Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ALAS1 contributors: mct - updated : 05-05-2012
HGNC name aminolevulinate, delta-, synthase 1
HGNC id 396
Location 3p21.1      Physical location : 52.232.115 - 52.248.343
Synonym name
  • succinyl CoA: glycine C succinyl transferase
  • delta-aminolevulinate synthase
  • migration-inducing protein 4
    • Synonym symbol(s) ALAS, ALAS3, ALASH, MIG4
    EC.number 2.3.1.37
    DNA
    TYPE functioning gene
    STRUCTURE 16.23 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   HRE
    text structure
  • NR1H4 response element was identified in the 5 prime flanking region of ALAS1
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text two mRNAs with different 5'-UTRs
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2407 70.6 640 - 2008 18719978
    exon 1B is omitted
    11 - 2258 - 640 - 2008 18719978
  • resistant to haem-mediated decay
  • containing exon 1B
  • translation might be required for destabilisation in response to haem
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     liver    
    Endocrineadrenal gland   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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