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This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
ALOX12 (Arachidonate 12-Lipoxygenase, 12S Type) is a Protein Coding gene. Diseases associated with ALOX12 include Toxoplasmosis and Squamous Cell Carcinoma. Among its related pathways are Eicosanoid Synthesis and HETE and HPETE biosynthesis and metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and arachidonate 12-lipoxygenase activity. An important paralog of this gene is ALOX15.
Lipoxygenases (LOXs) are a family of non-heme iron dioxygenases that are involved in the production and metabolism of fatty acid hydroperoxidases. There are six lipoxygenase isozymes; 5-LOX, 12R-LOX, 12S-LOX, 15-LOX-1, 15-LOX-2 and E-LOX.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004052 | arachidonate 12-lipoxygenase activity | IBA,IDA | 1851637 |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10727209 |
GO:0016165 | linoleate 13S-lipoxygenase activity | IBA,IDA | 8319693 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 8319693 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA,IDA | 8912711 |
GO:0042383 | sarcolemma | IBA,IDA | 15107407 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Arachidonic acid metabolism | ||
3 | HETE and HPETE biosynthesis and metabolism |
HETE and HPETE biosynthesis and metabolism
-
|
|
4 | Antifolate resistance | ||
5 | Linoleic acid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA,IDA | 17493578 |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0007568 | aging | IEA | -- |
GO:0010628 | positive regulation of gene expression | IEA | -- |
GO:0010656 | negative regulation of muscle cell apoptotic process | IMP | 23578768 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Iron | Approved, Experimental | Pharma | 1560 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Celecoxib | Approved, Investigational | Pharma | Inhibitor, Inhibition | Selective cyclooxygenase-2 (COX-2) inhibitor | 536 | |
arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 40 | ||
Baicalein | Pharma | Lipoxygenases inhibitor, 5- and 12-Lipoxygenase inhibitor | 1 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
12(S)-HPETE |
|
71774-10-2 |
|
Compound | Action | Cas Number |
---|---|---|
2-TEDC | 5-, 12-, 15-Lipoxygenase inhibitor | 132465-10-2 |
Baicalein | 5- and 12-Lipoxygenase inhibitor | 491-67-8 |
BAY-X 1005 | Orally active 5-lipoxygenase activating protein (FLAP) inhibitor | 128253-31-6 |
BW-B 70C | 5-Lipoxygenase inhibitor | 134470-38-5 |
MK 886 | Inhibitor of 5-lipoxygenase-activating protein (FLAP) | 118414-82-7 |
Compound | Action | Cas Number |
---|---|---|
Baicalein | Lipoxygenases inhibitor | 491-67-8 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALOX12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALOX12 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALOX12 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Alox12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Alox12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | alox12 30 31 |
|
OneToMany | |
wufb72a11 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
CSA.6148 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714724 | Benign: not provided | 7,005,898(+) | G/A | MISSENSE_VARIANT | |
783067 | Likely Benign: not provided | 7,005,306(+) | G/A | MISSENSE_VARIANT | |
791340 | Benign: not provided | 6,998,976(+) | G/A | MISSENSE_VARIANT | |
rs1126667 | - | p.Gln261Arg | |||
rs114985038 | - | p.Asp134His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1008363 | CNV | loss | 20482838 |
esv2422288 | CNV | deletion | 17116639 |
nsv457659 | CNV | loss | 19166990 |
nsv574322 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
toxoplasmosis |
|
|
squamous cell carcinoma |
|
|
acute pericementitis |
|
|
adenoma |
|
|
prostate cancer |
|