ASAH1 Gene (Protein Coding)

N-Acylsphingosine Amidohydrolase 1

GC08M018055
GIFtS:
47
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

  • N-Acylsphingosine Amidohydrolase 1 2 3 5
  • Acylsphingosine Deacylase 2 3 4
  • Acid Ceramidase 2 3 4
  • ACDase 2 3 4
  • PHP32 2 3 4
  • AC 2 3 4
  • N-Acylethanolamine Hydrolase ASAH1 3 4
  • Putative 32 KDa Heart Protein 3 4
  • EC 3.5.1.23 4 50
  • Acid CDase 3 4
  • ASAH 3 4
  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 3
  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 2
  • N-Acylsphingosine Amidohydrolase 4
  • EC 3.5.1.- 4
  • FLJ21558 2
  • SMAPME 3
  • ASAH1 5
  • PHP 3

External Ids for ASAH1 Gene

Previous HGNC Symbols for ASAH1 Gene

  • ASAH

Previous GeneCards Identifiers for ASAH1 Gene

  • GC08M017790
  • GC08M017976
  • GC08M017924
  • GC08M017958
  • GC08M016458

Summaries for ASAH1 Gene

Entrez Gene Summary 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 Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy and Farber Lipogranulomatosis. Among its related pathways are Sphingolipid metabolism and Lysosome. 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.

Tocris Summary for ASAH1 Gene

  • 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).

Gene Wiki entry for ASAH1 Gene

Additional gene information for ASAH1 Gene

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

Download GeneHancer 2017 data
Promoters and enhancers for ASAH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J018081 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 269.8 +1.5 1516 5.4 BCLAF1 SP1 NCOR1 MYC IKZF1 SIX5 JUND ZNF580 ZNF592 ATF2 ASAH1 LOC101929066 lnc-FGL1-2 CNOT7 MTUS1 HSALNG0063698 PCM1
GH08J018067 Enhancer 1.2 Ensembl ENCODE dbSUPER 34.8 +16.7 16714 3 MYC NCOR1 IKZF1 ZNF592 NFIC HES1 BHLHE40 MBD2 ARNT NBN ASAH1 MTUS1 MTMR7 MTUS1-DT LOC101929066 lnc-FGL1-2 HSALNG0063698 PCM1
GH08J017921 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +159.6 159576 8.1 BCLAF1 SP1 NCOR1 ZNF207 ZNF600 IKZF1 MYC SIX5 ZNF580 ATF2 PCM1 MTUS1-DT MTUS1 ENSG00000249258 ENSG00000253384 CNOT7 ASAH1 FGL1 SLC7A2 HSALNG0063692-001
GH08J018053 Enhancer 0.6 dbSUPER 36.6 +30.5 30469 2.8 NCOR1 TAL1 HDAC2 TCF12 MTA2 TEAD4 DPF2 ARID1B CEBPB CBFA2T2 ASAH1 MTUS1-DT LOC101929066 PCM1 HSALNG0063698
GH08J018070 Enhancer 0.6 ENCODE dbSUPER 34.5 +12.8 12845 2.9 IKZF1 NFIC RFX1 ASAH1 MTUS1-DT LOC101929066 lnc-FGL1-2 HSALNG0063698 PCM1
- 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

Latest Assembly
chr8:18,055,992-18,084,998
(GRCh38/hg38)
Size:
29,007 bases
Orientation:
Minus strand

Previous Assembly
chr8:17,913,501-17,942,470
(GRCh37/hg19 by Entrez Gene)
Size:
28,970 bases
Orientation:
Minus strand

chr8:17,913,934-17,942,494
(GRCh37/hg19 by Ensembl)
Size:
28,561 bases
Orientation:
Minus strand

Genomic View for ASAH1 Gene

Genes around ASAH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASAH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASAH1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASAH1 Gene

Proteins for ASAH1 Gene

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  • Protein details for ASAH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13510-ASAH1_HUMAN
    Recommended name:
    Acid ceramidase
    Protein Accession:
    Q13510
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for ASAH1 Gene

    Alternative splice isoforms for ASAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH1 Gene

Protein Expression for ASAH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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
  • Ubiquitination at Lys92
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ASAH1_HUMAN (986)

Other Protein References for ASAH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

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

UniProtKB/Swiss-Prot:

ASAH1_HUMAN :
  • Belongs to the acid ceramidase family.
Family:
  • Belongs to the acid ceramidase family.
genes like me logo Genes that share domains with ASAH1: view

Function for ASAH1 Gene

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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-(4R)-hydroxysphinganine = (4R)-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

Gene Ontology (GO) - Molecular Function for ASAH1 Gene

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
genes like me logo Genes that share ontologies with ASAH1: view
genes like me logo Genes that share phenotypes with ASAH1: view

Human Phenotype Ontology for ASAH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASAH1 Gene

MGI Knock Outs for ASAH1:

Animal Models for research

miRNA for ASAH1 Gene

miRTarBase miRNAs that target ASAH1

Inhibitory RNAs for research

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Clone products for research

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASAH1 gene
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

Gene Ontology (GO) - Cellular Components for ASAH1 Gene

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
genes like me logo Genes that share ontologies with ASAH1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASAH1 Gene

Pathways & Interactions for ASAH1 Gene

genes like me logo Genes that share pathways with ASAH1: view

UniProtKB/Swiss-Prot Q13510-ASAH1_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for ASAH1 Gene

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
genes like me logo Genes that share ontologies with ASAH1: view

No data available for SIGNOR curated interactions for ASAH1 Gene

Drugs & Compounds for ASAH1 Gene

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(12) Drugs for ASAH1 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palmitic Acid Approved Pharma 27
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Sphingosine Experimental Pharma 0
arachidonic acid Experimental Pharma 41

(111) Additional Compounds for ASAH1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3-O-Sulphogalactosylceramide (D18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide

(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
genes like me logo Genes that share compounds with ASAH1: view

Drug products for research

Transcripts for ASAH1 Gene

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  3. Inhibitory RNAs for research
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mRNA/cDNA for ASAH1 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
68 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASAH1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for ASAH1 Gene

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:

Relevant External Links for ASAH1 Gene

GeneLoc Exon Structure for
ASAH1

Expression for ASAH1 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASAH1 Gene

mRNA expression in normal human tissues for ASAH1 Gene
mRNA expression by BioGPS for ASAH1 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for ASAH1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASAH1

SOURCE GeneReport for Unigene cluster for ASAH1 Gene:

Hs.527412

mRNA 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(4.5)
  • Stomach(4.5)
  • Urine(4.2)
  • Kidney(4.2)
  • Lung(4)
  • Heart(3.6)
  • Spleen(3.5)
  • Muscle(3.3)
  • Intestine(3)
  • Thyroid gland(2.8)
  • Pancreas(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.5)
  • Eye(2.5)
  • 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
genes like me logo Genes that share expression patterns with ASAH1: view

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.

Orthologs for ASAH1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ASAH1 29 30
  • 99.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASAH1 29 30
  • 89.25 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ASAH1 29 30
  • 87.43 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Asah1 29
  • 84.34 (n)
Mouse
(Mus musculus)
 Mammalia Asah1 29 16 30
  • 84.08 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 75 (a)
 OneToMany
-- 30
  • 59 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia ASAH1 30
  • 70 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ASAH1 29 30
  • 68.47 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASAH1 30
  • 60 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia asah1 29
  • 65.87 (n)
Str.5508 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.22164 29
Zebrafish
(Danio rerio)
 Actinopterygii asah1b 29 30
  • 63.32 (n)
 OneToMany
asah1a 30
  • 58 (a)
 OneToMany
zgc66026 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9300 29
Worm
(Caenorhabditis elegans)
 Secernentea asah-1 29 30
  • 49.73 (n)
 OneToMany
F27E5.1 30
  • 32 (a)
 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
Alliance of Genome Resources:
Additional Orthologs for ASAH1

Paralogs for ASAH1 Gene

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
genes like me logo Genes that share paralogs with ASAH1: view

Variants for ASAH1 Gene

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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
1012591 Likely Benign: not provided 18,071,294(-) G/C
NM_177924.5(ASAH1):c.216+6C>G 		INTRON
1017108 Uncertain Significance: not provided 18,064,452(-) A/G
NM_177924.5(ASAH1):c.457+5T>C 		INTRON
1030358 Uncertain Significance: Farber disease 18,062,340(-) T/C
NM_177924.5(ASAH1):c.587A>G (p.Lys196Arg) 		MISSENSE
1031747 Pathogenic: Farber disease 18,084,058(-) T/G
NM_177924.5(ASAH1):c.1A>C (p.Met1Leu) 		INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON
1031748 Pathogenic: Farber disease 18,084,057(-) A/C
NM_177924.5(ASAH1):c.2T>G (p.Met1Arg) 		INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASAH1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASAH1 Gene

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

Variation tolerance for ASAH1 Gene

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

Human Gene Mutation Database (HGMD)
ASAH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASAH1
Leiden Open Variation Database (LOVD)
ASAH1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH1 Gene

Disorders for ASAH1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for ASAH1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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 variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for ASAH1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASAH1: view

No data available for Genatlas for ASAH1 Gene

Publications for ASAH1 Gene

  1. 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 22 72
  2. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. (PMID: 10610716) Li CM … Schuchman EH (Genomics 1999) 2 3 4 22
  3. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (PMID: 22703880) Zhou J … Melki J (American journal of human genetics 2012) 3 4 72
  4. 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 22
  5. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. (PMID: 11241842) Bär J … Sandhoff K (Human mutation 2001) 3 4 72

ExternalLinks

View latest publications for ASAH1 gene in Mastermind

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