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FLASH GENE
Symbol ALAD contributors: npt/ - updated : 13-11-2006
HGNC name aminolevulinate, delta-, dehydratase
HGNC id 395
Corresponding disease
ALADD ALAD deficiency
Location 9q32      Physical location : 116.148.592 - 116.163.618
Synonym name
  • porphobilinogen synthase
  • delta-aminolevulinic acid dehydratase
  • Synonym symbol(s) MGC5057, ALADH, PBGS
    EC.number 4.2.1.24
    DNA
    TYPE functioning gene
    STRUCTURE 15.03 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    KIAA1958 9q33.1 KIAA1958 HSPC043 LOC389785 9 similar to RIKEN cDNA 4732481H14 LOC169831 9q33.1 similar to RIKEN cDNA 4732481H14 TSCOT 6p21-p11.2 thymic stromal co-transporter LOC169834 9q33.1 hypothetical protein LOC169834 ZFP37 9q32 zinc finger protein 37 homolog (mouse) SLC31A2 9q31-q32 solute carrier family 31 (copper transporters), member 2 SLC31A1 9q31-q32 solute carrier family 31 (copper transporters), member 1 CDC26 9q32 cell division cycle 26 PRPF4 9q31-q33 PRP4 pre-mRNA processing factor 4 homolog (yeast) MGC4734 9q33.1 hypothetical protein MGC4734 WDR31 9q33.1 WD repeat domain 31 BSPRY 9q33.1 B-box and SPRY domain containing MGC12904 9q33.1 hypothetical protein MGC12904 ALAD 9q33.3 aminolevulinate, delta-, dehydratase POLE3 9q33 polymerase (DNA directed), epsilon 3 (p17 subunit) C9orf43 9q33.1 chromosome 9 open reading frame 43 RGS3 9q31-q33 regulator of G-protein signalling 3 FLJ31713 9q33.1 hypothetical protein FLJ31713 LOC392385 9 similar to programmed cell death 2 isoform 1; zinc finger protein Rp-8; programmed cell death 2/Rp8 homolog KIAA1952 9q33.1 KIAA1952 protein AMBP 9q32-q33 alpha-1-microglobulin/bikunin precursor KIF12 9q33.1 kinesin family member 12 COL27A1 9q33.1 collagen, type XXVII, alpha 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3317 - 330 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
     mouthtongue  moderately
     stomach   moderately
    Lymphoid/Immunespleen   highly
    Nervousbrain   moderately
    Reproductivefemale systemplacenta  moderately
     female systembreastmammary gland moderately
     male systemprostate   
    Urinarybladder   moderately
     kidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerythroblast
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a catalytic domain
  • secondary structure an alpha 1 helix at the N terminus
    mono polymer homomer , dimer , hexamer
    HOMOLOGY
    interspecies ortholog to murine Alad
    ortholog to rattus Alad
    Homologene
    FAMILY
  • ALADH family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • catalyzing the condensation of two molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins)
  • CELLULAR PROCESS protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    second step of porphyrin and heme biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Zn2+
  • protein
    cell & other
    REGULATION
    inhibited by lead
    ASSOCIATED DISORDERS
    corresponding disease(s) ALADD
    Susceptibility to lead poisoning
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS