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APOA5 apolipoprotein A5 [ Homo sapiens (human) ]

Gene ID: 116519, updated on 8-Dec-2018

Summary

Official Symbol
APOA5provided by HGNC
Official Full Name
apolipoprotein A5provided by HGNC
Primary source
HGNC:HGNC:17288
See related
Ensembl:ENSG00000110243 MIM:606368
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAP3; APOAV
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]
Expression
Restricted expression toward liver (RPKM 62.5) See more
Orthologs

Genomic context

See APOA5 in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (116789370..116792420, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116660086..116663136, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BUD13 homolog Neighboring gene ZPR1 zinc finger Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region Neighboring gene apolipoprotein A4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial hypertriglyceridemia
MedGen: C0020480 OMIM: 145750 GeneReviews: Not available
Compare labs
Familial type 5 hyperlipoproteinemia
MedGen: C0020481 OMIM: 144650 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
NHGRI GWA Catalog
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
NHGRI GWA Catalog
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
NHGRI GWA Catalog
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association study identifies common variants associated with circulating vitamin E levels.
NHGRI GWA Catalog
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men.
NHGRI GWA Catalog
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
NHGRI GWA Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
    Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PPAR Alpha Pathway, organism-specific biosystem (from WikiPathways)
    PPAR Alpha Pathway, organism-specific biosystemPPAR alpha (also known as NR1C1) is a nuclear receptor that is involved with transcriptional regulation of genes involved in beta-oxidation, metabolism, fatty acid transport, etc.
  • PPAR signaling pathway, organism-specific biosystem (from KEGG)
    PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPAR signaling pathway, conserved biosystem (from KEGG)
    PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ97995, MGC126836, MGC126838

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IDA
Inferred from Direct Assay
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
lipase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipase binding IPI
Inferred from Physical Interaction
more info
PubMed 
lipid binding IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein lipase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
low-density lipoprotein particle receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acylglycerol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
acylglycerol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cholesterol esterification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of lipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of lipoprotein lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
positive regulation of triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of triglyceride catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of very-low-density lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
regulation of cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of intestinal cholesterol absorption IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
reverse cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tissue regeneration IEP
Inferred from Expression Pattern
more info
PubMed 
triglyceride catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
triglyceride metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
chylomicron IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chylomicron IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
NOT low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
apolipoprotein A-V
Names
apo-AV
apolipoprotein A-V precursor variant 3
regeneration-associated protein 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015894.1 RefSeqGene

    Range
    5001..8051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166598.1NP_001160070.1  apolipoprotein A-V precursor

    See identical proteins and their annotated locations for NP_001160070.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF202889, AP006216, DA641693
    Consensus CDS
    CCDS8376.2
    UniProtKB/Swiss-Prot
    Q6Q788
    UniProtKB/TrEMBL
    A0A0B4RUS7
    Conserved Domains (1) summary
    pfam01442
    Location:69247
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  2. NM_052968.4NP_443200.2  apolipoprotein A-V precursor

    See identical proteins and their annotated locations for NP_443200.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF202889, AP006216, BC101787, DA641693, DB184692
    Consensus CDS
    CCDS8376.2
    UniProtKB/Swiss-Prot
    Q6Q788
    UniProtKB/TrEMBL
    A0A0B4RUS7
    Related
    ENSP00000445002.1, ENST00000542499.5
    Conserved Domains (1) summary
    pfam01442
    Location:69247
    Apolipoprotein; Apolipoprotein A1/A4/E domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    116789370..116792420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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