ASAH1 - N-acylsphingosine amidohydrolase 1 Gene
Also Known as AC; PHP; ASAH; PHP32; ACDase; SMAPME
Species: Homo sapiens
About ASAH1
This gene has 68 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues.
Summary
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 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127505.3 | NP_001120977.1 | acid ceramidase isoform c |
| NM_001363743.2 | NP_001350672.1 | acid ceramidase isoform d |
| NM_004315.6 | NP_004306.3 | acid ceramidase isoform b |
| NM_177924.5 | NP_808592.2 | acid ceramidase isoform a preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables N-acylsphingosine amidohydrolase activity |
IDA
IDA: Inferred from direct assay
|
7744740 | GOA |
| enables N-acylsphingosine amidohydrolase activity |
IMP
IMP: Inferred from mutant phenotype
|
10610716 | GOA |
| enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides |
IDA
IDA: Inferred from direct assay
|
15655246 | GOA |
| enables nuclear receptor binding |
IPI
IPI: Inferred from physical interaction
|
22927646 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
22927646 | GOA |
| enables transcription corepressor activity |
IMP
IMP: Inferred from mutant phenotype
|
22927646 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in ceramide biosynthetic process |
IDA
IDA: Inferred from direct assay
|
12764132 | GOA |
| involved in ceramide catabolic process |
IDA
IDA: Inferred from direct assay
|
12815059 | GOA |
| involved in ceramide catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
10610716 | GOA |
| involved in keratinocyte differentiation |
IMP
IMP: Inferred from mutant phenotype
|
17713573 | GOA |
| involved in regulation of steroid biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
22261821 | GOA |
| involved in sphingosine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
12815059 | GOA |
| involved in sphingosine biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
10610716 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| NOT located in early endosome |
IDA
IDA: Inferred from direct assay
|
12764132 | GOA |
| NOT located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
12764132 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
7744740 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
12764132 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
22927646 | GOA |
ASAH1 Protein Structure
NAAA-beta: beta subunit of N-acylethanolamine-hydrolyzing acid amidase (46 - 139)
CBAH: Linear amide C-N hydrolases, choloylglycine hydrolase family (143 - 384)
- 0
- 100
- 200
- 300
- 395 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
acid ceramidase |
|
ASAH1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
ASAH1 | Q13510 | NR5A1 | Homo sapiens | Q13285 | 22927646 |
Recombinant ASAH1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71541 | ASAH1 Protein, Human (His-SUMO) | Q13510 (Q22-W395) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Farber Lipogranulomatosis |
|
|
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
|
| Asah1-Related Disorders |
|
|
| Keloid Formation |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Lipogranulomatosis |
|
|
| Spinal Muscular Atrophy |
|
|
| Muscular Atrophy |
|
|
| Fetal Akinesia Deformation Sequence 1 |
|
|
| Distal Arthrogryposis |
|
|
| Nervous System Disease |
|
|
| Epilepsy |
|
|
| Gaucher Disease, Type Iiic |
|
|
| Gaucher Disease, Type Iii |
|
|
| Congenital Nervous System Abnormality |
|
|
| Krabbe Disease |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2v |
|
|
| Gaucher Disease, Perinatal Lethal |
|
|
| Gaucher Disease, Type I |
|
|
| Sandhoff Disease |
|
|
| Kanzaki Disease |
|
|
| Malignant Pineal Area Germ Cell Neoplasm |
|
|
| Sphingolipidosis |
|
|
| Gm2 Gangliosidosis |
|
|
| Niemann-Pick Disease, Type A |
|
|
| Cerebral Arteritis |
|
|
| Schindler Disease |
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Intracranial Berry Aneurysm |
|
|
| Metachromatic Leukodystrophy |
|
|
| Gaucher'S Disease |
|
|
| Niemann-Pick Disease |
|
|
| Gangliosidosis |
|
|
| Progressive Myoclonus Epilepsy 4 |
|
|
| Tay-Sachs Disease |
|
|
| Nephrotic Syndrome, Type 14 |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | ASAH1 | VGNC | VGNC:68326 |
| Macaca mulatta | ASAH1 | VGNC | VGNC:70028 |
| Mus musculus | ASAH1 | MGD | MGI:1277124 |
| Canis familiaris | ASAH1 | VGNC | VGNC:38152 |
| Rattus norvegicus | ASAH1 | RGD | RGD:621568 |
| Bos taurus | ASAH1 | VGNC | VGNC:26183 |
| Others | ASAH1 | NCBI |