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APOA5 apolipoprotein A5 [ Homo sapiens (human) ]

Gene ID: 116519, updated on 13-May-2022

Summary

Official Symbol
APOA5provided by HGNC
Official Full Name
apolipoprotein A5provided by HGNC
Primary source
HGNC:HGNC:17288
See related
Ensembl:ENSG00000110243 MIM:606368; AllianceGenome:HGNC:17288
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
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Genomic context

See APOA5 in Genome Data Viewer
Location:
11q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116789367..116792420, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116803991..116807044, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116660083..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 uncharacterized LOC124902762 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial type 5 hyperlipoproteinemia
MedGen: C0020481 OMIM: 144650 GeneReviews: Not available
Compare labs
Hypertriglyceridemia, familial
MedGen: C5444012 OMIM: 145750 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

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

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_015894.2 RefSeqGene

    Range
    5542..8054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166598.2NP_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)
    AP006216
    Consensus CDS
    CCDS8376.2
    UniProtKB/Swiss-Prot
    Q6Q788
    UniProtKB/TrEMBL
    A0A0B4RUS7
    Related
    ENSP00000399701.2, ENST00000433069.2
    Conserved Domains (1) summary
    pfam01442
    Location:72262
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  2. NM_001371904.1NP_001358833.1  apolipoprotein A-V precursor

    Status: REVIEWED

    Source sequence(s)
    AP006216
    Related
    ENSP00000227665.4, ENST00000227665.9
    Conserved Domains (1) summary
    pfam01442
    Location:72262
    Apolipoprotein; Apolipoprotein A1/A4/E domain
  3. NM_052968.5NP_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:72262
    Apolipoprotein; Apolipoprotein A1/A4/E domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    116789367..116792420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    116803991..116807044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)