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Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
ASAH2 (N-Acylsphingosine Amidohydrolase 2) is a Protein Coding gene. Diseases associated with ASAH2 include Sphingolipidosis and Lipogranulomatosis. Among its related pathways are Sphingolipid signaling pathway and Metabolism. Gene Ontology (GO) annotations related to this gene include N-acylsphingosine amidohydrolase activity. An important paralog of this gene is ASAH2B.
Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | IDA | 26190575 |
GO:0008270 | zinc ion binding | IDA | 26190575 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0017040 | N-acylsphingosine amidohydrolase activity | IEA,IMP | 10781606 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005576 | extracellular region | IBA | 21873635 |
GO:0005615 | extracellular space | IEA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 10781606 |
GO:0005794 | Golgi apparatus | IEA,IDA | 30154232 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
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3 | Sphingolipid signaling pathway | ||
4 | S-1P Stimulated Signaling |
S-1P Stimulated Signaling
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5 | sphingosine and sphingosine-1-phosphate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0006670 | sphingosine metabolic process | IMP | 10781606 |
GO:0006672 | ceramide metabolic process | IDA | 26190575 |
GO:0006915 | apoptotic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Palmitic Acid | Approved | Pharma | Agonist, Full agonist | 27 | ||
Stearic acid | Approved, Experimental | Pharma | 0 | |||
Water | Approved | Pharma | 0 | |||
Sphingosine | Experimental | Pharma | 0 | |||
arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 40 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
glucosylceramide |
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N-Oleoylethanolamine |
|
111-58-0 | ||||
3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
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|||
3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
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||||
3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
Compound | Action | Cas Number |
---|---|---|
Ceranib 1 | Ceramidase inhibitor; antiproliferative | 328076-61-5 |
Compound | Action | Cas Number |
---|---|---|
Ceranib 1 | 328076-61-5 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASAH2 30 |
|
||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
ASAH2B 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | ASAH2 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Asah2 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Asah2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | ASAH2 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asah2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | asah2 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CDase 30 31 |
|
OneToMany | |
CG1471 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003730 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G38010 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.13216 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0624000 30 |
|
||
Os.652 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv138e199 | CNV | deletion | 23128226 |
dgv853n100 | CNV | gain | 25217958 |
esv24278 | CNV | gain | 19812545 |
esv3891809 | CNV | gain | 25118596 |
nsv1037778 | CNV | gain | 25217958 |
nsv1051087 | CNV | loss | 25217958 |
nsv1053293 | CNV | gain | 25217958 |
nsv1068697 | CNV | deletion | 25765185 |
nsv1131000 | CNV | deletion | 24896259 |
nsv1143508 | CNV | deletion | 24896259 |
nsv521271 | CNV | gain | 19592680 |
nsv831868 | CNV | loss | 17160897 |
nsv947957 | CNV | duplication | 23825009 |
nsv948004 | CNV | duplication | 23825009 |
nsv950962 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sphingolipidosis |
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lipogranulomatosis |
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farber lipogranulomatosis |
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niemann-pick disease, type a |
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spinal muscular atrophy with progressive myoclonic epilepsy |
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