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This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
APOA1 (Apolipoprotein A1) is a Protein Coding gene. Diseases associated with APOA1 include Hypoalphalipoproteinemia, Primary, 2 and Amyloidosis, Familial Visceral. Among its related pathways are Lipoprotein metabolism and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is APOA4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001540 | amyloid-beta binding | IDA,IPI | 9211985 |
GO:0005102 | signaling receptor binding | IPI | 27477018 |
GO:0005319 | lipid transporter activity | IEA | -- |
GO:0005515 | protein binding | IPI | 1587806 |
GO:0005543 | phospholipid binding | IDA | 12810715 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005615 | extracellular space | IDA,ISS | 22261194 |
GO:0005634 | nucleus | IEA | -- |
GO:0005769 | early endosome | TAS | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0001935 | endothelial cell proliferation | IEA | -- |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0002719 | negative regulation of cytokine production involved in immune response | IDA | 12458630 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Fenofibrate | Approved | Pharma | PPARalpha agonist | 185 | ||
cholesterol | Approved, Investigational | Pharma | Agonist | 0 | ||
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Zinc | Approved, Investigational | Pharma | Target | 1594 | ||
zinc acetate | Approved, Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 | ||||
Triglycerides Group D |
|
620-64-4 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | |||||||||||||||||
SP4: | - | ||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APOA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APOA1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Apoa1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Apoa1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | APOA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | APOA1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APOA1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apoa1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | apoa1b 30 31 |
|
OneToMany | |
apoa1a 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636899 | Conflicting Interpretations: Chronic kidney disease; not provided | 116,836,218(-) | ACTT/A | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION | |
734624 | Likely Benign: not provided | 116,836,285(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
757032 | Likely Benign: not provided | 116,836,129(-) | C/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
877608 | Likely Benign: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia | 116,835,791(-) | G/A | THREE_PRIME_UTR_VARIANT | |
877609 | Uncertain Significance: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia | 116,835,907(-) | G/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypoalphalipoproteinemia, primary, 2 |
|
|
amyloidosis, familial visceral |
|
|
aapoai amyloidosis |
|
|
tangier disease |
|
|
hypoalphalipoproteinemia |
|