NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

中文名称：NPC1 样细胞内胆固醇转运蛋白 1

种属: Homo sapiens

同用名: LDLCQ7; NPC11L1; SLC65A2

基因 ID: 29881 | 基因类型: protein coding

关于 NPC1L1

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,512,535-44,541,330 (from NCBI)

This gene has 4 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 24.2), small intestine (RPKM 22.9) and 2 other tissues.

功能概要

该基因编码的蛋白质是一种多通道膜蛋白。它包含一个保守的 N 末端 Niemann-Pick C1 (NPC1) 结构域和一个推定的甾醇感应结构域 (SSD) ，其中包括一个 YQRL 基序，该基序充当其他蛋白质中跨高尔基体网络传输信号的质膜。这种蛋白质通过囊泡内吞作用将游离胆固醇吸收到细胞中，并在肠道胆固醇的吸收中起关键作用。它还具有运输α-生育酚 (维生素 E) 的能力。药物依折麦布靶向这种蛋白质并抑制肠道胆固醇和α-生育酚的吸收。此外，这种蛋白质可能在调节脂质代谢中发挥关键作用。该基因的多态性变异与血浆总胆固醇和低密度脂蛋白胆固醇 (LDL-C) 水平以及冠心病 (CHD) 风险相关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2009 年 10 月]

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free Cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal Cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal Cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total Cholesterol and low-density lipoprotein Cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NPC1L1 基因产物(3)

mRNA	Protein	Name
NM_001101648.2	NP_001095118.1	NPC1-like intracellular cholesterol transporter 1 isoform 2 precursor
NM_001300967.2	NP_001287896.1	NPC1-like intracellular cholesterol transporter 1 isoform 3 precursor
NM_013389.3	NP_037521.2	NPC1-like intracellular cholesterol transporter 1 isoform 1 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cholesterol binding	IDA IDA: 通过直接分析推断	21602275	GOA
enables myosin V binding	IPI IPI: 通过物理相互作用推断	19542231	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19542231	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	34407950	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	19542231	GOA
enables vitamin E binding	IDA IDA: 通过直接分析推断	28315682	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to sterol depletion	IDA IDA: 通过直接分析推断	19325169	GOA
involved in cholesterol biosynthetic process	IMP IMP: 通过突变表型推断	17140581	GOA
involved in cholesterol transport	IMP IMP: 通过突变表型推断	17140581	GOA
involved in intestinal cholesterol absorption	IMP IMP: 通过突变表型推断	17140581	GOA
involved in lipoprotein metabolic process	IMP IMP: 通过突变表型推断	17140581	GOA
involved in vitamin E metabolic process	IDA IDA: 通过直接分析推断	28315682	GOA
involved in vitamin transport	IDA IDA: 通过直接分析推断	18403720	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	19325169	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NPC1L1 蛋白结构

Sterol-sensing

Patched

0
300
600
900
1200
1359 a.a.

蛋白主名

其他名称

NPC1-like intracellular cholesterol transporter 1

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

关联疾病

疾病名称

别名

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7

LDLCQ7	Low Density Lipoprotein Cholesterol Level Qtl 7
Ezetimibe, Nonresponse To

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Cholesterol Ester Storage Disease

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive	Arh
FHCL4	Autosomal Recessive Hypercholesterolemia
Arh1	Arh2
Autosomal Recessive Hypercholesterolemia 1	Autosomal Recessive Hypercholesterolemia 2
Fhcb1	Fhcb2
Hypercholesterolemia, Autosomal Recessive, 1, Formerly	Arh1, Formerly
Fhcb1, Formerly	Hypercholesterolemia, Autosomal Recessive, 2, Formerly
Arh2, Formerly	Fhcb2, Formerly
Familial Autosomal Recessive Hypercholesterolemia	Hypercholesterolemia, Familial, Autosomal Recessive
Hypercholesterolemia, Familial, Type 4

Platelet Glycoprotein Iv Deficiency

Platelet-Type Bleeding Disorder 10	Bdplt10
Cd36 Deficiency	Bleeding Disorder, Platelet-Type, 10
PG4D	Bleeding Disorder Platelet-Type 10
Deficiency, Platelet Glycoprotein Iv

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

Diabetes Mellitus

Diabetes

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

目录号	产品名	作用方式	纯度	是否罕见病
HY-17376	Ezetimibe		99.72%	是

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-133114	Ezetimibe ketone	Activator	99.97%	否
HY-17640	Nicodicosapent	Inhibitor	99.79%	否
HY-17376S	Ezetimibe-d4		98.14%	否
HY-17376S1	Ezetimibe-d4-1		99.26%	否
HY-17376R	Ezetimibe (Standard)		99.90%	否
HY-135388	ent-Ezetimibe		/	否
HY-136059	Desfluoro-ezetimibe	Activator	/	否
HY-160882	EBOV-IN-7		/	否
HY-RS09475	NPC1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-121315	BRD4097	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NPC1L1	RGD	RGD:1303135
Mus musculus	NPC1L1	MGD	MGI:2685089
Bos taurus	NPC1L1	VGNC	VGNC:32195
Felis catus	NPC1L1	VGNC	VGNC:68529
Canis familiaris	NPC1L1	VGNC	VGNC:110520
Macaca mulatta	NPC1L1	VGNC	VGNC:75381

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

关于 NPC1L1

功能概要

NPC1L1 基因产物(3)

NPC1L1 蛋白结构

关联疾病

直系同源

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NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

关于 NPC1L1

功能概要

NPC1L1 基因产物(3)

NPC1L1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

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Q

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