Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
ASAH1 (N-Acylsphingosine Amidohydrolase 1) is a Protein Coding gene. Diseases associated with ASAH1 include Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy and Farber Lipogranulomatosis. Among its related pathways are Innate Immune System and S-1P Stimulated Signaling. Gene Ontology (GO) annotations related to this gene include N-acylsphingosine amidohydrolase activity. An important paralog of this gene is NAAA.
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:0003714 | transcription corepressor activity | IMP | -- |
GO:0005515 | protein binding | IPI | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0016810 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | IBA | 21873635 |
GO:0016811 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | IDA | 15655246 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 7744740 |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005764 | lysosome | IEA,IDA | 12764132 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
.40
|
|
3 | Innate Immune System |
.61
|
|
4 | Lysosome |
-
|
|
5 | Sphingolipid signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
GO:0030216 | keratinocyte differentiation | IMP | 17713573 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Compound | Action | Cas Number |
---|---|---|
Ceranib 1 | Ceramidase inhibitor; antiproliferative | 328076-61-5 |
Compound | Action | Cas Number |
---|---|---|
Ceranib 1 | 328076-61-5 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASAH1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASAH1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASAH1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Asah1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Asah1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | ASAH1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASAH1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ASAH1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | asah1 30 |
|
||
Str.5508 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.22164 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | asah1b 30 31 |
|
OneToMany | |
asah1a 31 |
|
OneToMany | |||
zgc66026 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9300 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | asah-1 30 31 |
|
OneToMany | |
F27E5.1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
873542 | Likely Pathogenic: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 18,075,548(-) |
C/G NM_177924.5(ASAH1):c.118G>C (p.Gly40Arg) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
908422 | Uncertain Significance: Farber disease | 18,056,917(-) |
A/T NM_177924.5(ASAH1):c.*617T>A |
THREE_PRIME_UTR | |
908423 | Uncertain Significance: Farber disease | 18,057,075(-) |
A/G NM_177924.5(ASAH1):c.*459T>C |
THREE_PRIME_UTR | |
908424 | Uncertain Significance: Farber disease | 18,057,161(-) |
G/A NM_177924.5(ASAH1):c.*373C>T |
THREE_PRIME_UTR | |
908493 | Uncertain Significance: Farber disease | 18,059,415(-) |
G/A NM_177924.5(ASAH1):c.967C>T (p.Arg323Cys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2055e212 | CNV | loss | 25503493 |
esv3616511 | CNV | gain | 21293372 |
esv3891365 | CNV | gain | 25118596 |
nsv1026366 | CNV | gain | 25217958 |
nsv1115070 | CNV | deletion | 24896259 |
nsv522647 | CNV | loss | 19592680 |
nsv610713 | CNV | loss | 21841781 |
nsv820215 | CNV | loss | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
farber lipogranulomatosis |
|
|
asah1-related disorders |
|
|
keloid formation |
|
|
keloid disorder |
|