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APOC4 apolipoprotein C4 [ Homo sapiens (human) ]

Gene ID: 346, updated on 24-Nov-2020

Summary

Official Symbol
APOC4provided by HGNC
Official Full Name
apolipoprotein C4provided by HGNC
Primary source
HGNC:HGNC:611
See related
Ensembl:ENSG00000267467 MIM:600745
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
109.20201120 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (44942237..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 regulator of GABA type A receptor forward trafficking

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

Associated conditions

Description Tests
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available

Pathways from PubChem

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 
protein binding IPI
Inferred from Physical Interaction
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_001646.3NP_001637.1  apolipoprotein C-IV precursor

    See identical proteins and their annotated locations for NP_001637.1

    Status: REVIEWED

    Source sequence(s)
    AC011481, AV690709, BC020723, DB185657
    Consensus CDS
    CCDS12649.1
    UniProtKB/Swiss-Prot
    P55056
    Related
    ENSP00000468236.1, ENST00000592954.2
    Conserved Domains (1) summary
    pfam15119
    Location:31124
    APOC4; Apolipoprotein C4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    44942237..44945496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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