APOA5 apolipoprotein A5 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (116789367..116792420, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (116803991..116807044, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (116660083..116663136, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Apo gene's genetic variants: hidden role in Asian vascular risk.
Title: The Apo gene's genetic variants: hidden role in Asian vascular risk.
Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.
Title: Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.
ApoA5 lowers triglyceride levels via suppression of ANGPTL3/8-mediated LPL inhibition.
Title: ApoA5 lowers triglyceride levels via suppression of ANGPTL3/8-mediated LPL inhibition.
Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
Title: Genetic variation in apolipoprotein A-V in hypertriglyceridemia.
The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.
Title: The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.
Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.
Title: Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants.
Association of S19W polymorphism in APOA5 gene and serum lipid levels in patients with type 2 diabetic nephropathy.
Title: Association of S19W polymorphism in APOA5 gene and serum lipid levels in patients with type 2 diabetic nephropathy.
Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China.
Title: Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China.
Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.
Title: Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.
Apolipoprotein A5 gene polymorphism (rs662799) and cardiovascular disease in end-stage kidney disease patients.
Title: Apolipoprotein A5 gene polymorphism (rs662799) and cardiovascular disease in end-stage kidney disease patients.

Submit: New GeneRIF Correction See all GeneRIFs (361)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial type 5 hyperlipoproteinemia MedGen: C0020481 OMIM: 144650 GeneReviews: Not available	Compare labs
Hypertriglyceridemia 1 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 EBI GWAS CatalogPubMed
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies common variants associated with circulating vitamin E levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485634

ECD02845 (e-PCR)
- UniSTS:283938

NoName (e-PCR)
- UniSTS:480554

REN73090 (e-PCR)
- UniSTS:397890

REN73091 (e-PCR)
- UniSTS:397891

REN73092 (e-PCR)
- UniSTS:397892

REN73093 (e-PCR)
- UniSTS:397893

REN73094 (e-PCR)
- UniSTS:397894

REN73095 (e-PCR)
- UniSTS:397895

REN73096 (e-PCR)
- UniSTS:397896

REN73097 (e-PCR)
- UniSTS:397897

REN73098 (e-PCR)
- UniSTS:397898

REN73099 (e-PCR)
- UniSTS:397899

ECD06759 (e-PCR)
- UniSTS:287819

REN73100 (e-PCR)
- UniSTS:397900

REN73101 (e-PCR)
- UniSTS:397901

REN73102 (e-PCR)
- UniSTS:397902

REN73103 (e-PCR)
- UniSTS:397903

REN73104 (e-PCR)
- UniSTS:397904

REN73105 (e-PCR)
- UniSTS:397905

REN73106 (e-PCR)
- UniSTS:397906

REN73107 (e-PCR)
- UniSTS:397907

REN73108 (e-PCR)
- UniSTS:397908

REN73109 (e-PCR)
- UniSTS:397909

REN73110 (e-PCR)
- UniSTS:397910

REN73111 (e-PCR)
- UniSTS:397911

stSG601776 (e-PCR)
- UniSTS:444540

ECD03778 (e-PCR)
- UniSTS:284858

ECD03275 (e-PCR)
- UniSTS:284360

ECD03802 (e-PCR)
- UniSTS:284882

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
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	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine-sterol O-acyltransferase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
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 efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in phospholipid efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of fatty acid biosynthetic process	IDA Inferred from Direct Assay 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	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	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 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	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 triglyceride-rich lipoprotein particle remodeling	IEA Inferred from Electronic Annotation more info

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
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
is_active_in extracellular vesicle	IBA Inferred from Biological aspect of Ancestor more info
part_of high-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
part_of very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apolipoprotein A-V

Names: apo-AV; regeneration-associated protein 3

NCBI Reference Sequences (RefSeq)

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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

NG_015894.2 RefSeqGene

Range

5542..8054

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166598.2 → NP_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

B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3

UniProtKB/TrEMBL

A0A0B4RUS7, A8K9M4

Related

ENSP00000399701.2, ENST00000433069.2

Conserved Domains (1) summary

pfam01442
Location:72 → 262

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001371904.1 → NP_001358833.1 apolipoprotein A-V precursor

Status: REVIEWED

Source sequence(s)

AP006216

Consensus CDS

CCDS8376.2

UniProtKB/Swiss-Prot

B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3

UniProtKB/TrEMBL

A0A0B4RUS7, A8K9M4

Related

ENSP00000227665.4, ENST00000227665.9

Conserved Domains (1) summary

pfam01442
Location:72 → 262

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_052968.5 → NP_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

B0YIV9, Q3MIK6, Q6Q788, Q6UWK9, Q9UBJ3

UniProtKB/TrEMBL

A0A0B4RUS7, A8K9M4

Related

ENSP00000445002.1, ENST00000542499.5

Conserved Domains (1) summary

pfam01442
Location:72 → 262

Apolipoprotein; Apolipoprotein A1/A4/E domain