Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ASAH1 contributors: mct/pgu - updated : 03-07-2018
HGNC name N-acylsphingosine amidohydrolase (acid ceramidase) 1
HGNC id 735
Corresponding disease
FLGD Farber lipogranulomatosis
SMAPME spinal muscular atrophy associated with progressive myoclonic epilepsy
Location 8p22      Physical location : 17.913.924 - 17.942.507
Synonym name
  • heart protein, 32kda
  • acylsphingosine deacylase
  • acid ceramidase
  • putative 32 kDa heart protein
    • Synonym symbol(s) ASAH, PHP32, AC, FLJ21558, FLJ22079, HSD33, PHP, ACDase, SMAPME 61
    EC.number 3.5.1.23
    DNA
    TYPE functioning gene
    STRUCTURE 28.58 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2551 - 411 - 1996 8955159
  • differs in the 5' UTR and coding region, these differences cause translation initiation at an upstream ATG and an isoform (b) with a distinct N-terminus
  • ASAH1b
  • plays an essential role in motor-neuron axonal branching and in the survival of spinal-cord neurons
    • 14 - 2618 44.6 395 - 1996 8955159
  • isoform a, preproprotein
    • 14 - 2485 - 389 skeletal muscle 1996 8955159
  • isoform c
    • 14 - 2267 - 330 - 1996 8955159
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Reproductivefemale systemplacenta  lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    Urinarykidney   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a leader sequence followed by the alpha subunit (13kDa) and beta subunit (40kDa) in the C region
  • six N-linked glycosylation sites
    • conjugated GlycoP
    mono polymer heteromer , dimer
    isoforms Precursor heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit
    HOMOLOGY
    Homologene
    FAMILY
  • acid ceramidase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,lysosome
    text
  • localized to the lysosomal compartment
    • basic FUNCTION
  • catalyzing the degradation of ceramide to fatty acid and sphingosine
  • is a pivotal regulator of steroidogenic capacity in the human adrenal cortex
  • ASAH1 and AKT2 cooperate to induce malignant transformation
  • acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes
  • is involved in the regulation of cell viability
  • plays a critical role in AML survival through regulation of both sphingolipid levels and MCL1
  • is an acid ceramidase known to be involved in tumor formation by controlling the ratio of ceramide and sphingosine
  • ASAH1 is also involved in cell proliferation and inflammation, and may affect the development of keloids via multiple mechanisms
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • heterodimer of an alpha (13kDa) and beta (40kDa) subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KLF6 (transcription factor involved in the regulation of ASAH1 gene expression)
  • upregulation of ACER1 and ASAH1 mediates calcium-induced differentiation of epidermal keratinocytes
  • general transcription target of IRF8
  • ASAH1 is a novel coregulatory protein that represses NR5A1 function by directly binding to the receptor on NR5A1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription
    • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    CREBP-responsive regions in the promoter ACTH signaling pathway induces ASAH1 transcription by stimulating the binding of CREBP in the promoter
    ASSOCIATED DISORDERS
    corresponding disease(s) FLGD , SMAPME
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in prostate carcinoma
    Susceptibility to adult SMA phenotype with no myoclonic epilepsy
    Variant & Polymorphism SNP
  • association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    expression correlates with a better prognosis in ER-positive breast cancer
    cancerreproductiveprostate
    critical regulator of prostate cancer progression by affecting tumor cell proliferation and migration and also responses to drug therapy, suggesting ASAH1 as a potential therapy target in advanced PCa
    ANIMAL & CELL MODELS