LMNA

✍ dations ◷ 2025-10-06 11:30:08 #人类蛋白质,位于1号人类染色体的基因

1IFR, 1IVT, 1X8Y, 2XV5, 2YPT, 3GEF, 3V4Q, 3V4W, 3V5B

· nuclear envelope
· lamin filament
· nuclear lamina
· nucleoplasm
· cytoplasm
· cytosol
· intermediate filament

· mitotic prophase
· mitotic anaphase
· mitotic cell cycle
· apoptotic process
· cellular component disassembly involved in execution phase of apoptosis
· activation of signaling protein activity involved in unfolded protein response
· mitotic nuclear envelope disassembly
· mitotic nuclear envelope reassembly
· muscle organ development
· regulation of cell migration
· establishment or maintenance of microtubule cytoskeleton polarity
· endoplasmic reticulum unfolded protein response
· protein localization to nucleus
· sterol regulatory element binding protein import into nucleus
· regulation of apoptotic process
· cellular protein metabolic process
· ventricular cardiac muscle cell development
· cellular response to hypoxia

核纤层蛋白 A/C(英语:Lamin A/C)是由人类基因 编码的蛋白质,属于核纤层蛋白家族。

核纤层是真核生物细胞核中附于内核膜(英语:inner nuclear membrane)内侧的网络片层结构。其核纤层蛋白家族在进化中高度保守。在有丝分裂过程中,核纤层蛋白磷酸化,核纤层解聚(这一过程是可逆的)。Lamin蛋白质被认为与细胞核的稳定性、染色质的结构与基因的表达有关. Vertebrate lamins consist of two types, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms.

Early in mitosis, MPF phosphorylates specific serine residues in all three nuclear lamins, causing depolymerization of the lamin intermediate filaments. The phosphorylated lamin B dimers remain associated with the nuclear membrane via their isoprenyl anchor. Lamin A is targeted to the nuclear membrane by an isoprenyl group but it is cleaved shortly after arriving at the membrane. It stays associated with the membrane through protein-protein interactions of itself and other membrane associated proteins, such as LAP1. Depolymerization of the nuclear lamins leads to disintegration of the nuclear envelope. Transfection experiments demonstrate that phosphorylation of human lamin A is required for lamin depolymerization, and thus for disassembly of the nuclear envelope, which normally occurs early in mitosis.

Mutations in the gene are associated with several diseases, including Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, Restrictive dermopathy and Hutchinson-Gilford progeria syndrome. A truncated version of lamin A, commonly known as progerin, causes Hutchinson-Gilford progeria syndrome.

LMNA has been shown to interact with:

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