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APOC4 apolipoprotein C4 [ Homo sapiens (human) ]

Gene ID: 346, updated on 5-Aug-2018

Summary

Official Symbol
APOC4provided by HGNC
Official Full Name
apolipoprotein C4provided by HGNC
Primary source
HGNC:HGNC:611
See related
Ensembl:ENSG00000267467 MIM:600745; Vega:OTTHUMG00000180845
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
APO-CIV; APOC-IV
Summary
This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]
Expression
Restricted expression toward liver (RPKM 124.3) See more
Orthologs

Genomic context

See APOC4 in Genome Data Viewer
Location:
19q13.32
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (44942238..44945496)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45445495..45448753)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene APOC1 promoter region Neighboring gene apolipoprotein C1 Neighboring gene apolipoprotein C1 pseudogene 1 Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene apolipoprotein C2 Neighboring gene CLPTM1, transmembrane protein

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • VLDL biosynthesis, organism-specific biosystem (from REACTOME)
    VLDL biosynthesis, organism-specific biosystemVery low-density lipoprotein (VLDL) is synthesised in the liver in two steps. First, apolipoprotein B-100 (APOB-100) is co- and post-translationally lipidated in the rough ER lumen. After transfer to...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough APOC4-APOC2

Readthrough gene: APOC4-APOC2, Included gene: APOC2

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sequestering of triglyceride IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of sequestering of triglyceride IMP
Inferred from Mutant Phenotype
more info
PubMed 
triglyceride homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
very-low-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
 
very-low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
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 
very-low-density lipoprotein particle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very-low-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
very-low-density lipoprotein particle IMP
Inferred from Mutant Phenotype
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001646.2NP_001637.1  apolipoprotein C-IV precursor

    See identical proteins and their annotated locations for NP_001637.1

    Status: REVIEWED

    Source sequence(s)
    AV690709, BC020723, DB185657
    Consensus CDS
    CCDS12649.1
    UniProtKB/Swiss-Prot
    P55056
    Related
    ENSP00000468236.1, OTTHUMP00000265459, ENST00000592954.1, OTTHUMT00000453255
    Conserved Domains (1) summary
    pfam15119
    Location:31124
    APOC4; Apolipoprotein C4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    44942238..44945496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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