1. Gene
  2. APOA5 - apolipoprotein A5 Gene

APOA5 - apolipoprotein A5 Gene

Homo sapiens

Also known as RAP3; APOAV

Gene ID: 116519 | Gene type: protein coding

About 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).

Summary

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 Products(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

APOA5 Protein Structure

Apolipoprotein

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

  • 0
  • 100
  • 200
  • 300
  • 366 a.a.
Protein Preferred Names Protein Names

apolipoprotein A-V

apo-AV

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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