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Apoliprotein (apo) A-IV gene contains 3 exons separated by two introns. A sequence polymorphism has been identified in the 3'UTR of the third exon. The primary translation product is a 396-residue preprotein which after proteolytic processing is secreted its primary site of synthesis, the intestine, in association with chylomicron particles. Although its precise function is not known, apo A-IV is a potent activator of lecithin-cholesterol acyltransferase in vitro. [provided by RefSeq, Jul 2008]
APOA4 (Apolipoprotein A4) is a Protein Coding gene. Diseases associated with APOA4 include Carotenemia and Familial Hypercholesterolemia. Among its related pathways are Lipoprotein metabolism and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and copper ion binding. An important paralog of this gene is APOA5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005319 | lipid transporter activity | TAS | 3080432 |
GO:0005507 | copper ion binding | IDA | 16945374 |
GO:0005515 | protein binding | IPI | 24311788 |
GO:0005543 | phospholipid binding | IBA | 21873635 |
GO:0008289 | lipid binding | IMP | 16159879 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 1935934 |
GO:0005769 | early endosome | TAS | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Statin Pathway |
.71
|
|
2 | Lipoprotein metabolism | ||
3 | Metabolism of fat-soluble vitamins | ||
4 | Metabolism |
.40
|
|
5 | Ca, cAMP and Lipid Signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0002227 | innate immune response in mucosa | IDA | 15254593 |
GO:0006695 | cholesterol biosynthetic process | IBA | 21873635 |
GO:0006869 | lipid transport | IDA | 1935934 |
GO:0006982 | response to lipid hydroperoxide | IDA | 16945374 |
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 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | APOA4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | APOA4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | APOA4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Apoa4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Apoa4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | APOA4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | APOA4 30 |
|
||
APOAIV 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | APOA4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | apoa4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-7f3.15 30 |
|
||
apoa4 31 |
|
OneToMany | |||
APOA4 (4 of 4) 31 |
|
OneToMany | |||
APOA4 (1 of 4) 31 |
|
OneToMany | |||
APOA4 (3 of 4) 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710015 | Benign: not provided | 116,821,001(-) | A/C | MISSENSE_VARIANT | |
763888 | Likely Benign: not provided | 116,821,053(-) | G/A | SYNONYMOUS_VARIANT | |
788568 | Benign: not provided | 116,821,050(-) | C/A | SYNONYMOUS_VARIANT | |
791548 | Benign: not provided | 116,821,212(-) | G/A | SYNONYMOUS_VARIANT | |
791549 | Benign: not provided | 116,821,278(-) | G/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
carotenemia |
|
|
familial hypercholesterolemia |
|
|
amyloidosis, familial visceral |
|
|
hyperlipidemia, familial combined, 3 |
|
|
hypobetalipoproteinemia, familial, 1 |
|
|