1. Gene
  2. ANGPTL3 - angiopoietin like 3 Gene

ANGPTL3 - angiopoietin like 3 Gene

中文名称:血管生成素 3

种属: Homo sapiens

同用名: ANL3; ANG-5; FHBL2; ANGPT5

基因 ID: 27329 | 基因类型: protein coding

关于 ANGPTL3

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:62,597,520-62,606,313 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues, 25 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 171.2).

功能概要

该基因编码在血管生成中起作用的分泌蛋白家族的成员。编码的蛋白质主要在肝脏中表达,进一步加工成包含 N 端卷曲螺旋结构域的链和 C 端纤维蛋白原链。 N 端链对脂质代谢很重要,而 C 端链可能参与血管生成。该基因的突变会导致 2 型家族性低β脂蛋白血症。[RefSeq 提供,2015 年 8 月]

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]

ANGPTL3 基因产物(1)

mRNA Protein Name
NM_014495.4 NP_055310.1 angiopoietin-related protein 3 preproprotein
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 growth factor activity IDA
IDA: 通过直接分析推断
11877390 GOA
enables integrin binding IPI
IPI: 通过物理相互作用推断
11877390 GOA
enables phospholipase inhibitor activity IDA
IDA: 通过直接分析推断
17110602 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in acylglycerol homeostasis IDA
IDA: 通过直接分析推断
17110602 GOA
involved in cell-matrix adhesion IPI
IPI: 通过物理相互作用推断
11877390 GOA
involved in cholesterol homeostasis IDA
IDA: 通过直接分析推断
17110602 GOA
involved in cholesterol metabolic process IDA
IDA: 通过直接分析推断
17110602 GOA
involved in fatty acid metabolic process IDA
IDA: 通过直接分析推断
12565906 GOA
involved in glycerol metabolic process IDA
IDA: 通过直接分析推断
12565906 GOA
involved in lipid homeostasis IDA
IDA: 通过直接分析推断
17110602 GOA
involved in lipid storage IDA
IDA: 通过直接分析推断
12565906 GOA
involved in negative regulation of lipoprotein lipase activity IDA
IDA: 通过直接分析推断
17110602 GOA
involved in negative regulation of phospholipase activity IDA
IDA: 通过直接分析推断
17110602 GOA
involved in phospholipid catabolic process IDA
IDA: 通过直接分析推断
17110602 GOA
involved in phospholipid homeostasis IDA
IDA: 通过直接分析推断
17110602 GOA
involved in phospholipid metabolic process IDA
IDA: 通过直接分析推断
17110602 GOA
involved in positive regulation of angiogenesis IDA
IDA: 通过直接分析推断
11877390 GOA
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
11877390 GOA
involved in positive regulation of lipid catabolic process IDA
IDA: 通过直接分析推断
12565906 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
11877390 GOA
acts upstream of or within triglyceride homeostasis IGI
IGI: 通过遗传相互作用推断
23150577 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
12565906 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
17110602 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

ANGPTL3 蛋白结构

Fibrinogen_C

Fibrinogen_C: Fibrinogen beta and gamma chains, C-terminal globular domain (243 - 453)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 460 a.a.
蛋白主名 其他名称

angiopoietin-related protein 3

angiopoietin 5

重组 ANGPTL3 蛋白

关联疾病

疾病名称 别名
Hypobetalipoproteinemia, Familial, 2

Familial Hypobetalipoproteinemia 2

FHBL2

Hypolipidemia, Familial, Combined

Combined Familial Hypolipidemia

Combined Hypobetalipoproteinemia Familial

Hypobetalipoproteinemia, Familial, Type 2

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia

Familial Hypobetalipoproteinemia 1

Familial Hypobetalipoproteinemia

FHBL1

Hypobetalipoproteinemia, Familial

Fhbl

Acanthocytosis With Hypobetalipoproteinemia

Hypobetalipoproteinemias

Hypobetalipoproteinemia, Normotriglyceridemic

Hypo-Beta-Lipoproteinemia

Hypobetalipoprotéinemia, Familial

Normotriglyceridemic Hypobetalipoproteinemia

Hypobetalipoproteinemia, Familial, Type 1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Atherosclerosis Susceptibility

Atherosclerosis

Atherosclerosis, Susceptibility To

ATHS

Atherogenic Lipoprotein Phenotype

Alp

Arteriosclerosis

Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

Hyperlipoproteinemia, Type I

Lipoprotein Lipase Deficiency

Familial Chylomicronemia Syndrome

Lpl Deficiency

Hyperchylomicronemia, Familial

Hyperlipemia, Idiopathic, Burger-Grutz Type

Hyperlipemia, Essential Familial

Lipase D Deficiency

Lipd Deficiency

Hyperlipoproteinemia, Type Ia

Chylomicronemia, Familial

High Density Lipoprotein Cholesterol Level Qtl 11

Hyperlipoproteinemia Type 1

Hyperlipoproteinemia 1

HLPP1

Lipoprotein Lipase

Hyperlipoproteinemia Type I

Familial Hyperchylomicronemia Syndrome

Hypolipoproteinemia

Hypolipoproteinaemia

Lipoprotein Deficiencies

Lipoprotein Disorder

Hypolipoproteinemias

Lipoprotein

Lipoprotein Deficiency

Hypolipidaemia

Lipoprotein Deficiency Disorder

High-Density Lipoid Deficiency

High-Density Lipoprotein Deficiency

Dyslipidaemia, Depressed Hdl Cholesterol

Hyperlipoproteinemia, Type Iv

Hyperlipoproteinemia Type Iv

Carbohydrate-Inducible Hyperlipemia

Endogenous Hyperlipidaemia

Familial Hypertriglyceridemia

Fredrickson Type Iv Hyperlipoproteinemia

Fredrickson Type Iv Lipidaemia

Fredrickson Type Iv Lipidemia

Vldl Hyperlipoproteinemia

Hyperlipoproteinemia Type 4

Carbohydrate Inducible Hyperlipemia

Familial Type Iv Hyperlipoproteinemia

Familial Hyperlipoproteinemia Type Iv

Familial Lipoprotein Lipase Deficiency

Familial Lpl Deficiency

Familial Hyperchylomicronemia

Hyperlipoproteinemia Type I

Familial Hyperlipoproteinemia Type I

Hyperchylomicronemia

Burger-Grutz Syndrome

Endogenous Hypertriglyceridaemia

Familial Fat-Induced Hypertriglyceridemia

Lipd Deficiency

Lpl Deficiency

Lipase D Deficiency

Lipoprotein Lipase Deficiency, Familial

Familial Chylomicronemia Syndrome

Fredrickson Type I Hyperlipoproteinemia

Fredrickson Type I Lipaemia

Hypercholesterinaemic Xanthomatosis

Mixed Hyperglyceridemia

Lipoprotein Lipase Deficiency

Type I Hyperlipoproteinemia

Hyperlipoproteinemia Type Ia

Familial Hyperlipo-Proteinemia Type 1

Familial Apolipoprotein C-Ii Deficiency

Familial Apoc-Ii Deficiency

Familial Apoc2 Deficiency

C-Ii Anapolipoproteinemia

Hyperlipoproteinemia, Type 1b

Hyperlipoproteinemia, Type Ib

Hyperlipoproteinemia Type I

Hyperlipoproteinemia, Type V

Hyperlipoproteinemia Type V

Hyperchylomicronemia, Late-Onset

Familial Type 5 Hyperlipoproteinemia

Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial

Hyperlipidemia, Type V

Hyperlipemia, Mixed

Hyperlipemia, Combined Fat And Carbohydrate-Induced

Familial Hyperlipoproteinemia Type V

Fredrickson Type V Lipaemia

Hyperlipoproteinemia Type 5

Hyperchylomicronemia Late Onset

Hyperlipemia Combined Fat And Carbohydrate-Induced

Hyperlipemia Mixed

Hyperlipidemia Type V

Mixed Hyperlipemia

Type V Hyperlipoproteinemia

Hyperlipoproteinemia 5

HLPP5

Hyperlipidemia, Familial Combined

Mixed Hyperlipidemia

Hypoalphalipoproteinemia, Primary, 1

Familial Hdl Deficiency

Fha

High Density Lipoprotein Deficiency

Familial Hypoalphalipoproteinemia

Hypoalphalipoproteinemia, Familial

Hdld

Fhd

Hdl Deficiency, Type 2

Primary Hypoalphalipoproteinemia 1

Hdl Cholesterol, Low Serum

Hdlc

Hdl Deficiency, Familial, 1

Hypoalphalipoproteinemia, Primary

Low Serum Hdl Cholesterol

Primary Hypoalphalipoproteinemia

FHA1

Hdld2

High Density Lipoprotein Deficiency 2

Hypoalphalipoproteinemias

Apolipoprotein A-I Deficiency

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia

Combined Hyperlipidemia, Familial

Mixed Hyperlipidaemia

FCHL3

Hyperlipidemia, Familial Combined

Familial Multiple Lipoprotein-Type Hyperlipidemia

Hyperbetalipoproteinemia With Prebetalipoproteinemia

Type Iib Hyperlipoproteinemia

Hyperlipidemia Familial Combined

Hyperlipoproteinemia Type Iib

Mixed Hyperlipemia

Hyperlipidaemia, Group C

Familial Hypercholesterolaemia With Hyperlipaemia

Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia

Hyperbetalipoproteinaemia With Prebetalipoproteinaemia

Hypercholesterolaemia With Endogenous Hyperglyceridaemia

Prebetalipoproteinemia Hyperbetalipoproteinaemia

Remnant Hyperlipoproteinemia

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ANGPTL3 VGNC VGNC:99843
Canis familiaris ANGPTL3 VGNC VGNC:37859
Felis catus ANGPTL3 VGNC VGNC:67571
Bos taurus ANGPTL3 VGNC VGNC:25892
Rattus norvegicus ANGPTL3 RGD RGD:1564505
Mus musculus ANGPTL3 MGD MGI:1353627
Macaca fascicularis ANGPTL3 NCBI NCBI:102136264
Others ANGPTL3 NCBI