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... See more...
Aliases for ASAH1 Gene
Aliases for ASAH1 Gene
External Ids for ASAH1 Gene
- HGNC: 735
- Entrez Gene: 427
- Ensembl: ENSG00000104763
- OMIM: 613468
- UniProtKB: Q13510
Previous HGNC Symbols for ASAH1 Gene
- ASAH
Previous GeneCards Identifiers for ASAH1 Gene
- GC08M017790
- GC08M017976
- GC08M017924
- GC08M017958
- GC08M016458
Summaries for ASAH1 Gene
-
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]
GeneCards Summary for ASAH1 Gene
ASAH1 (N-Acylsphingosine Amidohydrolase 1) is a Protein Coding gene. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are Innate Immune System and Ceramide signaling pathway. Gene Ontology (GO) annotations related to this gene include N-acylsphingosine amidohydrolase activity. An important paralog of this gene is NAAA.
UniProtKB/Swiss-Prot Summary for ASAH1 Gene
-
Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821).
-
Isoform 2: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.
-
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).
Additional gene information for ASAH1 Gene
- Monarch Initiative
- Search for ASAH1 at DataMed
- Search for ASAH1 at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASAH1 Gene
Genomics for ASAH1 Gene
GeneHancer (GH) Regulatory Elements for ASAH1 Gene
Promoters and enhancers for ASAH1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ASAH1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ASAH1 gene promoter:
-
- ATF-2
- c-Jun
Genomic Locations for ASAH1 Gene
Genomic Locations for ASAH1 Gene
- chr8:18,055,992-18,084,998
- (GRCh38/hg38)
- Size:
- 29,007 bases
- Orientation:
- Minus strand
- chr8:17,913,925-17,942,507
- (GRCh37/hg19)
- Size:
- 28,583 bases
- Orientation:
- Minus strand
Genomic View for ASAH1 Gene
Genes around ASAH1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p22 by HGNC
- 8p22 by Entrez Gene
- 8p22 by Ensembl
ASAH1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASAH1 Gene
Proteins for ASAH1 Gene
-
Protein details for ASAH1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13510-ASAH1_HUMAN
- Recommended name:
- Acid ceramidase
- Protein Accession:
- Q13510
- E9PDS0
- Q6W898
- Q96AS2
Protein attributes for ASAH1 Gene
- Size:
- 395 amino acids
- Molecular mass:
- 44660 Da
- Quaternary structure:
-
- Heterodimer; disulfide-linked (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). The heterodimer is composed of the disulfide-linked alpha and beta chains produced by autocatalytic cleavage of the precursor (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). Isoform 2: May interact with NR5A1 in the nucleus; the direct interaction would negatively regulate NR5A1 transcriptional activity (Probable).
- SequenceCaution:
-
- Sequence=AAC73009.1; Type=Frameshift; Positions=15, 21; Evidence={ECO:0000305};
Protein Expression for ASAH1 Gene
Selected DME Specific Peptides for ASAH1 Gene
- Q13510:
-
- SGEGCVITR
- DDRRTPA
- LKVIVNS
- TINLDLPPYKRWHEL
- KLPGLLGNFPGPFEEEMKGIAAVT
- HGRNMDFG
- FLGWNINN
- VLENSTSYEE
- NGGYLGILEW
- RKESLDVYELD
- DVTKGQFE
- TSYEEAKN
Post-translational modifications for ASAH1 Gene
- N-glycosylated.
- Proteolytically cleaved into two chains alpha and beta that remain associated via a disulfide bond (PubMed:7744740, PubMed:11451951, PubMed:30525581, PubMed:29692406). Cleavage gives rise to a conformation change that activates the enzyme. The same catalytic Cys residue mediates the autoproteolytic cleavage and subsequent hydrolysis of lipid substrates (PubMed:30525581, PubMed:29692406). The beta chain may undergo an additional C-terminal processing (PubMed:12815059).
-
Glycosylation at Asn173, Asn195, Asn259, Asn286, Asn342, and Asn348
- NX_Q13510 (NX_Q13510-1)
-
Ubiquitination at Lys92
- NX_Q13510 (NX_Q13510-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- ASAH1_HUMAN (986)
Other Protein References for ASAH1 Gene
- ENSEMBL proteins:
-
- ENSP00000326970
- ENSP00000371152
- ENSP00000489901
- ENSP00000489800
- ENSP00000262097
- ENSP00000489979
- ENSP00000490195
- ENSP00000490093
- ENSP00000490798
- ENSP00000490596
- ENSP00000489914
- ENSP00000489617
- ENSP00000490837
- ENSP00000490133
- ENSP00000490132
- ENSP00000490036
- ENSP00000490738
- ENSP00000490536
- ENSP00000490437
- ENSP00000490432
- ENSP00000490388
- ENSP00000490188
- ENSP00000490485
- ENSP00000489651
- ENSP00000490322
- ENSP00000490129
- ENSP00000490027
- ENSP00000490025
- ENSP00000490725
- ENSP00000490522
- ENSP00000490423
- ENSP00000490876
- ENSP00000490270
- ENSP00000490272
- ENSP00000490071
- ENSP00000490774
- ENSP00000489988
- ENSP00000489884
- ENSP00000489789
- ENSP00000427751
- ENSP00000490112
- ENSP00000490415
- ENSP00000490562
- ENSP00000490464
- ENSP00000490801
- ENSP00000490202
- ENSP00000490700
- ENSP00000490506
- ENSP00000490502
- ENSP00000489761
- ENSP00000490753
- REFSEQ proteins:
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-
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- antibodies-online: Show 12 available ASAH1 Proteins ranked by validation data
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- antibodies-online: Show 6 available ASAH1 Elisa Kits ranked by validation data
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Domains & Families for ASAH1 Gene
Gene Families for ASAH1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for ASAH1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASAH1 Gene
- GenScript: Design optimal peptide antigens:
-
- Putative 32 kDa heart protein (ASAH1_HUMAN)
- N-acylsphingosine amidohydrolase 1 (B1B5P6_HUMAN)
- N-acylsphingosine amidohydrolase 1 (B1B5P7_HUMAN)
- N-acylsphingosine amidohydrolase 1 (B1B5Q0_HUMAN)
- N-acylsphingosine amidohydrolase 1 (B1B5Q2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13510- Family:
-
- Belongs to the acid ceramidase family.
Function for ASAH1 Gene
Molecular function for ASAH1 Gene
- UniProtKB/Swiss-Prot Function:
- Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH (PubMed:10610716, PubMed:7744740, PubMed:15655246, PubMed:11451951). Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation (PubMed:10610716). Has a higher catalytic efficiency towards C12-ceramides versus other ceramides (PubMed:7744740, PubMed:15655246). Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine (PubMed:12764132, PubMed:12815059). For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used (PubMed:12764132). Has also an N-acylethanolamine hydrolase activity (PubMed:15655246). By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes (PubMed:17713573). Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis (PubMed:22261821).
- UniProtKB/Swiss-Prot Function:
- Isoform 2: May directly regulate steroidogenesis by binding the nuclear receptor NR5A1 and negatively regulating its transcriptional activity.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine; Xref=Rhea:RHEA:20856, ChEBI:CHEBI:15377, ChEBI:CHEBI:28868, ChEBI:CHEBI:52639, ChEBI:CHEBI:57756; EC=3.5.1.23; Evidence={ECO:0000269 PubMed:10610716, ECO:0000269 PubMed:11451951, ECO:0000269 PubMed:12638942, ECO:0000269 PubMed:12815059, ECO:0000269 PubMed:15655246, ECO:0000269 PubMed:22703880, ECO:0000269 PubMed:27026573, ECO:0000269 PubMed:29692406, ECO:0000269 PubMed:7744740, ECO:0000269 PubMed:8955159};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-dodecanoylsphing-4-enine = dodecanoate + sphing-4-enine; Xref=Rhea:RHEA:41291, ChEBI:CHEBI:15377, ChEBI:CHEBI:18262, ChEBI:CHEBI:57756, ChEBI:CHEBI:72956; Evidence={ECO:0000269 PubMed:11451951, ECO:0000269 PubMed:12764132, ECO:0000269 PubMed:12815059, ECO:0000269 PubMed:15655246, ECO:0000269 PubMed:29692406, ECO:0000269 PubMed:7744740}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41292; Evidence={ECO:0000269 PubMed:7744740, ECO:0000305 PubMed:11451951, ECO:0000305 PubMed:12815059, ECO:0000305 PubMed:15655246}; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:41293; Evidence={ECO:0000269 PubMed:12764132, ECO:0000305 PubMed:12815059};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-tetradecanoylsphing-4-enine = sphing-4-enine + tetradecanoate; Xref=Rhea:RHEA:41287, ChEBI:CHEBI:15377, ChEBI:CHEBI:30807, ChEBI:CHEBI:57756, ChEBI:CHEBI:72957; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:41289; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-hexadecanoylsphing-4-enine = hexadecanoate + sphing-4-enine; Xref=Rhea:RHEA:38891, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence={ECO:0000269 PubMed:12764132, ECO:0000269 PubMed:15655246}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38892; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:38893; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-octadecanoylsphing-4-enine = octadecanoate + sphing-4-enine; Xref=Rhea:RHEA:41279, ChEBI:CHEBI:15377, ChEBI:CHEBI:25629, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000269 PubMed:12764132, ECO:0000269 PubMed:7744740}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41280; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:41281; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(dodecanoyl)-4-hydroxysphinganine = 4-hydroxysphinganine + dodecanoate; Xref=Rhea:RHEA:41303, ChEBI:CHEBI:15377, ChEBI:CHEBI:18262, ChEBI:CHEBI:64124, ChEBI:CHEBI:78001; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:41305; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(dodecanoyl)-sphinganine = dodecanoate + sphinganine; Xref=Rhea:RHEA:45448, ChEBI:CHEBI:15377, ChEBI:CHEBI:18262, ChEBI:CHEBI:57817, ChEBI:CHEBI:85261; Evidence=. ; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:45450; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(acetyl)-sphing-4-enine = acetate + sphing-4-enine; Xref=Rhea:RHEA:58484, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:46979, ChEBI:CHEBI:57756; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(hexanoyl)sphing-4-enine = hexanoate + sphing-4-enine; Xref=Rhea:RHEA:41295, ChEBI:CHEBI:15377, ChEBI:CHEBI:17120, ChEBI:CHEBI:57756, ChEBI:CHEBI:63867; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41296; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-octanoylsphing-4-enine = octanoate + sphing-4-enine; Xref=Rhea:RHEA:45092, ChEBI:CHEBI:15377, ChEBI:CHEBI:25646, ChEBI:CHEBI:45815, ChEBI:CHEBI:57756; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45093; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-(9Z-octadecenoyl)-sphing-4-enine = (9Z)-octadecenoate + sphing-4-enine; Xref=Rhea:RHEA:41299, ChEBI:CHEBI:15377, ChEBI:CHEBI:30823, ChEBI:CHEBI:57756, ChEBI:CHEBI:77996; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41300; Evidence=. ;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + N-dodecanoylethanolamine = dodecanoate + ethanolamine; Xref=Rhea:RHEA:45456, ChEBI:CHEBI:15377, ChEBI:CHEBI:18262, ChEBI:CHEBI:57603, ChEBI:CHEBI:85263; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45457; Evidence=. ;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by Ca(2+), Mg(2+) and Na(+) cations (PubMed:12764132). Inhibited by Zn(2+) (PubMed:12764132). Phosphatidylserine and phosphatidic acid stimulate while cardiolipin, phosphatidylcholine, lysophosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and sphingomyelin inhibit the reverse ceramide synthase activity (PubMed:12764132). Phosphatidic acid, phosphatidylinositol and C16-ceramide inhibit the ceramidase/hydrolase activity (PubMed:12764132).
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=149 uM for N-dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 4.2) {ECO:0000269 PubMed:7744740}; KM=389 uM for N-dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 4.5) {ECO:0000269 PubMed:12815059}; KM=24 uM for sphingosine (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:12764132}; KM=74 uM for dodecanoate (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:12764132}; KM=55 uM for N-dodecanoylethanolamine (at 37 degrees Celsius and pH 4.5) {ECO:0000269 PubMed:15655246}; Vmax=136 nmol/h/mg enzyme for the hydrolysis of N- dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 4.2) {ECO:0000269 PubMed:7744740}; Vmax=28 nmol/h/mg enzyme for the hydrolysis of N- dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 4.5) {ECO:0000269 PubMed:12815059}; Vmax=208 pmol/h/ug enzyme toward sphingosine for the synthesis of N-dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:12764132}; Vmax=233 pmol/h/ug enzyme toward dodecanoate for the synthesis of N-dodecanoylsphing-4-enine (at 37 degrees Celsius and pH 6.0) {ECO:0000269 PubMed:12764132}; pH dependence: Optimum pH is 3.8-5.0 for the hydrolysis of N-dodecanoylsphing- 4-enine (PubMed:7744740, PubMed:12815059). Optimum pH is 5.5-6.5 for the synthesis of N-dodecanoylsphing-4-enine (PubMed:12815059). {ECO:0000269 PubMed:12815059, ECO:0000269 PubMed:7744740};
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by Ca(2+).
Enzyme Numbers (IUBMB) for ASAH1 Gene
Phenotypes From GWAS Catalog for ASAH1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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:0017040 | N-acylsphingosine amidohydrolase activity | IMP | 10610716 |
| GO:0102121 | ceramidase activity | IEA | -- |
Phenotypes for ASAH1 Gene
- MGI mutant phenotypes for ASAH1:
-
inferred from 3 alleles
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for ASAH1:
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-
- MG206162
- MR206162
- MR206162L3
- MR206162L3V
- MR206162L4
- MR206162L4V
- RC202135
- RC202135L1
- RC202135L1V
- RC202135L2
- RC202135L2V
- RC202135L3
- RC202135L3V
- RC202135L4
- RC202135L4V
- RC212434
- RC212434L1
- RC212434L1V
- RC212434L2
- RC212434L2V
- RC212434L3
- RC212434L3V
- RC212434L4
- RC212434L4V
- RC225593
- RC225593L1
- RC225593L1V
- RC225593L2
- RC225593L2V
- RC225593L3
- RC225593L3V
- RC225593L4
- RC225593L4V
- RG202135
- RG212434
- RG225593
- RR215418
- RR215418L3
- RR215418L3V
- RR215418L4
- RR215418L4V
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No data available for Transcription Factor Targets and HOMER Transcription for ASAH1 Gene
Localization for ASAH1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ASAH1 Gene
- Lysosome. Secreted. Note=Secretion is extremely low and localization to lysosomes is mannose-6-phosphate receptor-dependent. {ECO:0000269 PubMed:11451951}.
- Isoform 2: Nucleus. Cytoplasm. Note=A localization to the nucleus and the cytoplasm has also been reported for ASAH1, most probably for isoforms devoid of a signal peptide. {ECO:0000305 PubMed:22927646}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| lysosome | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| peroxisome | 0 |
| 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 | IDA | 12764132 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASAH1 Gene
Pathways & Interactions for ASAH1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Lysosome |
-
|
|
| 5 | Sphingolipid signaling pathway | ||
Pathways by source for ASAH1 Gene
4 BioSystems pathways for ASAH1 Gene
7 Reactome pathways for ASAH1 Gene
4 KEGG pathways for ASAH1 Gene
1 Qiagen pathway for ASAH1 Gene
- S-1P Stimulated Signaling
UniProtKB/Swiss-Prot Q13510-ASAH1_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for ASAH1 Gene
Selected Interacting proteins:
Q13510-ASAH1_HUMAN
ENSP00000371152
for ASAH1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for ASAH1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
| GO:0030216 | keratinocyte differentiation | IMP | 17713573 |
| GO:0043312 | neutrophil degranulation | TAS | -- |
No data available for SIGNOR curated interactions for ASAH1 Gene
Drugs & Compounds for ASAH1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Palmitic Acid | Approved | Pharma | Full agonist, Agonist | 25 | ||
| Stearic acid | Approved, Experimental | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| Sphingosine | Experimental | Pharma | 0 | |||
| arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 38 |
| 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)) |
|
|
(1) Tocris Compounds for ASAH1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ceranib 1 | Ceramidase inhibitor; antiproliferative | 328076-61-5 |
(1) ApexBio Compounds for ASAH1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ceranib 1 | 328076-61-5 |
Transcripts for ASAH1 Gene
mRNA/cDNA for ASAH1 Gene
- (4) REFSEQ mRNAs :
- (19) Additional mRNA sequences :
- (772) Selected AceView cDNA sequences:
- (69) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000637790 2779 bps (ENST00000637790.1)
- ENST00000636009 2148 bps (ENST00000636009.1)
- ENST00000520781 2245 bps (ENST00000520781.6)
- ENST00000381733 2512 bps (ENST00000381733.9)
- ENST00000637752 2708 bps (ENST00000637752.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH1 - Select products 50% OFF >
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OriGene CRISPR knockouts for ASAH1
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH1
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available ASAH1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for ASAH1 - Select products 50% OFF >
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- MG206162
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- genomics-online: cdna clones - Search results for available ASAH1 gene related products
- orf clones - Search results for available ASAH1 gene related products
| 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: | |||||||||||||
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| SP11: | |||||||||||||
| SP12: |
Expression for ASAH1 Gene
mRNA differential expression in normal tissues according to GTEx for ASAH1 Gene
This gene is overexpressed in Whole Blood (x4.7) and Heart - Left Ventricle (x4.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASAH1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ASAH1 Gene:
ASAH1SOURCE GeneReport for Unigene cluster for ASAH1 Gene:
Hs.527412mRNA Expression by UniProt/SwissProt for ASAH1 Gene:
Q13510-ASAH1_HUMAN
Tissue specificity:
Broadly expressed with higher expression in heart.
Evidence on tissue expression from TISSUES for ASAH1 Gene
- Nervous system(5)
- Blood(4.8)
- Skin(4.7)
- Liver(4.6)
- Bone marrow(4.4)
- Stomach(4.4)
- Kidney(4)
- Urine(4)
- Lung(3.9)
- Heart(3.4)
- Muscle(3)
- Spleen(2.9)
- Intestine(2.5)
- Thyroid gland(2.5)
- Adrenal gland(2.2)
- Pancreas(2.1)
- Gall bladder(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAH1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- epiglottis
- eye
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- skull
- tongue
- vocal cord
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- liver
- spleen
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ASAH1
-
OriGene qPCR primer pairs and template standards for ASAH1
- genomics-online: primer clones - Search results for available ASAH1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for ASAH1 Gene
Orthologs for ASAH1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASAH1 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ASAH1 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ASAH1 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Asah1 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Asah1 17 33 32 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | ASAH1 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ASAH1 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ASAH1 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | asah1 32 |
|
||
| Str.5508 32 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22164 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | asah1b 33 32 |
|
OneToMany | |
| asah1a 33 |
|
OneToMany | |||
| zgc66026 32 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9300 32 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | asah-1 33 32 |
|
OneToMany | |
| F27E5.1 33 |
|
OneToMany |
- Species where no ortholog for ASAH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for ASAH1 Gene
- ENSEMBL:
- Gene Tree for ASAH1 (if available)
- TreeFam:
- Gene Tree for ASAH1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ASAH1: view image
Paralogs for ASAH1 Gene
(1) SIMAP similar genes for ASAH1 Gene using alignment to 19 proteins:
- ASAH1_HUMAN
- B1B5P6_HUMAN
- B1B5P7_HUMAN
- B1B5Q0_HUMAN
- B1B5Q2_HUMAN
- B1B5Q3_HUMAN
- B1B5Q8_HUMAN
- B1B5Q9_HUMAN
- B1B5R8_HUMAN
- B1B5R9_HUMAN
- B1B5S5_HUMAN
- B1B5S6_HUMAN
- B1B5S7_HUMAN
- B1B5S8_HUMAN
- B1B5T0_HUMAN
- B1B5T7_HUMAN
- D3DSQ1_HUMAN
- E7EMM4_HUMAN
- E7ERV9_HUMAN
Variants for ASAH1 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10103355 | benign, not specified, Farber disease, not provided, -, - | 18,061,425(-) | A/G | coding_sequence_variant, missense_variant | |
| rs1049874 | benign, not specified, Farber disease, not provided, - | 18,069,818(-) | T/C | coding_sequence_variant, intron_variant, missense_variant | |
| rs1071645 | benign, not specified, Farber disease, not provided, -, - | 18,071,302(-) | C/T | coding_sequence_variant, missense_variant | |
| rs115127411 | likely-benign, Farber disease | 18,057,200(-) | C/A/T | 3_prime_UTR_variant | |
| rs12547845 | benign, not specified, not provided | 18,071,411(-) | T/C | intron_variant |
| 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 |
Residual Variation Intolerance Score:
97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.44;
64.03% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ASAH1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH1 Gene
Disorders for ASAH1 Gene
(13) MalaCards diseases for ASAH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| farber lipogranulomatosis |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
| jankovic rivera syndrome |
|
|
| keloid formation |
|
|
| benign epilepsy with centrotemporal spikes |
|
|
Search ASAH1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ASAH1_HUMAN- Farber lipogranulomatosis (FRBRL) [MIM:228000]: An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. {ECO:0000269 PubMed:10610716, ECO:0000269 PubMed:10993717, ECO:0000269 PubMed:11241842, ECO:0000269 PubMed:12638942, ECO:0000269 PubMed:16951918, ECO:0000269 PubMed:20609603, ECO:0000269 PubMed:21893389, ECO:0000269 PubMed:21982811, ECO:0000269 PubMed:26945816, ECO:0000269 PubMed:27411168, ECO:0000269 PubMed:8955159}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. {ECO:0000269 PubMed:22703880, ECO:0000269 PubMed:24164096, ECO:0000269 PubMed:27026573}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ASAH1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ASAH1 Gene
Publications for ASAH1 Gene
- The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. (PMID: 10610716) Li CM … Schuchman EH (Genomics 1999) 2 3 4 23 56
- Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. (PMID: 8955159) Koch J … Sandhoff K (The Journal of biological chemistry 1996) 2 3 4 23 56
- Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes. (PMID: 17713573) Sun W … Mao C (The Journal of investigative dermatology 2008) 3 4 23 56
- Structural basis for the activation of acid ceramidase. (PMID: 29692406) Gebai A … Nagar B (Nature communications 2018) 3 4 56
- Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. (PMID: 27411168) Kim SY … Chae JH (American journal of medical genetics. Part A 2016) 3 4 56
ExternalLinks
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- MG206162
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- Biorbyt antibodies for ASAH1
Sources for ASAH1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
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- (40) dbSNP
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- (44) BGMUT
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- (46) Atlas
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- (65) Qiagen
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- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
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- (107) diseasecard
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- (125) ENCODE
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- (127) Horizon
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- (130) VectorBuilder
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- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
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- (155) miR2Disease
- (156) DiseaseEnhancer
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- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource