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Aliases for ASAH1 Gene

Aliases for ASAH1 Gene

  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1 2 3
  • AC 3 4 6
  • Putative 32 KDa Heart Protein 3 4
  • Acylsphingosine Deacylase 3 4
  • EC 3.5.1.23 4 64
  • Acid CDase 3 4
  • SMAPME 3 6
  • ACDase 3 4
  • PHP32 3 4
  • ASAH 3 4
  • N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 2
  • N-Acylsphingosine Amidohydrolase 4
  • Acid Ceramidase 3
  • PHP 3

External Ids for ASAH1 Gene

Previous Symbols for ASAH1 Gene

  • ASAH

Summaries for ASAH1 Gene

Entrez Gene Summary for ASAH1 Gene

  • This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASAH1 Gene

ASAH1 (N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 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 Sphingolipid metabolism. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is NAAA.

UniProtKB/Swiss-Prot for ASAH1 Gene

  • Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid

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). Ceramide and its downstream products, sphingosine and S1P, are bioactive lipids that mediate various cellular processes including cell growth arrest, differentiation and apoptosis.

Gene Wiki entry for ASAH1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH1 Gene

Genomics for ASAH1 Gene

Genomic Location for ASAH1 Gene

Start:
18,056,416 bp from pter
End:
18,084,998 bp from pter
Size:
28,583 bases
Orientation:
Minus strand

Genomic View for ASAH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASAH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASAH1 Gene

Regulatory Elements for ASAH1 Gene

Transcription factor binding sites by QIAGEN in the ASAH1 gene promoter:

Proteins for ASAH1 Gene

  • 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 of one alpha and one beta subunit
    SequenceCaution:
    • Sequence=AAC73009.1; Type=Frameshift; Positions=15, 21; Evidence={ECO:0000305};

    Alternative splice isoforms for ASAH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASAH1 Gene

Proteomics data for ASAH1 Gene at MOPED

Post-translational modifications for ASAH1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys92
  • Glycosylation at Asn173, Asn195, Asn259, Asn286, Asn342, and Asn348

Other Protein References for ASAH1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ASAH1 Gene

UniProtKB/Swiss-Prot:

ASAH1_HUMAN
Family:
  • Belongs to the acid ceramidase family.:
    • Q13510
genes like me logo Genes that share domains with ASAH1: view

No data available for Gene Families for ASAH1 Gene

Function for ASAH1 Gene

Molecular function for ASAH1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
UniProtKB/Swiss-Prot Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid

Enzyme Numbers (IUBMB) for ASAH1 Gene

Gene Ontology (GO) - Molecular Function for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 8955159
GO:0017040 ceramidase activity TAS --
genes like me logo Genes that share ontologies with ASAH1: view
genes like me logo Genes that share phenotypes with ASAH1: view

Animal Models for ASAH1 Gene

MGI Knock Outs for ASAH1:

miRNA for ASAH1 Gene

miRTarBase miRNAs that target ASAH1

No data available for Transcription Factor Targeting and HOMER Transcription for ASAH1 Gene

Localization for ASAH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASAH1 Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASAH1 Gene COMPARTMENTS Subcellular localization image for ASAH1 gene
Compartment Confidence
lysosome 5
vacuole 5
cytosol 3
nucleus 2
endosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ASAH1: view

Pathways for ASAH1 Gene

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

Gene Ontology (GO) - Biological Process for ASAH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0006665 sphingolipid metabolic process TAS --
GO:0006672 ceramide metabolic process TAS 8955159
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008219 cell death --
genes like me logo Genes that share ontologies with ASAH1: view

Compounds for ASAH1 Gene

(1) Tocris Compounds for ASAH1 Gene

Compound Action Cas Number
Ceranib 1 Ceramidase inhibitor; antiproliferative [328076-61-5]

(120) HMDB Compounds for ASAH1 Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(5) Novoseek inferred chemical compound relationships for ASAH1 Gene

Compound -log(P) Hits PubMed IDs
ceramide 87.7 23
sphingosine 87.1 12
n-oleoylethanolamine 80.4 3
fatty acid 23.1 4
lipid 8.38 2
genes like me logo Genes that share compounds with ASAH1: view

Transcripts for ASAH1 Gene

Unigene Clusters for ASAH1 Gene

N-acylsphingosine amidohydrolase (acid ceramidase) 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
ASAH1

Expression for ASAH1 Gene

mRNA expression in normal human tissues for ASAH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASAH1 Gene

This gene is overexpressed in Whole Blood (4.7) and Heart - Left Ventricle (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASAH1 Gene

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 highest expression in heart
genes like me logo Genes that share expressions with ASAH1: view

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 36
  • 99.16 (n)
  • 98.48 (a)
ASAH1 37
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASAH1 36
  • 87.43 (n)
  • 84.05 (a)
ASAH1 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASAH1 36
  • 89.25 (n)
  • 87.53 (a)
ASAH1 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asah1 36
  • 84.08 (n)
  • 80.21 (a)
Asah1 16
Asah1 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASAH1 37
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 75 (a)
OneToMany
-- 37
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Asah1 36
  • 84.34 (n)
  • 83.38 (a)
chicken
(Gallus gallus)
Aves ASAH1 36
  • 68.47 (n)
  • 64.59 (a)
ASAH1 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASAH1 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22164 36
tropical clawed frog
(Silurana tropicalis)
Amphibia asah1 36
  • 65.87 (n)
  • 62.6 (a)
Str.5508 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9300 36
zebrafish
(Danio rerio)
Actinopterygii asah1a 37
  • 58 (a)
OneToMany
asah1b 36
  • 63.32 (n)
  • 61.64 (a)
asah1b 37
  • 58 (a)
OneToMany
zgc66026 36
worm
(Caenorhabditis elegans)
Secernentea asah-1 36
  • 49.73 (n)
  • 40.59 (a)
asah-1 37
  • 38 (a)
OneToMany
F27E5.1 37
  • 32 (a)
OneToMany
Species with no ortholog for ASAH1:
  • 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)

Paralogs for ASAH1 Gene

Paralogs for ASAH1 Gene

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

Variants for ASAH1 Gene

Sequence variations from dbSNP and Humsavar for ASAH1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3810 -- 18,056,608(+) CAGTT(A/G/T)GATTT utr-variant-3-prime
rs6769 -- 18,056,796(-) TCCCA(C/G)GTTCT utr-variant-3-prime
rs6770 -- 18,056,805(-) AAAAC(C/T)GCATC utr-variant-3-prime
rs6771 -- 18,056,847(-) TTACT(C/G)TACTT utr-variant-3-prime
rs7508 -- 18,056,461(-) AGTCA(C/T)TGGAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv522647 CNV Loss 19592680
nsv820215 CNV Loss 19587683
nsv890596 CNV Loss 21882294

Relevant External Links for ASAH1 Gene

HapMap Linkage Disequilibrium report
ASAH1
Human Gene Mutation Database (HGMD)
ASAH1

Disorders for ASAH1 Gene

(2) OMIM Diseases for ASAH1 Gene (613468)

UniProtKB/Swiss-Prot

ASAH1_HUMAN
  • Farber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid disease characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years 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: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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ASAH1 Gene

(3) Novoseek inferred disease relationships for ASAH1 Gene

Disease -log(P) Hits PubMed IDs
lipogranulomatosis 90.2 1
cancer 25.3 6
tumors 18.4 8

Relevant External Links for ASAH1

Genetic Association Database (GAD)
ASAH1
Human Genome Epidemiology (HuGE) Navigator
ASAH1
genes like me logo Genes that share disorders with ASAH1: view

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. (J. Biol. Chem. 1996) 2 3 4 23
  2. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. (PMID: 10610716) Li C.M. … Schuchman E.H. (Genomics 1999) 2 3 4 23
  3. KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. (PMID: 16500425) Park J.H. … Schuchman E.H. (Biochim. Biophys. Acta 2005) 3 23
  4. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. (PMID: 16951918) Devi A.R.R. … Bashyam M. (J. Hum. Genet. 2006) 4 23
  5. Overexpression of acid ceramidase protects from tumor necrosis factor-induced cell death. (PMID: 10974027) Strelow A. … Adam D. (J. Exp. Med. 2000) 3 23

Products for ASAH1 Gene

Sources for ASAH1 Gene

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