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FLASH GENE
Symbol ASAH1 contributors: mct/pgu - updated : 03-07-2018
HGNC name N-acylsphingosine amidohydrolase (acid ceramidase) 1
HGNC id 735
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