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APOC1 apolipoprotein C1 [ Homo sapiens (human) ]

Gene ID: 341, updated on 3-Jun-2018
Official Symbol
APOC1provided by HGNC
Official Full Name
apolipoprotein C1provided by HGNC
Primary source
HGNC:HGNC:607
See related
Ensembl:ENSG00000130208 MIM:107710; Vega:OTTHUMG00000180844
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-CI; ApoC-I; apo-CIB; apoC-IB
Summary
This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Biased expression in liver (RPKM 1936.2) and adrenal (RPKM 201.2) See more
Orthologs
See APOC1 in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (44914247..44919349)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45417577..45422606)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 40 Neighboring gene apolipoprotein E Neighboring gene APOC1 promoter region Neighboring gene apolipoprotein C1 pseudogene 1 Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene apolipoprotein C4

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
NHGRI GWA Catalog
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
NHGRI GWA Catalog
A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
NHGRI GWA Catalog
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
NHGRI GWA Catalog
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
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
NHGRI GWA Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
NHGRI GWA Catalog
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
NHGRI GWA Catalog
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
NHGRI GWA Catalog
Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Genome-wide association study of Alzheimer's disease.
NHGRI GWA Catalog
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
NHGRI GWA Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
NHGRI GWA Catalog
LDL-cholesterol concentrations: a genome-wide association study.
NHGRI GWA Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
NHGRI GWA Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
NHGRI GWA Catalog
Seven new loci associated with age-related macular degeneration.
NHGRI GWA Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
NHGRI GWA Catalog
Sorl1 as an Alzheimer's disease predisposition gene?
NHGRI GWA Catalog
THOC5: a novel gene involved in HDL-cholesterol metabolism.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of apolipoprotein C-I (APOC1) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

  • 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...
  • Statin Pathway, organism-specific biosystem (from WikiPathways)
    Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fatty acid binding IDA
Inferred from Direct Assay
more info
PubMed 
lipase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine binding TAS
Traceable Author Statement
more info
PubMed 
phosphatidylcholine-sterol O-acyltransferase activator activity TAS
Traceable Author Statement
more info
PubMed 
phospholipase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
chylomicron remnant clearance IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle remodeling TAS
Traceable Author Statement
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
lipoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of lipoprotein lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphatidylcholine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of receptor-mediated endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of very-low-density lipoprotein particle clearance IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid efflux IDA
Inferred from Direct Assay
more info
PubMed 
plasma lipoprotein particle remodeling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cholesterol esterification TAS
Traceable Author Statement
more info
PubMed 
regulation of cholesterol transport IC
Inferred by Curator
more info
PubMed 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
very-low-density lipoprotein particle assembly TAS
Traceable Author Statement
more info
PubMed 
very-low-density lipoprotein particle clearance IGI
Inferred from Genetic Interaction
more info
PubMed 
very-low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chylomicron TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
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 

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_012859.1 RefSeqGene

    Range
    4892..9686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321065.1NP_001307994.1  apolipoprotein C-I precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence and initiates from an LTR promoter with weak activity in several cell types, including colon, brain lung, liver, kidney and placenta.(PMID: 11054415)
    Source sequence(s)
    AC011481, AK225971, CA445083, DA482306
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    P02654
    UniProtKB/TrEMBL
    A0A024R0T8
    Related
    ENSP00000468029.1, OTTHUMP00000265451, ENST00000588802.5, OTTHUMT00000453246
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)
  2. NM_001321066.1NP_001307995.1  apolipoprotein C-I precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest transcript. Variants 1, 2 and 3 encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence and initiates from an LTR promoter with weak activity in several cell types, including colon, brain lung, liver, kidney and placenta.(PMID: 11054415)
    Source sequence(s)
    BC055093, CA445083, DA482306
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    P02654
    UniProtKB/TrEMBL
    A0A024R0T8
    Related
    ENSP00000465356.1, OTTHUMP00000265450, ENST00000588750.5, OTTHUMT00000453245
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)
  3. NM_001645.4NP_001636.1  apolipoprotein C-I precursor

    See identical proteins and their annotated locations for NP_001636.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein. This transcript is expressed primarily in the liver.
    Source sequence(s)
    AC011481, AK312036, CA445083
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    P02654
    UniProtKB/TrEMBL
    A0A024R0T8
    Related
    ENSP00000468276.1, OTTHUMP00000265452, ENST00000592535.5, OTTHUMT00000453247
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)

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
    44914247..44919349
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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