LMNA

核纖層蛋白 A/C（英語：Lamin A/C）是由人類基因LMNA 編碼的蛋白質^[1][2]，屬於核纖層蛋白家族。

核纖層蛋白 A/C Lamin A/C
PDB rendering based on 1ifr.
有效結構 PDB 直系同源檢索：PDBe, RCSB PDB查詢代碼列表 1IFR, 1IVT, 1X8Y, 2XV5, 2YPT, 3GEF, 3V4Q, 3V4W, 3V5B
標識
代號	LMNA; CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1
擴展標識	遺傳學：150330 鼠基因：96794 同源基因：41321 ChEMBL: 1293235 GeneCards: LMNA Gene
基因本體論描述 分子功能 · structural molecule activity · protein binding 細胞成分 · nucleus · nuclear envelope · lamin filament · nuclear lamina · nucleoplasm · cytoplasm · cytosol · intermediate filament · perinuclear region of cytoplasm 生物過程 · M phase of mitotic cell cycle · 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 · positive regulation of cell aging Sources: Amigo / QuickGO
RNA表達模式
更多表達數據
直系同源體
物種	人類	小鼠
Entrez	4000	16905
Ensembl	ENSG00000160789	ENSMUSG00000028063
UniProt	P02545	P48678
mRNA序列	NM_001257374	NM_001002011
蛋白序列	NP_001244303	NP_001002011
基因位置	Chr 1: 156.05 – 156.11 Mb	Chr 3: 88.48 – 88.51 Mb
PubMed查詢	[1]	[2]
閱 論 編

功能

Biogenesis of lamin A in normal cells and the failure to generate mature lamin A in HGPS. In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In HGPS, a 50-amino acid deletion in prelamin A (amino acids 607–656) removes the site for the second endoproteolytic cleavage. Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. Coutinho et al. Immunity & Ageing 2009.^[3]

核纖層是真核生物細胞核中附於內核膜（英語：inner nuclear membrane）內側的網絡片層結構。其核纖層蛋白家族在進化中高度保守。在有絲分裂過程中，核纖層蛋白磷酸化，核纖層解聚（這一過程是可逆的）。Lamin蛋白質被認為與細胞核的穩定性、染色質的結構與基因的表達有關. 脊椎動物的核纖層蛋白包含A和B兩種形式。人類Lamin A/C基因透過選擇性剪接可以產生出三種A型異構體。^[4]

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.

臨床意義

Mutations in the LMNA 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.^[5][6]

與其他蛋白或基因的交互作用

LMNA has been shown to interact with:

• ALOX12^[7]
• EMD^{[8][9][10][11]}
• NARF^[12]
• SREBF1^[13]
• TMPO^[14][15]
• ZNF239^[16]
• SIRT1^[17]