Version: 8.0.0Date: Tue Jan 28 2025
Gene
APOC3
- Species
- Homo sapiens
- Symbol
- APOC3
- Name
- apolipoprotein C3
- Synonyms
- Apo-C3
- apo-CIII
- Biotype
- protein coding gene
- Automated Description
- Enables high-density lipoprotein particle receptor binding activity; lipase inhibitor activity; and phospholipid binding activity. Involved in several processes, including negative regulation of cellular component organization; negative regulation of lipid metabolic process; and negative regulation of lipoprotein particle clearance. Located in extracellular space. Part of chylomicron; spherical high-density lipoprotein particle; and triglyceride-rich plasma lipoprotein particle. Implicated in several diseases, including apolipoprotein C-III deficiency; chronic kidney disease; familial hyperlipidemia (multiple); glucose metabolism disease (multiple); and hepatocellular carcinoma. Biomarker of several diseases, including carcinoma (multiple); chronic kidney disease (multiple); diabetes mellitus (multiple); lupus nephritis; and renal artery obstruction.
- RGD Description
- This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR14225
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr11:116829706...116833072 + (3.37 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.