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
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
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (116835751..116837950, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (116706467..116708338, 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?

LRP1 and APOA1 Polymorphisms: Impact on Warfarin International Normalized Ratio-Related Phenotypes.
Title: LRP1 and APOA1 Polymorphisms: Impact on Warfarin International Normalized Ratio-Related Phenotypes.
Understanding the role of apolipoproteinA-I in atherosclerosis. Post-translational modifications synergize dysfunction?
Title: Understanding the role of apolipoproteinA-I in atherosclerosis. Post-translational modifications synergize dysfunction?
ApoA-I-HDL increased double over the past 35 years in Japanese cohort while apoA-I/A-II-HDL decreased.
Title: ApoA-I-HDL increased double over the past 35 years in Japanese cohort while apoA-I/A-II-HDL decreased.
Highly conserved amino acid residues in apolipoprotein A1 discordantly induce high density lipoprotein assembly in vitro and in vivo.
Title: Highly conserved amino acid residues in apolipoprotein A1 discordantly induce high density lipoprotein assembly in vitro and in vivo.
Apolipoprotein B/A-I Ratio Predicts Lesion Severity and Clinical Outcomes in Diabetic Patients With Acute Coronary Syndrome.
Title: Apolipoprotein B/A-I Ratio Predicts Lesion Severity and Clinical Outcomes in Diabetic Patients With Acute Coronary Syndrome.
Apolipoprotein B Level and the Apolipoprotein B/Apolipoprotein A-I Ratio as a Harbinger of Ischemic Stroke: A Prospective Observation in Taiwan.
Title: Apolipoprotein B Level and the Apolipoprotein B/Apolipoprotein A-I Ratio as a Harbinger of Ischemic Stroke: A Prospective Observation in Taiwan.
A misprocessed form of Apolipoprotein A-I is specifically associated with recurrent Focal Segmental Glomerulosclerosis.
Title: A misprocessed form of Apolipoprotein A-I is specifically associated with recurrent Focal Segmental Glomerulosclerosis.
Placental secretion of apolipoprotein A1 and E: the anti-atherogenic impact of the placenta.
Title: Placental secretion of apolipoprotein A1 and E: the anti-atherogenic impact of the placenta.
The In Vitro Biotransformation of the Fusion Protein Tetranectin-Apolipoprotein A1.
Title: The In Vitro Biotransformation of the Fusion Protein Tetranectin-Apolipoprotein A1.
Diagnostic and prognostic significance of mRNA expressions of apolipoprotein A and C family genes in hepatitis B virus-related hepatocellular carcinoma.
Title: Diagnostic and prognostic significance of mRNA expressions of apolipoprotein A and C family genes in hepatitis B virus-related hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (724)

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
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. GeneReviews: Not available
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia. GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available
Familial visceral amyloidosis, Ostertag type MedGen: C0268389 OMIM: 105200 GeneReviews: Not available	Compare labs
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. GeneReviews: Not available
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. GeneReviews: Not available
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. GeneReviews: Not available
HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 MedGen: CN262194 OMIM: 618463 GeneReviews: Not available	not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. GeneReviews: Not available
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis. GeneReviews: Not available
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. GeneReviews: Not available

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: 222 organisms have orthologs with human gene APOA1
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
NOT ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
adrenal gland development	IEA Inferred from Electronic Annotation more info
animal organ regeneration	IEA Inferred from Electronic Annotation more info
blood vessel endothelial cell migration	IEA Inferred from Electronic Annotation more info
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 efflux	IDA Inferred from Direct Assay more info	PubMed
cholesterol efflux	IMP Inferred from Mutant Phenotype 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
cholesterol homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol import	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
chylomicron assembly	TAS Traceable Author Statement more info
chylomicron remodeling	TAS Traceable Author Statement more info
endothelial cell proliferation	IEA Inferred from Electronic Annotation more info
glucocorticoid metabolic process	IEA Inferred from Electronic Annotation more info
high-density lipoprotein particle assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
high-density lipoprotein particle assembly	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle assembly	TAS Traceable Author Statement more info
high-density lipoprotein particle clearance	IC Inferred by Curator more info	PubMed
high-density lipoprotein particle clearance	TAS Traceable Author Statement more info
high-density lipoprotein particle remodeling	IC Inferred by Curator more info	PubMed
high-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle remodeling	TAS Traceable Author Statement more info
integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
lipid storage	IEA Inferred from Electronic Annotation more info
lipoprotein biosynthetic process	IEA Inferred from Electronic Annotation more info
lipoprotein metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
negative chemotaxis	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell adhesion molecule production	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cytokine production involved in immune response	IDA Inferred from Direct Assay more info	PubMed
negative regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
negative regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
negative regulation of lipase activity	IEA Inferred from Electronic Annotation more info
negative regulation of response to cytokine stimulus	IDA Inferred from Direct Assay more info	PubMed
negative regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
peptidyl-methionine modification	IDA Inferred from Direct Assay more info	PubMed
peripheral nervous system axon regeneration	IEA Inferred from Electronic Annotation more info
phosphatidylcholine biosynthetic process	IDA Inferred from Direct Assay 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
phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
phospholipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
platelet degranulation	TAS Traceable Author Statement more info
positive regulation of Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cholesterol esterification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of cholesterol esterification	IDA Inferred from Direct Assay more info	PubMed
positive regulation of fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of hydrolase activity	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 lipoprotein lipase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
positive regulation of stress fiber assembly	IDA Inferred from Direct Assay more info	PubMed
positive regulation of substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
positive regulation of triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
post-translational protein modification	TAS Traceable Author Statement more info
protein oxidation	IDA Inferred from Direct Assay more info	PubMed
protein stabilization	IDA Inferred from Direct Assay more info	PubMed
receptor-mediated endocytosis	TAS Traceable Author Statement more info
regulation of Cdc42 protein signal transduction	IDA Inferred from Direct Assay 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
regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
response to drug	IEA Inferred from Electronic Annotation more info
response to estrogen	IEA Inferred from Electronic Annotation more info
response to nutrient	IEA Inferred from Electronic Annotation more info
retinoid metabolic process	TAS Traceable Author Statement more info
reverse cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
NOT transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info
triglyceride homeostasis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
triglyceride homeostasis	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle remodeling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
vitamin transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
blood microparticle	HDA more info	PubMed
cell surface	IEA Inferred from Electronic Annotation more info
chylomicron	IBA Inferred from Biological aspect of Ancestor more info	PubMed
collagen-containing extracellular matrix	HDA more info	PubMed
cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
discoidal high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
early endosome	TAS Traceable Author Statement more info
endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
endocytic vesicle lumen	TAS Traceable Author Statement more info
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed
extracellular region	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	HDA more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
extracellular vesicle	HDA 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
high-density lipoprotein particle	TAS Traceable Author Statement more info	PubMed
intermediate-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
secretory granule lumen	TAS Traceable Author Statement more info
spherical high-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

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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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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

UniProtKB/TrEMBL

A0A024R3E3

Related

ENSP00000236850.3, ENST00000236850.4

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

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

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