1. Gene
  2. APOA5 - apolipoprotein A5 Gene

APOA5 - apolipoprotein A5 Gene

中文名称:载脂蛋白 A5

种属: Homo sapiens

同用名: RAP3; APOAV

基因 ID: 116519 | 基因类型: protein coding

关于 APOA5

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:116,789,367-116,792,420 (from NCBI)

This gene has 4 transcripts (splice variants), 99 orthologues, 3 paralogues and is associated with 5 phenotypes. Restricted expression toward liver (RPKM 62.5).

功能概要

该基因编码的蛋白质是一种载脂蛋白,在调节血浆甘油三酯水平方面发挥着重要作用,而血浆甘油三酯水平是冠状动脉疾病的主要危险因素。它是高密度脂蛋白的组成部分,与大鼠蛋白高度相似,在肝损伤时上调。该基因的突变与高甘油三酯血症和 5 型高脂蛋白血症有关。该基因位于染色体 11q23 上载脂蛋白基因簇的近端。已经鉴定出编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

APOA5 基因产物(3)

mRNA Protein Name
NM_001166598.2 NP_001160070.1 apolipoprotein A-V precursor
NM_001371904.1 NP_001358833.1 apolipoprotein A-V precursor
NM_052968.5 NP_443200.2 apolipoprotein A-V 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 enzyme activator activity IDA
IDA: 通过直接分析推断
16806135 GOA
enables enzyme binding IDA
IDA: 通过直接分析推断
15178420 GOA
enables heparin binding IDA
IDA: 通过直接分析推断
15878877 GOA
enables lipase activator activity IMP
IMP: 通过突变表型推断
15178420 GOA
enables lipase binding IPI
IPI: 通过物理相互作用推断
15178420 GOA
enables lipid binding IDA
IDA: 通过直接分析推断
12810715 GOA
enables lipoprotein lipase activator activity IDA
IDA: 通过直接分析推断
18635818 GOA
enables lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
18635818 GOA
enables low-density lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
17326667 GOA
enables phosphatidylcholine binding IDA
IDA: 通过直接分析推断
16806135 GOA
enables phospholipid binding IDA
IDA: 通过直接分析推断
12810715 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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
11588264 GOA
involved in acylglycerol homeostasis IMP
IMP: 通过突变表型推断
15178420 GOA
involved in cholesterol homeostasis IDA
IDA: 通过直接分析推断
19121291 GOA
involved in lipid transport IDA
IDA: 通过直接分析推断
15178420 GOA
involved in positive regulation of fatty acid biosynthetic process IDA
IDA: 通过直接分析推断
18635818 GOA
involved in positive regulation of lipid catabolic process IDA
IDA: 通过直接分析推断
16806135 GOA
involved in positive regulation of lipoprotein lipase activity IDA
IDA: 通过直接分析推断
15178420 GOA
involved in positive regulation of triglyceride catabolic process IDA
IDA: 通过直接分析推断
18635818 GOA
involved in positive regulation of very-low-density lipoprotein particle remodeling IDA
IDA: 通过直接分析推断
18635818 GOA
involved in tissue regeneration IEP
IEP: 通过表达模式推断
11577099 GOA
involved in triglyceride catabolic process IMP
IMP: 通过突变表型推断
15178420 GOA
involved in triglyceride homeostasis IDA
IDA: 通过直接分析推断
19121291 GOA
involved in triglyceride homeostasis IMP
IMP: 通过突变表型推断
18635818 GOA
involved in triglyceride metabolic process IDA
IDA: 通过直接分析推断
11588264 GOA
involved in triglyceride metabolic process IMP
IMP: 通过突变表型推断
12417525 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of chylomicron IDA
IDA: 通过直接分析推断
15528295 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
11577099 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
18635818 GOA
part of high-density lipoprotein particle IDA
IDA: 通过直接分析推断
15528295 GOA
NOT part of low-density lipoprotein particle IDA
IDA: 通过直接分析推断
15528295 GOA
part of very-low-density lipoprotein particle IDA
IDA: 通过直接分析推断
15528295 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

APOA5 蛋白结构

Apolipoprotein

Apolipoprotein: Apolipoprotein A1/A4/E domain (59 - 308)

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

apolipoprotein A-V

apo-AV

APOA5 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra APOA5 Q6Q788 MORN4 Homo sapiens Q8NDC4
Validated Y2H
32296183
Intra APOA5 Q6Q788 CMTM6 Homo sapiens Q9NX76
Validated Y2H
32296183
Intra APOA5 Q6Q788 CMTM6 Homo sapiens Q9NX76
Y2H Prey Pooling
32296183
Intra APOA5 Q6Q788 CMTM6 Homo sapiens Q9NX76
Y2H Array
32296183
Intra APOA5 Q6Q788 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra APOA5 Q6Q788 YIF1A Homo sapiens O95070
Y2H Array
32296183
Intra APOA5 Q6Q788 YIF1A Homo sapiens O95070
Y2H Prey Pooling
32296183
Intra APOA5 Q6Q788 ACSF2 Homo sapiens Q96CM8
Validated Y2H
32296183
Intra APOA5 Q6Q788 SELENOS Homo sapiens Q9BQE4
Validated Y2H
32296183
Intra APOA5 Q6Q788 MYG1 Homo sapiens Q9HB07
Validated Y2H
32296183
Intra APOA5 Q6Q788 TMEM43 Homo sapiens Q9BTV4
Validated Y2H
32296183
Intra APOA5 Q6Q788 CMTM3 Homo sapiens Q96MX0
Validated Y2H
32296183
Intra APOA5 Q6Q788 TMEM19 Homo sapiens Q96HH6
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hypertriglyceridemia 1

Hypertriglyceridemia

Hypertriglyceridemia, Familial

Hypertriglyceridemia, Susceptibility To

HYTG1

FHTR

Hypertriglyceridemias Familial

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

Familial Apolipoprotein A5 Deficiency

Familial Apoa5 Deficiency

Familial Apolipoprotein A-V 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

Hyperlipoproteinemia, Type Iii

Hyperlipoproteinemia Type Iii

Broad-Betalipoproteinemia

Floating-Betalipoproteinemia

Familial Type 3 Hyperlipoproteinemia

Broad Beta Disease

Familial Hyperbeta- And Prebetalipoproteinemia

Familial Hypercholesterolemia With Hyperlipemia

Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis

Coronary Artery Disease, Severe, Susceptibility To

Coronary Artery Disease, Severe

Hyperlipidemia Type 3

Familial Dysbetalipoproteinemia

Hyperlipoproteinemia Type 3

Coronary Artery Disease

Apolipoprotein E, Deficiency Or Defect Of

Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D

Carbohydrate Induced Hyperlipemia

Familial Hypercholesterolaemia With Hyperlipaemia

Remnant Hyperlipidemia

Remnant Removal Disease

Dysbetalipoproteinemia

Broad-Beta Disease

Familial Dyslipidemia Type 3

Hlp Type 3

Remnant Hyperlipoproteinemia

Familial Hyperlipoproteinemia Type Iii

CAD

Hyperlipoproteinemia 3

HLPP3

Deficiency Or Defect Of Apolipoprotein E

Dysbetalipoproteinemia Due To Defect In Apolipoprotein E

Coronary Arteriosclerosis

Coronary Heart Disease

Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias

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

Pancreatitis

Mumps Pancreatitis

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

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

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

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

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

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

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Lipase Deficiency, Combined

Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency

Lpl And Htgl Deficiency

Lpl And Hl Deficiency

Familial Lipase Maturation Factor 1 Deficiency

Lipase Deficiency Combined

Combined Lipase Deficiency

Familial Lmf1 Deficiency

CLD

Apolipoprotein C-Iii Deficiency

Hyperalphalipoproteinemia 2

HALP2

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

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

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

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

Coronary Heart Disease 1

Coronary Heart Disease

Coronary Heart Disease, Susceptibility To, 1

Chds1

Coronary Heart Disease, Susceptibility To

CHD

Heart, Coronary, Disease, Susceptibility To, Type 1

Coronary Arteriosclerosis

Coronary Artery Disease

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

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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 APOA5 VGNC VGNC:107423
Bos taurus APOA5 VGNC VGNC:26025
Felis catus APOA5 VGNC VGNC:59853
Canis familiaris APOA5 VGNC VGNC:37993
Mus musculus APOA5 MGD MGI:1913363
Rattus norvegicus APOA5 RGD RGD:70903
Others APOA5 NCBI