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    APOC1 apolipoprotein C1 [ Homo sapiens (human) ]

    Gene ID: 341, updated on 27-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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
    • 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)