A small GTPase regulating vesicular trafficking and lipid metabolism
Gene Information Card
| Symbol | ARF1 |
|---|---|
| Full Name | ADP-Ribosylation Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 375 ncbi.nlm.nih.gov/gene/375 |
| Ensembl ID | ENSG00000143761 |
| UniProt ID | P84077 |
| OMIM ID | 103180 |
| HGNC ID | 652 |
| Aliases | ARF1_HUMAN, ADP-ribosylation factor 1 |
Description
ARF1 (ADP-Ribosylation Factor 1) is a member of the ARF family of small GTP-binding proteins. It functions as a key regulator of vesicular trafficking, particularly in the Golgi apparatus, and is involved in lipid metabolism, cytoskeletal organization, and cell signaling. ARF1 cycles between an active GTP-bound form and an inactive GDP-bound form, controlled by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ARF1 overexpression promotes tumor cell proliferation and invasion via PI3K/AKT signaling | COSMIC, PubMed |
| Pancreatic cancer | ARF1 mutations and altered expression linked to gemcitabine resistance | COSMIC, PubMed |
| Colorectal cancer | ARF1 upregulation correlates with poor prognosis and metastasis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | Medium |
| Liver | 18.7 | Medium |
| Kidney | 22.1 | Medium |
| Heart | 15.4 | Low |
| Lung | 20.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 30.2 | Cervical cancer cell line |
| HEK293 | 28.5 | Embryonic kidney cell line |
| MCF7 | 35.1 | Breast cancer cell line |
| A549 | 32.4 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Arg99His) | Missense | 0.02% | Altered GTP binding affinity |
| c.463C>T (p.Arg155Trp) | Missense | 0.01% | Potential loss of function |
| c.1A>G (p.Met1Val) | Start loss | 0.005% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg155Trp) may impair GTPase activity or membrane recruitment.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential gain-of-function effects.
Dominant Negative (DN)
Mutants with defective nucleotide binding (e.g., p.Arg99His) can act as dominant negatives by sequestering GEFs.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • vesicle-mediated transport | • Golgi organization |
| • intracellular protein transport | • lipid metabolic process |
Pathways
• ADP-ribosylation factor signaling
• Vesicular trafficking (COPI coat assembly)
• PI3K/AKT signaling (cancer)
Protein Summary
ARF1 is a 181-amino-acid small GTPase (UniProt P84077) that localizes primarily to the Golgi apparatus and plasma membrane. It regulates the recruitment of coat proteins (e.g., COPI) to membranes, facilitating vesicle budding and cargo transport. ARF1 also modulates phospholipid metabolism via activation of phospholipase D and phosphatidylinositol 4-kinase. Its activity is essential for maintaining Golgi structure and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARF1 Knockout HEK293 Cell Line | EDJ-KQ1054 | Human | 375 | Details Get a Quote |
| SCARF1 Knockout HEK293 Cell Line | EDJ-KQ6292 | Human | 8578 | Details Get a Quote |
| MARF1 Knockout HEK293 Cell Line | EDJ-KQ6683 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout A-549 Cell Line | EDJ-KQ31019 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout HCT 116 Cell Line | EDJ-KQ31020 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout HeLa Cell Line | EDJ-KQ31021 | Human | 9665 | Details Get a Quote |
| ARF1 Knockout A-549 Cell Line | EDJ-KQ21522 | Human | 375 | Details Get a Quote |
| ARF1 Knockout HCT 116 Cell Line | EDJ-KQ21524 | Human | 375 | Details Get a Quote |
| ARF1 Knockout HeLa Cell Line | EDJ-KQ21525 | Human | 375 | Details Get a Quote |
| SCARF1 Knockout HeLa Cell Line | EDJ-KQ54947 | Human | 8578 | Details Get a Quote |
| SCARF1 Knockout A-549 Cell Line | EDJ-KQ63432 | Human | 8578 | Details Get a Quote |
| SCARF1 Knockout HCT 116 Cell Line | EDJ-KQ71898 | Human | 8578 | Details Get a Quote |
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