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FLASH GENE
Symbol ACER3 contributors: mct - updated : 03-07-2018
HGNC name alkaline ceramidase 3
HGNC id 16066
Corresponding disease
PLDECO leukodystrophy, progressive, early childhood-onset
Location 11q13.5      Physical location : 76.571.916 - 76.734.850
Synonym name
  • phytoceramidase, alkaline
  • alkCDase 3
  • alkaline dihydroceramidase SB89
  • Synonym symbol(s) APHC, FLJ11238, PHCA, PLDECO
    EC.number 3.5.1.23
    DNA
    TYPE functioning gene
    STRUCTURE 165.92 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 7390 31.6 267 - 2010 20068046
    11 - 7461 - 172 - 2010 20068046
    10 - 7337 - 172 - 2010 20068046
    10 - 7279 - 230 - 2010 20068046
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemplacenta  predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Acer3 (88.4pc)
    homolog to rattus Phca (88.0pc)
    intraspecies homolog to ACER2, ACER1
    Homologene
    FAMILY
  • alkaline ceramidase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • integral membrane protein
  • localized to the endoplasmic reticulum and the Golgi complex
  • basic FUNCTION
  • hydrolyzes only phytoceramide into phytosphingosine and free fatty acids
  • hydrolyzing unsaturated long-chain ceramides (Hu 2010)
  • coordinates with ACER2 to regulate cell proliferation and survival (Hu 2010)
  • alkaline ceramidase activity is important for the generation of SPH, the S1P precursor in erythrocytes
  • contributes to acute myeloid leukemia (AML) pathogenesis
  • play likely a protective role in sphingolipid homeostasis in the brain
  • is involved in motor coordination-associated Purkinje cell degeneration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by Ca2+
    inhibited by Zn2+
    ASSOCIATED DISORDERS
    corresponding disease(s) PLDECO
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    alkaline ceramidase inhibition is an option to treat AML
    ANIMAL & CELL MODELS
    Acer3 deficient mice demonstrated impairment in motor coordination and balance capabilities