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MYRF Q9Y2G1

髓鞘调节因子 (EC 3.4.-.-) (髓鞘基因调节因子) [切割为:髓鞘调节因子,N端;髓鞘调节因子,C端]

蛋白质信息 (UniProt)

髓鞘调节因子 (EC 3.4.-.-) (髓鞘基因调节因子) [切割为:髓鞘调节因子,N端;髓鞘调节因子,C端]

Q9Y2G1

功能描述

[Myelin regulatory factor]: 构成转录因子前体。介导自催化切割,释放Myelin regulatory factor,N-terminal组分,该组分特异性激活中枢神经系统(CNS)髓鞘基因的转录(PubMed:23966832)。 {ECO:0000269|PubMed:23966832}.; FUNCTION: [Myelin regulatory factor, C-terminal]: 膜结合部分,无转录因子活性,切割后仍附着在内质网膜上。 {ECO:0000269|PubMed:23966832}.; FUNCTION: [Myelin regulatory factor, N-terminal]: 转录因子,在少突胶质细胞(OL)成熟过程中特异性激活髓鞘基因(如MBP、MOG、MAG、DUSP15和PLP1)的表达,从而在少突胶质细胞成熟和中枢神经系统髓鞘化中发挥核心作用。特异性识别并结合髓鞘特异性基因调控区的DNA序列5'-CTGGYAC-3',直接激活其表达。不仅在少突胶质细胞分化期间被需要,而且对于维持髓鞘基因的表达以及维持成熟、有活力的少突胶质细胞表型也是持续需要的(PubMed:23966832)。 {ECO:0000269|PubMed:23966832}.

组织特异性

Expressed in lung, brainstem, uterus and, to a lesser extent, in basal ganglion and liver. Weakly expressed in cerebellum (PubMed:10828591). High expression detected in the retinal pigment epithelium, choroid, and optic nerve (PubMed:31048900).

亚细胞定位

[Myelin regulatory factor]: Endoplasmic reticulum membrane

关键词

3D-structure Acetylation Activator Alternative splicing Autocatalytic cleavage Coiled coil Cytoplasm Differentiation Disease variant DNA-binding