ARF6: ADP Ribosylation Factor 6
A small GTPase regulating membrane trafficking and cytoskeletal dynamics
Gene Information Card
| Symbol | ARF6 |
|---|---|
| Full Name | ADP Ribosylation Factor 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 382 ncbi.nlm.nih.gov/gene/382 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | P62330 |
| OMIM ID | 600464 |
| HGNC ID | 659 |
| Aliases | ADP-ribosylation factor 6, ARF6 |
Description
ARF6 (ADP Ribosylation Factor 6) is a member of the ARF family of small GTP-binding proteins. It functions as a key regulator of membrane trafficking, endocytosis, and actin cytoskeleton remodeling. ARF6 cycles between an active GTP-bound form and an inactive GDP-bound form, controlling vesicle formation, cell adhesion, and cell migration. Its dysregulation is implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | ARF6 overexpression or hyperactivation promotes tumor cell invasion and metastasis by enhancing membrane ruffling and focal adhesion turnover. | COSMIC; multiple studies in NCBI PubMed |
| Intellectual Disability (ARF6-related) | De novo missense mutations in ARF6 impair GTPase activity, leading to altered neuronal development. | ClinVar; OMIM #600464 |
| Immunodeficiency | ARF6 mutations disrupt immune cell trafficking and phagocytosis. | ClinVar; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| A549 | 11.5 | Lung carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 13.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.463G>A (p.Gly155Arg) | Missense | Rare | Gain-of-function; increased GTP binding |
| c.374A>G (p.Asn125Ser) | Missense | Rare | Loss-of-function; impaired nucleotide exchange |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss-of-function; no protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair GTP binding or hydrolysis (e.g., p.Asn125Ser) reduce ARF6 activity, affecting endocytosis and cell migration.
Gain of Function (GOF)
Mutations that stabilize GTP-bound state (e.g., p.Gly155Arg) enhance ARF6 activity, promoting cancer cell invasion.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported in ARF6.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • endocytosis |
| • actin cytoskeleton organization | • cell adhesion |
| • cell migration |
Pathways
• ARF6 trafficking pathway
• Endocytosis
• Actin cytoskeleton regulation
• Focal adhesion signaling
Protein Summary
ARF6 is a 175-amino-acid small GTPase (UniProt P62330) that localizes to the plasma membrane and endosomes. It cycles between GDP-bound (inactive) and GTP-bound (active) states, regulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Active ARF6 recruits effectors such as JIP4 and ARNO to mediate membrane remodeling, endosomal recycling, and actin polymerization. Its role in cell motility makes it a target in cancer metastasis research.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARF6 Knockout HEK293 Cell Line | EDJ-KQ50129 | Human | 382 | Details Get a Quote |
| ARF6 Knockout HeLa Cell Line | EDJ-KQ52652 | Human | 382 | Details Get a Quote |
| ARF6 Knockout A-549 Cell Line | EDJ-KQ61126 | Human | 382 | Details Get a Quote |
| ARF6 Knockout HCT 116 Cell Line | EDJ-KQ69613 | Human | 382 | Details Get a Quote |
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