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FLASH GENE
Symbol ACER1 contributors: mct - updated : 03-06-2018
HGNC name alkaline ceramidase 1
HGNC id 18356
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;