ARF5 (ADP Ribosylation Factor 5)
Small GTPase involved in vesicular trafficking and lipid metabolism
Gene Information Card
| Symbol | ARF5 |
|---|---|
| Full Name | ADP Ribosylation Factor 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q31.3 |
| NCBI Gene ID | 381 ncbi.nlm.nih.gov/gene/381 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | P84085 |
| OMIM ID | 103188 |
| HGNC ID | 655 |
| Aliases | ARF5 |
Description
ARF5 (ADP Ribosylation Factor 5) is a member of the ARF family of small GTPases that regulate vesicular trafficking, lipid metabolism, and cytoskeletal dynamics. It functions as a molecular switch, cycling between GDP-bound inactive and GTP-bound active forms, and is involved in Golgi transport and endocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered ARF5 expression may affect vesicle trafficking and cell signaling, contributing to tumor progression. | COSMIC; literature |
| Developmental disorders | Rare variants in ARF5 have been reported in individuals with neurodevelopmental phenotypes. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| A549 | 9.8 | Lung cancer cells |
| K562 | 7.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; uncertain significance |
| c.214G>A (p.Val72Ile) | missense | <0.01% | Rare variant; functional impact unknown |
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)
| • GTP binding | • GTPase activity |
| • intracellular protein transport | • Golgi vesicle transport |
| • endocytosis | • lipid metabolic process |
Pathways
• ADP-Ribosylation Factor signaling
• Vesicle-mediated transport
• Golgi-to-ER retrograde transport
Protein Summary
ARF5 encodes a 180-amino acid small GTPase that localizes to the Golgi apparatus and endosomes. It regulates membrane trafficking by recruiting coat proteins and activating phospholipase D. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARF5 Knockout HEK293 Cell Line | EDJ-KQ2363 | Human | 381 | Details Get a Quote |
| ARF5 Knockout A-549 Cell Line | EDJ-KQ22805 | Human | 381 | Details Get a Quote |
| ARF5 Knockout HCT 116 Cell Line | EDJ-KQ22806 | Human | 381 | Details Get a Quote |
| ARF5 Knockout HeLa Cell Line | EDJ-KQ22807 | Human | 381 | Details Get a Quote |
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