APOA1 apolipoprotein A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOA1provided by HGNC
Official Full Name: apolipoprotein A1provided by HGNC
Primary source: HGNC:HGNC:600
See related: Ensembl:ENSG00000118137 MIM:107680; AllianceGenome:HGNC:600
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: HPALP2; apo(a)
Summary: This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
Expression: Biased expression in liver (RPKM 4032.4), small intestine (RPKM 1199.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (116835751..116837950, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (116850858..116853057, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (116706467..116708666, 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:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of apolipoprotein A1 with osteoporosis: a cross-sectional study.
Title: Association of apolipoprotein A1 with osteoporosis: a cross-sectional study.
Human apoA-I[Lys107del] mutation affects lipid surface behavior of apoA-I and its ability to form large nascent HDL.
Title: Human apoA-I[Lys107del] mutation affects lipid surface behavior of apoA-I and its ability to form large nascent HDL.
[Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].
Title: [Value of glycosylated hemoglobin A1c and apolipoprotein A-1 ratio on predicting outcome of patients with acute coronary syndrome].
Apolipoprotein A-1 protected hepatic ischaemia-reperfusion injury through suppressing macrophage pyroptosis via TLR4-NF-kappaB pathway.
Title: Apolipoprotein A-1 protected hepatic ischaemia-reperfusion injury through suppressing macrophage pyroptosis via TLR4-NF-κB pathway.
Molecular simulation unravels the amyloidogenic misfolding of nascent ApoA1 protein, driven by deleterious point mutations occurring in between 170-178 hotspot region.
Title: Molecular simulation unravels the amyloidogenic misfolding of nascent ApoA1 protein, driven by deleterious point mutations occurring in between 170-178 hotspot region.
Adiponectin Stimulates Apolipoprotein A-1 Gene Expression in HepG2 Cells via AMPK, PPARalpha, and LXRs Signaling Mechanisms.
Title: Adiponectin Stimulates Apolipoprotein A-1 Gene Expression in HepG2 Cells via AMPK, PPARα, and LXRs Signaling Mechanisms.
Importance of Polymorphisms in the Gene of Paraoxonase-1 (SNP rs662) and Apolipoprotein A-I (SNP rs670 and rs5069) in Non-Smoking and Smoking Healthy Subjects and Patients with Acute Pancreatitis.
Title: Importance of Polymorphisms in the Gene of Paraoxonase-1 (SNP rs662) and Apolipoprotein A-I (SNP rs670 and rs5069) in Non-Smoking and Smoking Healthy Subjects and Patients with Acute Pancreatitis.
Resolution of apolipoprotein A1 and A2 proteoforms: their cardiometabolic correlates and implications for future research.
Title: Resolution of apolipoprotein A1 and A2 proteoforms: their cardiometabolic correlates and implications for future research.
APOA1 mRNA and protein in kidney renal clear cell carcinoma correlate with the disease outcome.
Title: APOA1 mRNA and protein in kidney renal clear cell carcinoma correlate with the disease outcome.
Neuropeptide Y promotes hepatic apolipoprotein A1 synthesis and secretion through neuropeptide Y Y5 receptor.
Title: Neuropeptide Y promotes hepatic apolipoprotein A1 synthesis and secretion through neuropeptide Y Y5 receptor.

Submit: New GeneRIF Correction See all GeneRIFs (783)

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 visceral amyloidosis, Ostertag type MedGen: C0268389 OMIM: 105200 GeneReviews: Not available	Compare labs
Hypoalphalipoproteinemia, primary, 2 MedGen: C5551172 OMIM: 618463 GeneReviews: Not available	Compare labs
Hypoalphalipoproteinemia, primary, 2, intermediate MedGen: C5677030 OMIM: 619836 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese 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
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
Discovery and refinement of loci associated with lipid 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 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 of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. 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
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. 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
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Apolipoprotein A-1 competes with CD4 receptor binding to HIV-1 gp120 in human lymphocytes	PubMed
Nef	nef	HIV-1 Nef impairs cholesterol efflux from macrophages and inhibits internalization of apolipoprotein A1 from the plasma membrane	PubMed
	nef	Cav-1 interacts with HIV-1 Nef and restores Nef mediated impairment of apoA-I mediated cholesterol efflux in astrocyte derived glioblastoma cells and macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:182584 (e-PCR)
- UniSTS:155398

GDB:374151 (e-PCR)
- UniSTS:156944

ECD03090 (e-PCR)
- UniSTS:284177

RH1581 (e-PCR)
- UniSTS:88085

GDB:434790 (e-PCR)
- UniSTS:157212

REN72933 (e-PCR)
- UniSTS:397733

REN72934 (e-PCR)
- UniSTS:397734

REN72935 (e-PCR)
- UniSTS:397735

REN72936 (e-PCR)
- UniSTS:397736

G44357 (e-PCR)
- UniSTS:95144

REN72937 (e-PCR)
- UniSTS:397737

REN72938 (e-PCR)
- UniSTS:397738

REN72939 (e-PCR)
- UniSTS:397739

REN72940 (e-PCR)
- UniSTS:397740

REN72941 (e-PCR)
- UniSTS:397741

REN72942 (e-PCR)
- UniSTS:397742

REN72943 (e-PCR)
- UniSTS:397743

REN72944 (e-PCR)
- UniSTS:397744

REN72945 (e-PCR)
- UniSTS:397745

REN72946 (e-PCR)
- UniSTS:397746

REN72947 (e-PCR)
- UniSTS:397747

REN72948 (e-PCR)
- UniSTS:397748

REN72949 (e-PCR)
- UniSTS:397749

REN72950 (e-PCR)
- UniSTS:397750

RH11465 (e-PCR)
- UniSTS:50642

ECD02000 (e-PCR)
- UniSTS:283101

ECD02278 (e-PCR)
- UniSTS:283378

Homology

Homologs of the APOA1 gene: The APOA1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 303 organisms have orthologs with human gene APOA1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables apolipoprotein A-I receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables apolipoprotein receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables chemorepellent activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables high-density lipoprotein particle binding	IEA Inferred from Electronic Annotation more info
enables high-density lipoprotein particle receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables high-density lipoprotein particle receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylcholine-sterol O-acyltransferase activator activity	IDA Inferred from Direct Assay 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
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adrenal gland development	IEA Inferred from Electronic Annotation more info
involved_in blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in glucocorticoid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in high-density lipoprotein particle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in high-density lipoprotein particle clearance	IC Inferred by Curator more info	PubMed
involved_in high-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in lipoprotein biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell adhesion molecule production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cytokine production involved in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hydrolase activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-methionine modification	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CoA-transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in protein oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of Cdc42 protein signal transduction	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 regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in vitamin transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	TAS Traceable Author Statement more info
located_in endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endocytic vesicle lumen	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
part_of spherical high-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

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Preferred Names: apolipoprotein A-I

Names: apo-AI; epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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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

NG_012021.1 RefSeqGene

Range

5001..6870

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_767

mRNA and Protein(s)

NM_000039.3 → NP_000030.1 apolipoprotein A-I isoform 1 preproprotein

See identical proteins and their annotated locations for NP_000030.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform. Variants 1-3 encode the same isoform (1).

Source sequence(s)

X02162

Consensus CDS

CCDS8378.1

UniProtKB/Swiss-Prot

P02647, Q9UCT8

UniProtKB/TrEMBL

A0A024R3E3

Related

ENSP00000236850.3, ENST00000236850.5

Conserved Domains (1) summary

pfam01442
Location:74 → 258

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001318017.2 → NP_001304946.1 apolipoprotein A-I isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).

Source sequence(s)

AL557908, AP006216, X02162

Consensus CDS

CCDS8378.1

UniProtKB/Swiss-Prot

P02647, Q9UCT8

UniProtKB/TrEMBL

A0A024R3E3

Related

ENSP00000364469.1, ENST00000375320.5

Conserved Domains (1) summary

pfam01442
Location:74 → 258

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001318018.2 → NP_001304947.1 apolipoprotein A-I isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).

Source sequence(s)

AL531353, AP006216, T68127, X02162

Consensus CDS

CCDS8378.1

UniProtKB/Swiss-Prot

P02647, Q9UCT8

UniProtKB/TrEMBL

A0A024R3E3

Related

ENSP00000352471.2, ENST00000359492.6

Conserved Domains (1) summary

pfam01442
Location:74 → 258

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001318021.1 → NP_001304950.1 apolipoprotein A-I isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translation start site compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.

Source sequence(s)

BU600916, CD558050, X02162

UniProtKB/Swiss-Prot

P02647

Conserved Domains (1) summary

pfam01442
Location:1 → 133

Apolipoprotein; Apolipoprotein A1/A4/E domain