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FLASH GENE
Symbol ASAH1 contributors: mct/pgu - updated : 23-07-2010
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
    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
    Physical map
    N33 8p22 RNA, U3 small nucleolar pseudogene 2 LOC137012 8p22 protein phosphatase 1A pseudogene LOC392202 8 similar to 60S ribosomal protein L32 MSR1 8p22 macrophage scavenger receptor 1 LOC392203 8 similar to matricin MRPL49P2 8p22 similar to matricin FGF20 8p22-p21.3 fibroblast growth factor 20 LOC286097 8p22 hypothetical protein LOC286097 ZDHHC2 8p21.3-p22 zinc finger, DHHC domain containing 2 CNOT7 8p22-p21.3 CCR4-NOT transcription complex, subunit 7 FLJ32642 8p22 hepatocellular carcinoma related protein 1 MTMR7 8p22 myotubularin related protein 7 LOC392204 8 similar to ADAM 25 precursor (A disintegrin and metalloproteinase domain 25) (Testase 2) SLC7A2 8p22-p21.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 PDGFRL 8p22-p21.3 platelet-derived growth factor receptor-like MTSG1 8p22 mitochondrial tumor suppressor gene 1 LOC389636 8 LOC389636 FGL1 8p22-p21.3 fibrinogen-like 1 PCM1 8p22-p21.3 pericentriolar material 1 ASAH1 8p22-p21.3 N-acylsphingosine amidohydrolase (acid ceramidase) 1 MRPS18CP3 8p21.3 mitochondrial ribosomal protein S18C pseudogene 3 UNQ9391 8p23.1 tryptophan/serine protease NAT1 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) LOC392205 8 similar to acetyltransferase LOC392206 8 similar to ribosomal protein L10a NAT2 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) DKFZp761K1423 8p22 hypothetical protein DKFZp761K1423 EFA6R 8pter-p23.3 hypothetical protein DKFZp761K1423 LOC389637 8 LOC389637 LOC389638 8 LOC389638 LOC392207 8 similar to PMCA2av FLJ20967 8p21.2 hypothetical protein FLJ20967 ChGn 8p21.3 chondroitin beta1,4 N-acetylgalactosaminyltransferase FLJ10569 8p21.3 hypothetical protein FLJ10569 LPL 8p22 lipoprotein lipase SLC18A1 8p21.3 solute carrier family 18 (vesicular monoamine), member 1 ATP6V1B2 8p22 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 LZTS1 8p22 leucine zipper, putative tumor suppressor 1 RNU3P2 8p21.3 RNA, U3 small nucleolar pseudogene 2 LOC286114 8p21.3 hypothetical protein LOC286114
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2551 - 411 - 2012 22703880
  • 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
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     stomach    
    Endocrinepancreas   lowly
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    Muscularstriatumskeletal  
    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     intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • catalyzing the degradation of ceramide to fatty acid and sphingosine
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KLF6 (transcription factor involved in the regulation of ASAH1 gene expression)
  • general transcription target of IRF8
  • 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
    Variant & Polymorphism
    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