ARF1 Antibody

The ARFs are grouped into three classes based on amino acid sequence homology:

• Class I: ARF1 and ARF3 (96% identity to each other)
• Class II: ARF4 and ARF5 (90% identity to each other, and 82% identity to ARF1)
• Class III: ARF6 (68% identity to ARF1) .

ARF1 is involved in various cellular processes, including:

• Membrane Traffic Regulation: ARF1 regulates the formation of vesicles that transport proteins and lipids between different cellular compartments .
• Recruitment of Coat Proteins: It recruits coat proteins such as coat protein complex I (COPI), adaptor protein complex 1 (AP-1), and GGA3, which are essential for vesicle formation and cargo selection .
• Lipid Modification: ARF1 also recruits lipid-modifying enzymes that alter the lipid composition of membranes, facilitating vesicle budding and fusion .

In mice, the gene encoding ARF1 is located on chromosome 11 (Chr11:59102237-59119042 bp, - strand) . Homozygous embryos with mutations in the Arf1 gene die in utero shortly after implantation . The gene is associated with various phenotypes, including abnormalities in the cardiovascular system, nervous system, and immune system .

ARF1 has been studied in the context of neurodevelopmental disorders. For instance, a de novo missense variant in the ARF1 gene (c.296 G>A; p.R99H) has been associated with developmental delay, hypotonia, intellectual disability, and motor stereotypies . Functional analysis of this variant revealed that it causes swelling of the Golgi apparatus and alters the morphology of recycling endosomes .