Protein Summary
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. 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]
- ENST00000262097
- ENSP00000262097
- ENSG00000104763
- ENST00000314146
- ENSP00000326970
- ENST00000381733
- ENSP00000371152
- ENST00000635998
- ENSP00000490506
- ENST00000637790
- ENSP00000490272
- ASAH
- AC
- PHP
- ASAH
- PHP32
- ACDase
- SMAPME
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
disease perturbation | 1 | ||
interacting protein | 0.98 | ||
transcription factor perturbation | 0.98 | ||
kinase perturbation | 0.97 | ||
transcription factor binding site profile | 0.88 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 288.96 (req: < 5)
Gene RIFs: 52 (req: <= 3)
Antibodies: 271 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 288.96 (req: >= 5)
Gene RIFs: 52 (req: > 3)
Antibodies: 271 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 106
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 1
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (1)
Active Ligands (106)
Protein-Protein Interactions (150)
AAMP
Novelty: 0.0160792
p_int: 0.999340787
p_ni: 0.000638277
p_wrong: 0.000020936
Score: 0.193
Data Source: BioPlex,STRINGDB
CYP1A2
Novelty: 0.00034756
p_int: 0.999328011
p_ni: 0.000671989
Score: 0.198
Data Source: BioPlex,STRINGDB
GLT1D1
Family: Enzyme
Novelty: 0.33685691
p_int: 0.98147062
p_ni: 0.01852938
Score: 0.237
Data Source: BioPlex,STRINGDB
OSTM1
Novelty: 0.03033192
p_int: 0.970874316
p_ni: 0.029125664
p_wrong: 2e-8
Data Source: BioPlex
ZSCAN12
Family: TF
Novelty: 0.33578207
p_int: 0.939076972
p_ni: 0.060923028
Data Source: BioPlex
FTH1
Novelty: 0.000863
p_int: 0.923362534
p_ni: 0.076634272
p_wrong: 0.000003194
Score: 0.912
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets (2)
Upstream (1)
Downstream (1)
1 – 1 of 1
Pathways (111)
Reactome (7)
KEGG (4)
PathwayCommons (2)
WikiPathways (98)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Glycosphingolipid metabolism | ||||
Reactome | Immune System | ||||
Reactome | Innate Immune System | ||||
Reactome | Metabolism | ||||
Reactome | Metabolism of lipids | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Glycosphingolipid metabolism | ||||
Immune System | ||||
Innate Immune System | ||||
Metabolism | ||||
Metabolism of lipids | ||||
Viral Interactions (0)
Gene Ontology Terms (13)
Functions (4)
Components (6)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Traceable Author Statement (TAS) | ProtInc | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-EC | |||
Disease Associations (null)
GWAS Traits (5)
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
3 | 1 | 0 | 1.1 | 73.9 | |||||
triglyceride measurement | 1 | 1 | 1 | 38.8 | |||||
1 | 1 | 0 | 1.1 | 33.1 | |||||
mean reticulocyte volume | 1 | 1 | 1 | 31.4 | |||||
self reported educational attainment | 1 | 1 | 1 | 24.5 | |||||
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
0 | 1.1 | 73.9 | |||||
triglyceride measurement | 1 | 38.8 | |||||
0 | 1.1 | 33.1 | |||||
mean reticulocyte volume | 1 | 31.4 | |||||
self reported educational attainment | 1 | 24.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (14)
1 – 5 of 14
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | N-acylsphingosine amidohydrolase 1 | VGNC:53738 | 464022 | |||||
Macaque | N-acylsphingosine amidohydrolase 1 | 703699 | ||||||
Mouse | MGI:1277124 | 11886 | ||||||
Rat | RGD:621568 | 84431 | ||||||
Dog | N-acylsphingosine amidohydrolase 1 | VGNC:38152 | 482897 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | N-acylsphingosine amidohydrolase 1 | |||||
Macaque | N-acylsphingosine amidohydrolase 1 | |||||
Mouse | ||||||
Rat | ||||||
Dog | N-acylsphingosine amidohydrolase 1 | |||||
Publication Statistics
PubMed Score 288.96
PubMed score by year
PubTator Score 168.93
PubTator score by year
Related Publications
Text Mined References (78)
GeneRif Annotations (52)
Items per page:
0 of 0
PMID | Year | Title |
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