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FLASH GENE
Symbol PAH contributors: npt/mct - updated : 18-01-2011
HGNC name phenylalanine hydroxylase
HGNC id 8582
Corresponding disease
PKU phenylketonuria
Location 12q23.2      Physical location : 103.232.103 - 103.311.381
Synonym name amino acid hydroxylase
Synonym symbol(s) PKU, PKU1, PH
EC.number 1.14.16.1
DNA
TYPE functioning gene
STRUCTURE 79.28 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   enhancer
text structure liver-specific enhancer and binding sites both known to mediate cAMP signaling within the enhancer
MAPPING cloned Y linked Y status confirmed
Map cen - PAH - IGF1 - ASCL1 - NFYB - TRA1 - DAO ,NOS1 - qter
Authors Renault (94)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2680 - 452 - 1992 1301187
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly Homo sapiens
Urinarykidney    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • from the N terminus a regulatory, a catalytic and a tetramerization domains
  • one ACT domain
  • one small ligand binding domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Pah
    Homologene
    FAMILY
  • biopterin-dependent aromatic aminoacid hydroxylase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • phenylalanine hydroxylase, iron containing enzyme
  • rate-limiting step in phenylalanine catabolism
  • liver-specific phenylalanine hydroxylase catalyzes the conversion of phenylalanine to tyrosine
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • natural cofactor of phenylalanine hydroxylase (PAH), tetrahydrobiopterin (BH4), regulates the enzyme activity as well as being essential in catalysis
    • protein
    cell & other
    REGULATION
    Other complexly regulated by its substrate L-Phenylalanine and its natural cofactor 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH(4))
    regulated by both arginine AA and exon 7 which is of great significance with regards to the structure and function of the PAH enzyme
    regulated by three main mechanisms, substrate (L-Phe) activation, pterin cofactor inhibition and phosphorylation of a single serine (Ser16) residue
    ASSOCIATED DISORDERS
    corresponding disease(s) PKU
    related resource Phenylalanine Hydroxylase Locus Database Home Page
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    metabolism  
    ANIMAL & CELL MODELS