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APOC1 apolipoprotein C1 [ Homo sapiens (human) ]

Gene ID: 341, updated on 2-Nov-2024

Summary

Official Symbol
APOC1provided by HGNC
Official Full Name
apolipoprotein C1provided by HGNC
Primary source
HGNC:HGNC:607
See related
Ensembl:ENSG00000130208 MIM:107710; AllianceGenome:HGNC:607
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
APOC1B; 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
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Genomic context

See APOC1 in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44914325..44919346)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47739017..47744046)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45417582..45422603)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10744 Neighboring gene translocase of outer mitochondrial membrane 40 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45408370-45409172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45409975-45410777 Neighboring gene apolipoprotein E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45415901-45416660 Neighboring gene APOC1 promoter region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45418179-45418936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45430599-45431491 Neighboring gene apolipoprotein C1 pseudogene 1 Neighboring gene APOC4-APOC2 readthrough (NMD candidate) Neighboring gene apolipoprotein C4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

Description
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
EBI GWAS Catalog
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
EBI GWAS Catalog
A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
EBI GWAS Catalog
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
EBI GWAS Catalog
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS 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.
EBI GWAS Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
EBI GWAS Catalog
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
EBI GWAS Catalog
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
EBI GWAS Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
EBI GWAS Catalog
Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
EBI GWAS Catalog
Genome-wide association study of Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
EBI GWAS Catalog
LDL-cholesterol concentrations: a genome-wide association study.
EBI GWAS Catalog
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
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
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
EBI GWAS Catalog
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
EBI GWAS Catalog
Sorl1 as an Alzheimer's disease predisposition gene?
EBI GWAS Catalog
THOC5: a novel gene involved in HDL-cholesterol metabolism.
EBI GWAS Catalog

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    4945..9683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321065.2NP_001307994.1  apolipoprotein C-I isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1 and 3, encodes isoform a. 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
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    B2R526, P02654, Q6IB97
    UniProtKB/TrEMBL
    K7ERI9
    Related
    ENSP00000468029.1, ENST00000588802.5
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)
  2. NM_001321066.2NP_001307995.1  apolipoprotein C-I isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. Variants 1-3 all encode the same isoform (a). 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
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    B2R526, P02654, Q6IB97
    UniProtKB/TrEMBL
    K7ERI9
    Related
    ENSP00000465356.1, ENST00000588750.5
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)
  3. NM_001379687.1NP_001366616.1  apolipoprotein C-I isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longer isoform (b).
    Source sequence(s)
    AC011481
    Consensus CDS
    CCDS92639.1
    UniProtKB/TrEMBL
    K7EPF9
    Related
    ENSP00000467368.1, ENST00000592885.5
    Conserved Domains (1) summary
    pfam04691
    Location:2765
    ApoC-I; Apolipoprotein C-I (ApoC-1)
  4. NM_001645.5NP_001636.1  apolipoprotein C-I isoform a precursor

    See identical proteins and their annotated locations for NP_001636.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 2 and 3, encodes isoform a. This transcript is expressed primarily in the liver.
    Source sequence(s)
    AC011481, AK312036, CA445083
    Consensus CDS
    CCDS12648.1
    UniProtKB/Swiss-Prot
    B2R526, P02654, Q6IB97
    UniProtKB/TrEMBL
    K7ERI9
    Related
    ENSP00000468276.2, ENST00000592535.6
    Conserved Domains (1) summary
    pfam04691
    Location:2782
    ApoC-I; Apolipoprotein C-I (ApoC-1)

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    44914325..44919346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    47739017..47744046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)