APOC1

Gene Information
 
Gene Symbol
APOC1
 
Aliases
Apo-CI, ApoC-I, apo-CIB, apoC-IB
 
Entrez Gene ID
341
 
Gene Name
Apolipoprotein C1
 
Chromosomal Location
19q13.32
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006629 Biological process Lipid metabolic process TAS 2897845
GO:0010873 Biological process Positive regulation of cholesterol esterification TAS 18992221
GO:0010900 Biological process Negative regulation of phosphatidylcholine catabolic process IDA 2302419
GO:0010916 Biological process Negative regulation of very-low-density lipoprotein particle clearance IDA 1917954
GO:0032374 Biological process Regulation of cholesterol transport IC 15576844
Protein Information
 
Protein Name
Apolipoprotein C-I
 
Function
Inhibitor of lipoprotein binding to the low density lipoprotein (LDL) receptor, LDL receptor-related protein, and very low density lipoprotein (VLDL) receptor. Associates with high density lipoproteins (HDL) and the triacylglycerol-rich lipoproteins in the plasma and makes up about 10% of the protein of the VLDL and 2% of that of HDL. Appears to interfere directly with fatty acid uptake and is also the major plasma inhibitor of cholesteryl ester transfer protein (CETP). Binds free fatty acids and reduces their intracellular esterification. Modulates the interaction of APOE with beta-migrating VLDL and inhibits binding of beta-VLDL to the LDL receptor-related protein.
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF04691 ApoC-I
Pathways
 
KEGG
 
Reactome
 

Cholesterol metabolism

 

VLDL assembly
VLDL clearance
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux

Interactions
 
STRING MINT IntAct
ENSP00000418823 Q9C0B1
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Myocardial Failure
Endocrine System Diseases
PCOS
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ApoCIII and ApoCII 
Dysfunction and potential cardiovascular risk 
 
 
Related 
 
ApoCI was higher in PCOS group 

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