APOA4 apolipoprotein A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOA4provided by HGNC
Official Full Name: apolipoprotein A4provided by HGNC
Primary source: HGNC:HGNC:602
See related: Ensembl:ENSG00000110244 MIM:107690; AllianceGenome:HGNC:602
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
Summary: Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward small intestine (RPKM 1486.2) See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (116820700..116823304, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (116835812..116838412, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (116691416..116694020, 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?

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Title: Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Apolipoprotein A-IV of diabetic-foot patients upregulates tumor necrosis factor alpha expression in microfluidic arterial models.
Title: Apolipoprotein A-IV of diabetic-foot patients upregulates tumor necrosis factor α expression in microfluidic arterial models.
The distinct metabolism between large and small HDL indicates unique origins of human apolipoprotein A4.
Title: The distinct metabolism between large and small HDL indicates unique origins of human apolipoprotein A4.
Apolipoprotein A-IV Has Bi-Functional Actions in Alcoholic Hepatitis by Regulating Hepatocyte Injury and Immune Cell Infiltration.
Title: Apolipoprotein A-IV Has Bi-Functional Actions in Alcoholic Hepatitis by Regulating Hepatocyte Injury and Immune Cell Infiltration.
Serum apolipoprotein A-IV levels are associated with flow-mediated dilation in patients with type 2 diabetes mellitus.
Title: Serum apolipoprotein A-IV levels are associated with flow-mediated dilation in patients with type 2 diabetes mellitus.
Altered HDL proteome predicts incident CVD in chronic kidney disease patients.
Title: Altered HDL proteome predicts incident CVD in chronic kidney disease patients.
Depression Augments Plasma APOA4 without Changes of Plasma Lipids and Glucose in Female Adolescents Carrying G Allele of APOA4 rs5104.
Title: Depression Augments Plasma APOA4 without Changes of Plasma Lipids and Glucose in Female Adolescents Carrying G Allele of APOA4 rs5104.
Changes in serum levels of Apo AIV in patients with newly diagnosed hyperthyroidism and hypothyroidism: a preliminary study.
Title: Changes in serum levels of Apo AIV in patients with newly diagnosed hyperthyroidism and hypothyroidism: a preliminary study.
Apolipoprotein A4 Defines the Villus-Crypt Border in Duodenal Specimens for Celiac Disease Morphometry.
Title: Apolipoprotein A4 Defines the Villus-Crypt Border in Duodenal Specimens for Celiac Disease Morphometry.
Novel proteins associated with chronic intermittent hypoxia and obstructive sleep apnea: From rat model to clinical evidence.
Title: Novel proteins associated with chronic intermittent hypoxia and obstructive sleep apnea: From rat model to clinical evidence.

Submit: New GeneRIF Correction See all GeneRIFs (109)

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

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
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. 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
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
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

WI-19503 (e-PCR)
- UniSTS:53278

GDB:185195 (e-PCR)
- UniSTS:155434

ECD09091 (e-PCR)
- UniSTS:290137

ECD12438 (e-PCR)
- UniSTS:293471

ECD09878 (e-PCR)
- UniSTS:290919

ECD20167 (e-PCR)
- UniSTS:301171

NoName (e-PCR)
- UniSTS:481912

GDB:187004 (e-PCR)
- UniSTS:155531

ECD09182 (e-PCR)
- UniSTS:290226

G44371 (e-PCR)
- UniSTS:95156

REN72989 (e-PCR)
- UniSTS:397789

REN72990 (e-PCR)
- UniSTS:397790

REN72991 (e-PCR)
- UniSTS:397791

REN72992 (e-PCR)
- UniSTS:397792

REN72993 (e-PCR)
- UniSTS:397793

REN72994 (e-PCR)
- UniSTS:397794

REN72995 (e-PCR)
- UniSTS:397795

REN72996 (e-PCR)
- UniSTS:397796

REN72997 (e-PCR)
- UniSTS:397797

REN72998 (e-PCR)
- UniSTS:397798

GDB:555472 (e-PCR)
- UniSTS:157670

REN72999 (e-PCR)
- UniSTS:397799

REN73000 (e-PCR)
- UniSTS:397800

REN73001 (e-PCR)
- UniSTS:397801

REN73002 (e-PCR)
- UniSTS:397802

REN73003 (e-PCR)
- UniSTS:397803

REN73004 (e-PCR)
- UniSTS:397804

NoName (e-PCR)
- UniSTS:486133

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antioxidant activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables lipid transporter activity	TAS Traceable Author Statement 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 phosphatidylcholine-sterol O-acyltransferase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in acylglycerol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
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 cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chylomicron assembly	TAS Traceable Author Statement more info	PubMed
involved_in chylomicron remodeling	IC Inferred by Curator more info	PubMed
involved_in high-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response in mucosa	IDA Inferred from Direct Assay more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in leukocyte cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid homeostasis	IDA Inferred from Direct Assay more info	PubMed
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 negative regulation of plasma lipoprotein oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in peripheral nervous system axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylcholine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid efflux	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid efflux	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 fatty acid biosynthetic 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 triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-lipid complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of intestinal cholesterol absorption	IEA Inferred from Electronic Annotation more info
involved_in removal of superoxide radicals	IDA Inferred from Direct Assay more info	PubMed
involved_in response to lipid hydroperoxide	IDA Inferred from Direct Assay more info	PubMed
involved_in response to stilbenoid	IEA Inferred from Electronic Annotation more info
involved_in response to triglyceride	IEA Inferred from Electronic Annotation more info
involved_in reverse cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
involved_in very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
colocalizes_with cell surface	IDA Inferred from Direct Assay more info	PubMed
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 collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	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	NAS Non-traceable Author Statement 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
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
part_of low-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IEA Inferred from Electronic Annotation more info
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-IV

Names: apo-AIV; apoA-IV

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.