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Beschreibung

Serine/arginine repetitive matrix protein 4 (UniProt: A7MD48, also known as Medulloblastoma antigen MU-MB-2.76, Neural-specific serine/arginine repetitive splicing factor of 100 kDa, Neural-specific SR-related protein of 100 kDa, nSR100) is encoded by the SRRM4 (also known as KIAA1853) gene (Gene ID: 84530) in human. nSR100 is a nuclear protein that is specifically expressed in neuronal cells. It serves as a splicing factor that is specifically required for neural cell differentiation. It acts in conjunction with nPTB/PTBP2 by binding directly to its regulated target transcripts and promote neural-specific exon inclusion in many genes that function in neural cell differentiation. It is shown to regulate the splicing of protrudin gene (Zfyve27) transcripts in neuronal cells and promotes splicing of protrudin pre-mRNA so as to include a microexon (exon L) encoding seven amino acids in a neuron-specific manner. The resulting protein known as Protrudin-L promotes neurite outgrowth during neurogenesis. Depletion of nSR100 in Neuro2A cells is shown to impair neurite outgrowth, whereas its ablation in mouse embryos is reported to prevent differentiation of neuronal progenitors in the cortex and impair development of the central and peripheral nervous systems. (Ref.: Ohnishi, T et al. (2017). Sci. Rep. 7: 41130, Quesnel-Vallie'res, M et al. (2015). Genes Dev. 29(7), 746-759).