APOA5 Gene Summary [Human]

The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]

Details

Type
Protein Coding
Official Symbol
APOA5
Official Name
apolipoprotein A5 [Source:HGNC Symbol;Acc:HGNC:17288]
Ensembl ID
ENSG00000110243
Bio databases IDs NCBI: 116519 Ensembl: ENSG00000110243
Aliases apolipoprotein A5
Synonyms 1300007O05Rik, APOAV, apolipoprotein A5, apolipoprotein A-V, HTGS, RAP3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APOA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phospholipid binding
  • lipid binding
  • binding protein
  • enzyme binding
  • protein binding
  • low-density lipoprotein receptor binding
  • receptor binding
  • enzyme activator activity
  • proline rich domain
  • heparin binding
  • Apolipoprotein A1/A4/E domain
  • transporter

Pathways

Biological processes and signaling networks where the APOA5 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • hepatocellular carcinoma
  • liver cancer
  • hypertriglyceridemia type I
  • dyslipidemia
  • coronary artery disease
  • hyperlipoproteinemia type V
  • metabolic syndrome X
  • hypertriglyceridemia
  • diabetes mellitus
regulated by
regulates
  • cholesterol
  • lipid
  • triacylglycerol
  • APOE
  • HDL
  • APOA5
  • LPL
  • LDL/cholesterol
  • LCAT
  • HDL/cholesterol

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • lipid droplets
  • cytosol
  • endoplasmic reticulum lumen
  • early endosomes
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human APOA5 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • triglyceride-rich lipoprotein particle remodeling
  • cholesterol metabolic process
  • triglyceride metabolic process
  • lipoprotein metabolic process
  • tissue regeneration
  • cholesterol homeostasis
  • acylglycerol homeostasis
  • positive regulation of fatty acid biosynthetic process
  • lipid transport
  • positive regulation of very-low-density lipoprotein particle remodeling
  • cholesterol efflux
  • positive regulation of triglyceride catabolic process
  • triglyceride catabolic process
  • triglyceride homeostasis
  • positive regulation of receptor-mediated endocytosis
  • positive regulation of lipoprotein lipase activity
  • phospholipid efflux
  • positive regulation of lipid catabolic process

Cellular Component

Where in the cell the gene product is active
  • very-low-density lipoprotein particle
  • endoplasmic reticulum lumen
  • extracellular space
  • early endosome
  • chylomicron
  • high-density lipoprotein particle
  • low-density lipoprotein particle
  • late endosome
  • Golgi apparatus
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • lipase binding
  • lipoprotein lipase activator activity
  • phosphatidylcholine-sterol O-acyltransferase activator activity
  • lipase activator activity
  • lipid binding
  • heparin binding
  • enzyme activator activity
  • phospholipid binding
  • low-density lipoprotein particle receptor binding
  • protein binding
  • lipoprotein particle receptor binding
  • phosphatidylcholine binding
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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