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FLASH GENE
Symbol ALAS1 contributors: mct - updated : 05-05-2012
HGNC name aminolevulinate, delta-, synthase 1
HGNC id 396
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
Homologene
FAMILY
  • class-II pyridoxal-phosphate-dependent aminotransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text
  • synthesized on the rough endoplasmic reticulum and subsequently transferred across the outer and inner membranes of mitochondria, a process requiring additional processing by peptidases and protection by chaperones for proper folding
    • basic FUNCTION
  • catalyzing the first step of porphyrin biosynthesis, pyridoxal dependent
  • rate-limiting enzyme in heme synthesis in the liver and is highly regulated to adapt to the metabolic demand of the hepatocyte (
  • first rate controlling enzyme that controls cellular heme biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
    • protein
  • interacting with STAMBP
  • direct target of the bile acid-activated nuclear receptor farnesoid X receptor (NR1H4)
  • hepatic ALAS1 is a new direct target for the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARA)
  • interacting with LONP1 (a nuclearly encoded and mitochondrially located stress-responsive protease, that is involved in heme-mediated ALAS1 turnover)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS