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APOA4 apolipoprotein A4 [ Homo sapiens (human) ]

Gene ID: 337, updated on 10-Dec-2024

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
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Genomic context

See APOA4 in Genome Data Viewer
Location:
11q23.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (116820700..116823304, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (116835812..116838412, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (116691416..116694020, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene enhancer-blocking element 11-1-2 overlapping APOA5 Neighboring gene apolipoprotein A5 Neighboring gene lncRNA regulator of hepatic lineages 1 Neighboring gene skeletal muscle cis-regulatory module in APOA4 and APOC3 intergenic region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:116700143-116701075 Neighboring gene apolipoprotein C3 Neighboring gene APOA1 antisense RNA Neighboring gene apolipoprotein A1

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

EBI GWAS Catalog

Items 1 - 10 of 14
Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
EBI GWAS Catalog
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
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
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
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
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
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
Items 1 - 10 of 14

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC142154, MGC142156

Gene Ontology Provided by GOA

Items 1 - 25 of 34
Process Evidence Code Pubs
involved_in acylglycerol homeostasis  
involved_in cholesterol efflux  
involved_in cholesterol efflux PubMed 
involved_in cholesterol homeostasis PubMed 
involved_in cholesterol metabolic process  
involved_in cholesterol metabolic process PubMed 
involved_in chylomicron assembly PubMed 
involved_in chylomicron remodeling PubMed 
involved_in high-density lipoprotein particle remodeling PubMed 
involved_in hydrogen peroxide catabolic process PubMed 
involved_in innate immune response in mucosa PubMed 
involved_in leukocyte cell-cell adhesion PubMed 
involved_in lipid catabolic process PubMed 
involved_in lipid homeostasis PubMed 
involved_in lipid transport PubMed 
involved_in lipoprotein metabolic process  
involved_in negative regulation of plasma lipoprotein oxidation PubMed 
involved_in peripheral nervous system axon regeneration  
involved_in phosphatidylcholine metabolic process PubMed 
involved_in phospholipid efflux  
involved_in phospholipid efflux PubMed 
involved_in positive regulation of CoA-transferase activity PubMed 
involved_in positive regulation of fatty acid biosynthetic process PubMed 
involved_in positive regulation of lipoprotein lipase activity PubMed 
involved_in positive regulation of triglyceride catabolic process PubMed 
involved_in protein-lipid complex assembly PubMed 
involved_in regulation of cholesterol transport PubMed 
involved_in regulation of intestinal cholesterol absorption  
involved_in removal of superoxide radicals PubMed 
involved_in response to lipid hydroperoxide PubMed 
involved_in response to stilbenoid  
involved_in response to triglyceride  
involved_in reverse cholesterol transport PubMed 
involved_in very-low-density lipoprotein particle remodeling PubMed 
Items 1 - 25 of 34
Items 1 - 20 of 21
Component Evidence Code Pubs
located_in blood microparticle PubMed 
colocalizes_with cell surface PubMed 
part_of chylomicron  
part_of chylomicron PubMed 
located_in collagen-containing extracellular matrix PubMed 
located_in cytosol  
located_in early endosome  
located_in endoplasmic reticulum lumen  
located_in extracellular exosome PubMed 
located_in extracellular region PubMed 
located_in extracellular region PubMed 
located_in extracellular region  
located_in extracellular space PubMed 
located_in extracellular space PubMed 
is_active_in extracellular vesicle  
part_of high-density lipoprotein particle  
part_of high-density lipoprotein particle PubMed 
part_of low-density lipoprotein particle  
located_in synapse  
part_of very-low-density lipoprotein particle  
part_of very-low-density lipoprotein particle PubMed 
Items 1 - 20 of 21

General protein information

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.

Genomic

  1. NG_012044.1 RefSeqGene

    Range
    4992..7596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000482.4NP_000473.2  apolipoprotein A-IV precursor

    See identical proteins and their annotated locations for NP_000473.2

    Status: REVIEWED

    Source sequence(s)
    AL531739, AP006216
    Consensus CDS
    CCDS31681.1
    UniProtKB/Swiss-Prot
    A8MSL6, P06727, Q14CW8, Q6Q787
    Related
    ENSP00000350425.3, ENST00000357780.5
    Conserved Domains (1) summary
    pfam01442
    Location:66235
    Apolipoprotein; Apolipoprotein A1/A4/E domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    116820700..116823304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    116835812..116838412 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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