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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]
APOA5 (Apolipoprotein A5) is a Protein Coding gene. Diseases associated with APOA5 include Hyperlipoproteinemia, Type V and Hypertriglyceridemia, Familial. Among its related pathways are Lipoprotein metabolism and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include enzyme binding and heparin binding. An important paralog of this gene is APOA4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005543 | phospholipid binding | IDA | 12810715 |
GO:0008047 | enzyme activator activity | IDA | 16806135 |
GO:0008201 | heparin binding | IDA | 15878877 |
GO:0008289 | lipid binding | IDA | 12810715 |
GO:0015485 | cholesterol binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 18635818 |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
GO:0005770 | late endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Statin Pathway |
.71
|
|
4 | Metabolism |
.40
|
|
5 | Ca, cAMP and Lipid Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006641 | triglyceride metabolic process | IMP | 12417525 |
GO:0006695 | cholesterol biosynthetic process | IBA | 21873635 |
GO:0006869 | lipid transport | IDA | 15178420 |
GO:0010873 | positive regulation of cholesterol esterification | IBA | 21873635 |
GO:0010898 | positive regulation of triglyceride catabolic process | IDA | 18635818 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fenofibrate | Approved | Pharma | PPARalpha agonist | 185 | ||
Atorvastatin | Approved | Pharma | Inhibitor, Competitive | 893 | ||
Lovastatin | Approved, Investigational | Pharma | Inhibitor, Competitive, Agonist, Full agonist | HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor | 82 | |
Simvastatin | Approved | Pharma | Inhibitor, Competitive | HMG-CoA reductase inhibitor | 582 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
PC(18:1(9Z)e/2:0) |
|
|
||||
Phosphatidylcholines Group A |
|
68737-67-7 |
|
|||
Phosphatidylcholines Group B |
|
88542-95-4 |
|
|||
Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 | ||||
Triglycerides Group D |
|
620-64-4 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOA5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APOA5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APOA5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Apoa5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Apoa5 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | APOA5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APOA5 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apoa5 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
684818 | Uncertain Significance: not provided | 116,790,931(-) | ACTC/A | INFRAME_DELETION | |
724485 | Likely Benign: not provided | 116,790,284(-) | C/T | SYNONYMOUS_VARIANT | |
733372 | Likely Benign: not provided | 116,791,705(-) | G/GA | INTRON_VARIANT | |
779436 | Benign: not provided | 116,791,064(-) | G/C | SYNONYMOUS_VARIANT | |
rs1057522953 | Uncertain Significance: not provided | 116,791,629(-) | T/C | MISSENSE_VARIANT |