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Description

Profilin-1 (UniProt: P62962, also known as Profilin I) is encoded by the Pfn1 gene (Gene ID: 18643) in murine species. Five profilin isoforms have been identified in mammals: Profilins I, IIa, IIb, III and IV. They regulate actin dynamics at plasma membranes during the assembly, maintain and disassemble actin networks at the leading edge of locomoting animal cells during cytokinesis, and are involved in embryonic development and morphogenesis. Profilins bind to G-actin in a 1:1 complex and thereby sequesters monomeric actin. Profilin I is highly expressed in all tissues. It binds to actin and affects the structure of the cytoskeleton. In neurons, proper profilin 1 function is essential during development and is implicated in the formation and maintenance of the neuronal cytoskeleton, growth-cone formation, synaptogenesis, synaptic activities, shape and morphological dynamics, and the growth of dendrites and axons. Knockdown of both profilins I and II is reported to inhibit neurite outgrowth, possibly impairing actin dynamics by reducing the availability of profilin-G-actin complexes for microfilament growth. Higher levels of profilin 1 have been reported in subjects with severe aplastic anemia. G118V and C71G mutations in profilin 1 have been linked to Amyotrophic lateral sclerosis (ALS). (Ref.: Yu, H., et al. (2021). Front. Immunol. 12, 631954, Kaiei, M., et al. (2018). Sci. Rep. 8, Article 13102, Murk, K., et al. (2012). PLoS One. 7(3), e34167, Jockusch, BM., et al. (2007). Rev. Physiol. Biochem. Pharmacol. 159, 131-149).