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    APOC1 apolipoprotein C1 [ Homo sapiens (human) ]

    Gene ID: 341, updated on 19-May-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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