载脂蛋白L1

载脂蛋白L1
已知的结构
PDB	人类UniProt搜索: PDBe RCSB
PDBID列表
	7L6K、7LF7、7LFA、7LFB、7LFD
识别号
别名	APOL1；, APO-L, APOL, APOL-I, FSGS4, apolipoprotein L1
外部ID	OMIM：607254, 603743 GeneCards：APOL1
相关疾病
	focal segmental glomerulosclerosis 4, susceptibility to、局部性肾丝球硬化症
基因位置（人类）
染色体	22号染色体
终止	36,267,530 bp
RNA表达模式
	查阅更多表达数据
基因本体
分子功能	• 血浆蛋白结合; • chloride channel activity; • lipid binding;
细胞组分	• 细胞外区域; • intrinsic component of membrane; • blood microparticle; • very-low-density lipoprotein particle; • high-density lipoprotein particle; • 细胞外空间; • endoplasmic reticulum lumen;
生物学过程	• lipoprotein metabolic process; • steroid metabolic process; • lipid transport; • 先天免疫系统; • cholesterol metabolic process; • 细胞溶解; • 受体介导的内吞作用; • killing of cells of other organism; • 脂质代谢; • 翻译后修饰; • chloride transmembrane transport; • transport;
	Sources:Amigo / QuickGO
直系同源
	8542
	无数据
	ENSG00000100342
	无数据
	O14791
	无数据
NM_001136540; NM_001136541; NM_003661; NM_145343; NM_145344;
	NM_001362927
	无数据
	NP_001130012; NP_001130013; NP_003652; NP_663318; NP_001349856
	无数据
	维基数据
查看/编辑人类

载脂蛋白L1（Apolipoprotein L1，常简写为ApoL1）是一系列被称为“载脂蛋白”的蛋白质中的一种。在人体中，它由位于22号染色体长臂的APOL1基因编码^[4]^[5]^[6]^[7]。截至到2020年2月9日，已经发现了三种APOL1基因的剪切变异体（splicing variant），分别对应了载脂蛋白L1的三种同源异构体（isoform）^[8]。

结构

载脂蛋白L1的1型同源异构体由398个氨基酸构成；2型同源异构体由414个氨基酸构成；3型同源异构体由380个氨基酸构成。三个异构体的序列大同小异，二级结构也大体相同。均主要包含以下结构域（从N端到C端，以下以1型同源异构体为例）^[9]^[10]：

1-27号氨基酸残基：信号肽（signal peptide）
60-237号残基：孔形成域（pore forming domain, PFD），其中包含一个9个氨基酸长度的BH3结构域（158-166号残基）
238-304号残基：膜地址域（membrane addressing domain, MAD）
339-398号残基：SRA相互作用域（SRA-interacting domain）

功能

参考文献

^ 與载脂蛋白L1相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000100342 - Ensembl, May 2017
^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O'Connor PM, Malloy MJ, Kane JP. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. The Journal of Biological Chemistry. October 1997, 272 (41): 25576–82. PMID 9325276. doi:10.1074/jbc.272.41.25576.
^ Page NM, Butlin DJ, Lomthaisong K, Lowry PJ. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Genomics. May 2001, 74 (1): 71–8. PMID 11374903. doi:10.1006/geno.2001.6534.
^ Pérez-Morga D, Vanhollebeke B, Paturiaux-Hanocq F, Nolan DP, Lins L, Homblé F, Vanhamme L, Tebabi P, Pays A, Poelvoorde P, Jacquet A, Brasseur R, Pays E. Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes. Science. July 2005, 309 (5733): 469–72. PMID 16020735. doi:10.1126/science.1114566.
^ Entrez Gene: APOL1 apolipoprotein L, 1.
^ UniProtKB - O14791 (APOL1_HUMAN). https://www.uniprot.org/. [2020-02-27]. （原始内容存档于2021-04-23）.
^ UniProtKB - O14791 (APOL1_HUMAN). UniProt. [2020-02-27]. （原始内容存档于2021-04-23）.
^ Xiqian Lan; Hongxiu Wen; Rivka Lederman; Ashwani Malhotra; Joanna Mikulak; Waldemar Popik; Karl Skorecki; Pravin C. Singhal. Protein domains of APOL1 and Its Risk Variants. Exp Mol Pathol. 2015 August, 99 (1): 139–144. PMID 26091559. doi:10.1016/j.yexmp.2015.06.003. 请检查|date=中的日期值 (帮助)

[1] 與载脂蛋白L1相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000100342 - Ensembl, May 2017

[3] Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9325276-4] Duchateau PN, Pullinger CR, Orellana RE, Kunitake ST, Naya-Vigne J, O'Connor PM, Malloy MJ, Kane JP. Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L. The Journal of Biological Chemistry. October 1997, 272 (41): 25576–82. PMID 9325276. doi:10.1074/jbc.272.41.25576.

[pmid11374903-5] Page NM, Butlin DJ, Lomthaisong K, Lowry PJ. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Genomics. May 2001, 74 (1): 71–8. PMID 11374903. doi:10.1006/geno.2001.6534.

[pmid16020735-6] Pérez-Morga D, Vanhollebeke B, Paturiaux-Hanocq F, Nolan DP, Lins L, Homblé F, Vanhamme L, Tebabi P, Pays A, Poelvoorde P, Jacquet A, Brasseur R, Pays E. Apolipoprotein L-I promotes trypanosome lysis by forming pores in lysosomal membranes. Science. July 2005, 309 (5733): 469–72. PMID 16020735. doi:10.1126/science.1114566.

[entrez-7] Entrez Gene: APOL1 apolipoprotein L, 1.

[8] UniProtKB - O14791 (APOL1_HUMAN). https://www.uniprot.org/. [2020-02-27]. （原始内容存档于2021-04-23）.

[9] UniProtKB - O14791 (APOL1_HUMAN). UniProt. [2020-02-27]. （原始内容存档于2021-04-23）.

[10] Xiqian Lan; Hongxiu Wen; Rivka Lederman; Ashwani Malhotra; Joanna Mikulak; Waldemar Popik; Karl Skorecki; Pravin C. Singhal. Protein domains of APOL1 and Its Risk Variants. Exp Mol Pathol. 2015 August, 99 (1): 139–144. PMID 26091559. doi:10.1016/j.yexmp.2015.06.003. 请检查|date=中的日期值 (帮助)

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载脂蛋白L1

结构

功能

相关疾病

参考文献