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FLASH GENE
Symbol ACER1 contributors: mct - updated : 03-06-2018
HGNC name alkaline ceramidase 1
HGNC id 18356
Location 19p13.3      Physical location : 6.306.509 - 6.333.640
Synonym name
  • likely ortholog of mouse endoplasmic reticulum alkaline ceramidase
  • alkaline ceramidase 1
  • AlkCDase 1
  • N-acylsphingosine amidohydrolase (alkaline ceramidase) 3
  • Synonym symbol(s) MGC138329, MGC138327, ASAH3, ALKCDase1
    EC.number 3.5.1.23
    DNA
    TYPE functioning gene
    STRUCTURE 54.23 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1088 31 264 - 2006 16477081
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Skin/Tegumentskin   highly Homo sapiens
     skin appendagesskin gland    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythrocyte Homo sapiens
    Skin/Tegumentkeratinocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine 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
  • found in the endoplasmic reticulum
  • specifically expressed in differentiated interfollicular epidermis, infundibulum and sebaceous glands
  • basic FUNCTION
  • hydrolyzing only phytoceramide into phytosphingosine
  • catalyzed the hydrolysis of very long-chain ceramides to generate sphingosine (SPH)
  • alkaline ceramidase activity is important for the generation of SPH, the S1P precursor in erythrocytes
  • is indispensable for mammalian skin homeostasis and whole-body energy homeostasis
  • plays an important role in keratinocyte differentiation
  • role for ACER1 in mediating the calcium-induced growth arrest and differentiation of epidermal keratinocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • upregulation of ACER1 and ASAH1 mediates calcium-induced differentiation of epidermal keratinocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Acer1-deficient (Acer1(-/-) ) mice showed elevated levels of ceramide in the skin, aberrant hair shaft cuticle formation and cyclic alopecia (PMID;