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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 Lysosome and Sphingolipid 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
- HGNC(735)
- Entrez Gene(427)
- Ensembl(ENSG00000104763)
- OMIM(613468)
- UniProtKB(Q13510)
- Open Targets Platform(ENSG00000104763)
- 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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASAH1
- 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; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: Mutagenesis in position: 25:L->A (Loss of interaction with NR5A1).
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:
-
- ENSP00000490272
- ENSP00000489988
- ENSP00000427751
- ENSP00000371152
- ENSP00000489901
- ENSP00000490725
- ENSP00000490801
- ENSP00000490071
- ENSP00000489761
- ENSP00000489800
- ENSP00000490562
- ENSP00000489651
- ENSP00000490188
- ENSP00000490322
- ENSP00000490027
- ENSP00000490415
- ENSP00000490388
- ENSP00000490112
- ENSP00000490522
- ENSP00000490596
- ENSP00000490837
- ENSP00000489789
- ENSP00000490195
- ENSP00000490506
- ENSP00000490437
- ENSP00000489617
- ENSP00000490093
- ENSP00000490270
- ENSP00000490502
- ENSP00000326970
- ENSP00000490036
- ENSP00000490133
- ENSP00000490202
- ENSP00000489979
- ENSP00000490700
- ENSP00000490798
- ENSP00000490485
- ENSP00000490774
- ENSP00000490129
- ENSP00000490876
- ENSP00000490753
- ENSP00000490536
- ENSP00000489914
- ENSP00000490432
- ENSP00000489884
- ENSP00000490738
- ENSP00000490423
- ENSP00000490464
- ENSP00000490025
- ENSP00000490132
- ENSP00000262097
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ASAH1 Antibody
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- Novus Biologicals Antibodies for ASAH1
-
Abcam antibodies for ASAH1
- Invitrogen Antibodies for ASAH1 (AFLGC-ASAH1)
-
Biorbyt antibodies for ASAH1
-
Custom Antibody ServicesProSci Antibodies for ASAH1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASAH1
Protein Products
-
OriGene Purified Proteins for ASAH1
- Search Origene for MassSpec and Protein Over-expression Lysates for ASAH1
- Origene Custom Protein Services for ASAH1
- antibodies-online: Show 12 available ASAH1 Proteins ranked by validation data
- Compare Top ASAH1 Proteins
-
Quality Products:
-
Abcam proteins for ASAH1
Assay Products
- RayBiotech Custom Human Phosphotyrosine ALK ELISA
- antibodies-online: Show 6 available ASAH1 Elisa Kits ranked by validation data
- Compare Top ASAH1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for ASAH1
Domains & Families for ASAH1 Gene
Gene Families for ASAH1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for ASAH1 Gene
- InterPro:
- Blocks:
-
- Choloylglycine hydrolase
- 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};.
- 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={ECO:0000269|PubMed:12764132};.
- 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};.
- 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};.
- 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={ECO:0000269|PubMed:12764132};.
- 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={ECO:0000269|PubMed:12764132};.
- 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={ECO:0000269|PubMed:7744740};.
- 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={ECO:0000269|PubMed:7744740};.
- 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={ECO:0000269|PubMed:7744740};.
- 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={ECO:0000269|PubMed:7744740};.
- 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={ECO:0000269|PubMed:15655246};.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by Ca(2+).
- 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 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).
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 | IBA,IMP | 10610716 |
| GO:0102121 | ceramidase activity | IEA | -- |
Phenotypes for ASAH1 Gene
- MGI mutant phenotypes for ASAH1:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- hematopoietic system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for ASAH1:
Animal Model Products
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CRISPR Products
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-
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH1
miRNA for ASAH1 Gene
- miRTarBase miRNAs that target ASAH1
miRNA Products
Inhibitory RNA Products
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-
- MG206162
- MR206162
- MR206162L3
- MR206162L4
- RC202135
- RC202135L1
- RC202135L2
- RC202135L3
- RC202135L4
- RC212434
- RC212434L1
- RC212434L2
- RC212434L3
- RC212434L4
- RC225593
- RC225593L1
- RC225593L2
- RC225593L3
- RC225593L4
- RG202135
- RG212434
- RG225593
- RR215418
- RR215418L3
- RR215418L4
- MR206162L3V
- MR206162L4V
- RC202135L1V
- RC202135L2V
- RC202135L3V
- RC202135L4V
- RC212434L1V
- RC212434L2V
- RC212434L3V
- RC212434L4V
- RC225593L1V
- RC225593L2V
- RC225593L3V
- RC225593L4V
- RR215418L3V
- RR215418L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Horizon Cell Lines for ASAH1
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 | 3 |
| plasma membrane | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| 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 | 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 | |
|---|---|---|---|---|---|---|
| 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 NCBI additional mRNA sequence :
- 69 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000637790 2779 nts (view in UCSC)
- ENST00000636009 2148 nts (view in UCSC)
- ENST00000520781 2245 nts (view in UCSC)
- ENST00000381733 2512 nts (view in UCSC)
- ENST00000637752 2708 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH1 - Select products 50% OFF >
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-
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miRNA Products
Inhibitory RNA Products
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Clone Products
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| 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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | |||||||||||||
| SP3: | |||||||||||||
| SP4: | |||||||||||||
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| SP12: |
Relevant External Links for ASAH1 Gene
- GeneLoc Exon Structure for
- ASAH1
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAH1
SOURCE 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(4.7)
- Bone marrow(4.6)
- Stomach(4.5)
- Kidney(4.3)
- Urine(4.2)
- Lung(4)
- Heart(3.6)
- Spleen(3.5)
- Muscle(3.4)
- Intestine(3.1)
- Thyroid gland(2.9)
- Pancreas(2.8)
- Lymph node(2.7)
- Adrenal gland(2.6)
- Eye(2.6)
- 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
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 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 |
- Species where no ortholog for ASAH1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASAH1 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638370 | Uncertain Significance: Farber disease | 18,062,335(-) | C/T | MISSENSE_VARIANT | |
| 662497 | Pathogenic/Likely Pathogenic: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; not provided | 18,075,540(-) | C/T | SPLICE_DONOR_VARIANT | |
| 672022 | Benign: not provided | 18,073,582(-) | C/T | INTRON_VARIANT | |
| 672673 | Benign: not provided | 18,067,100(-) | T/TGCACCTGTGCTGT | INTRON_VARIANT | |
| 678021 | Benign: not provided | 18,073,490(-) | A/G | 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
(21) MalaCards diseases for ASAH1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| farber lipogranulomatosis |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
| keloid formation |
|
|
| lipogranulomatosis |
|
|
| muscular atrophy |
|
|
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
- Open Targets Platform
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
- 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
- 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
- Structural basis for the activation of acid ceramidase. (PMID: 29692406) Gebai A … Nagar B (Nature communications 2018) 3 4
- Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. (PMID: 26945816) Bonafé L … Superti-Furga A (Arthritis & rheumatology (Hoboken, N.J.) 2016) 3 4
ExternalLinks
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- antibodies-online: Show 13 available ASAH1 Antibodies ranked by validation data
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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) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
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