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The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
SOAT1 (Sterol O-Acyltransferase 1) is a Protein Coding gene. Diseases associated with SOAT1 include Chronic Leukemia and Sitosterolemia. Among its related pathways are Lipoprotein metabolism and cholesterol biosynthesis III (via desmosterol). Gene Ontology (GO) annotations related to this gene include cholesterol binding and sterol O-acyltransferase activity. An important paralog of this gene is SOAT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000062 | fatty-acyl-CoA binding | IBA,IDA | 16647063 |
GO:0004772 | sterol O-acyltransferase activity | IDA,IMP | 8407899 |
GO:0005515 | protein binding | IPI | 21044950 |
GO:0008374 | O-acyltransferase activity | IBA | 21873635 |
GO:0015485 | cholesterol binding | IDA | 16647063 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | 10623671 |
GO:0005789 | endoplasmic reticulum membrane | IDA,TAS | -- |
GO:0016020 | membrane | IDA | 9756919 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Statin Pathway |
.71
|
|
2 | Lipoprotein metabolism | ||
3 | Metabolism |
.40
|
|
4 | cholesterol biosynthesis III (via desmosterol) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0008202 | steroid metabolic process | IEA | -- |
GO:0008203 | cholesterol metabolic process | IBA,IMP | 8407899 |
GO:0010742 | macrophage derived foam cell differentiation | NAS | 18971559 |
GO:0010878 | cholesterol storage | IMP | 8407899 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ezetimibe | Approved | Pharma | Target, inhibitor | Cholesterol transport inhibitor | 333 | |
cholesterol | Approved, Investigational | Pharma | Agonist | 0 | ||
Omega-3-acid ethyl esters | Approved, Investigational | Pharma | Enzyme, inhibitor | 0 | ||
Hesperetin | Experimental | Pharma | Target, inhibitor | 0 | ||
CE(18:2(9Z,12Z)) | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOAT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC490325 30 |
|
||
SOAT1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | SOAT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Soat1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Soat1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOAT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | SOAT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOAT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | soat1 30 |
|
||
Str.11436 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | soat1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012216 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8112 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mboa-1 30 31 |
|
OneToMany | |
B0395.2 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARE1 31 |
|
ManyToMany | |
ARE2 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
746440 | Likely Benign: not provided | 179,302,789(+) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
767731 | Benign: not provided | 179,341,109(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
767732 | Benign: not provided | 179,341,178(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
773819 | Benign: not provided | 179,342,188(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
780280 | Benign: not provided | 179,341,140(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv121e212 | CNV | loss | 25503493 |
dgv223n106 | CNV | deletion | 24896259 |
dgv643n54 | CNV | loss | 21841781 |
esv2666168 | CNV | deletion | 23128226 |
esv2762031 | CNV | gain | 21179565 |
esv3575338 | CNV | gain | 25503493 |
esv3578289 | CNV | loss | 25503493 |
esv3588049 | CNV | loss | 21293372 |
esv990767 | CNV | deletion | 20482838 |
nsv1005278 | CNV | gain | 25217958 |
nsv518403 | CNV | gain | 19592680 |
nsv523708 | CNV | loss | 19592680 |
nsv548277 | CNV | loss | 21841781 |
nsv548279 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chronic leukemia |
|
|
sitosterolemia |
|
|
familial hypercholesterolemia |
|
|
alzheimer disease 4 |
|
|
atherosclerosis susceptibility |
|