Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PAH Gene

protein-coding   GIFtS: 71
GCID: GC12M103230

Phenylalanine Hydroxylase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Phenylalanine Hydroxylase1 2     PKU2
Phenylalanine 4-Monooxygenase1 2     phe-4-monooxygenase2
EC 1.14.16.13 8     phenylalanine-4-hydroxylase2
PKU12 5     Phe-4-monooxygenase3
PH2     EC 1.14.168

External Ids:    HGNC: 85821   Entrez Gene: 50532   Ensembl: ENSG000001717597   OMIM: 6123495   UniProtKB: P004393   

Export aliases for PAH gene to outside databases

Previous GC identifers: GC12M102330 GC12M103190 GC12M101735 GC12M101736 GC12M101737 GC12M100292


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for PAH Gene:
PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism.
Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PAH Gene:
PAH (phenylalanine hydroxylase) is a protein-coding gene. Diseases associated with PAH include phenylketonuria, and mild phenylketonuria. GO annotations related to this gene include amino acid binding and iron ion binding. An important paralog of this gene is TPH2.

Gene Wiki entry for PAH (Phenylalanine hydroxylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the PAH gene promoter:
         c-Fos   NF-1   POU2F1   AP-1   POU2F1a   ATF-2   c-Jun   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPAH promoter sequence
   Search Chromatin IP Primers for PAH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22-q24.2   Ensembl cytogenetic band:  12q23.2   HGNC cytogenetic band: 12q22-q24.2

PAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAH gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M103230:  view genomic region     (about GC identifiers)

Start:
103,230,663 bp from pter      End:
103,352,188 bp from pter
Size:
121,526 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439 (See protein sequence)
Recommended Name: Phenylalanine-4-hydroxylase  
Size: 452 amino acids; 51862 Da
Cofactor: Fe(2+) ion
Subunit: Homodimer and homotetramer
Selected PDB 3D structures from and Proteopedia for PAH (see all 16):
1DMW (3D)        1J8T (3D)        1J8U (3D)        1KW0 (3D)        1LRM (3D)        1MMK (3D)    
Secondary accessions: Q16717 Q8TC14

Explore the universe of human proteins at neXtProt for PAH: NX_P00439

Explore proteomics data for PAH at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PAH (P00439) (see all 19)
     EFGLCKQ  IGLASLG  PQLEDVS  GAGLLSS 


    See PAH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000268.1  
    ENSEMBL proteins: 
     ENSP00000448059   ENSP00000303500   ENSP00000447620   ENSP00000446658  
    Reactome Protein details: P00439

    PAH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for PAH
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for PAH
    OriGene Custom Protein Services for PAH
    GenScript Custom Purified and Recombinant Proteins Services for PAH
    Novus Biologicals PAH Protein
    Novus Biologicals PAH Lysate
    Sino Biological Recombinant Protein for PAH
    Sino Biological Cell Lysate for PAH
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PAH

    PAH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PAH
    OriGene Custom Antibody Services for PAH
    Novus Biologicals PAH Antibodies
    Abcam antibodies for PAH
    Cloud-Clone Corp. Antibodies for PAH
    ThermoFisher Antibodies for PAH
    LSBio Antibodies in human, mouse, rat for PAH

    PAH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PAH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PAH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PAH
    Cloud-Clone Corp. CLIAs for PAH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: L-Phenylalanine hydroxylase
    Amino acid hydroxylases

    Selected InterPro protein domains (see all 6):
     IPR019774 Aromatic-AA_hydroxylase_C
     IPR019773 Tyrosine_3-monooxygenase-like
     IPR001273 ArAA_hydroxylase
     IPR018301 ArAA_hydroxylase_Fe/CU_BS
     IPR005961 Phe-4-hydroxylase_tetra

    Graphical View of Domain Structure for InterPro Entry P00439

    ProtoNet protein and cluster: P00439

    2 Blocks protein domains:
    IPB001273 Aromatic amino acid hydroxylase
    IPB002912 Amino acid-binding ACT


    UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439
    Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family
    Similarity: Contains 1 ACT domain


    PAH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PH4H_HUMAN, P00439
    Catalytic activity: L-phenylalanine + tetrahydrobiopterin + O(2) = L-tyrosine + 4a-hydroxytetrahydrobiopterin
    Enzyme regulation: N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and
    to constitute an "inhibitory" domain that regulates the activity of a catalytic domain in the C-terminal portion
    of the molecule
    Biophysicochemical properties: Kinetic parameters: KM=150 uM for L-Phe with BH(4) as cofactor; KM=30 uM for BH(4);
    Vmax=3640 nmol/min/mg enzyme with BH(4) as cofactor (preincubated with L-Phe); Vmax=1230 nmol/min/mg enzyme with
    BH(4) as cofactor (preincubated with BH(4)); Temperature dependence: Optimum temperature is 50 degrees Celsius;

         Genatlas biochemistry entry for PAH:
    phenylalanine hydroxylase,iron containing enzyme

         Enzyme Numbers (IUBMB): EC 1.14.16.11 2 EC 1.14.162

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004505phenylalanine 4-monooxygenase activity EXP--
    GO:0005506iron ion binding IEA--
    GO:0016597amino acid binding IEA--
    GO:0016714oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen ----
         
    PAH for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pah):
     behavior/neurological  craniofacial  growth/size/body  homeostasis/metabolism  integument 
     nervous system  pigmentation  renal/urinary system  reproductive system  vision/eye 

    PAH for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PAH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PAH

    miRNA
    Products:
        
    miRTarBase miRNAs that target PAH:
    hsa-mir-335-5p (MIRT018158)

    Block miRNA regulation of human, mouse, rat PAH using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PAH:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidPAH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PAH
    Predesigned siRNA for gene silencing in human, mouse, rat PAH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PAH

    Clone
    Products:
         
    OriGene clones in human, mouse for PAH (see all 7)
    OriGene ORF clones in mouse, rat for PAH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAH (NM_000277)
    Sino Biological Human cDNA Clone for PAH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PAH
    Browse ESI BIO Cell Lines and PureStem Progenitors for PAH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    extracellular2
    plasma membrane2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PAH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for PAH About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Phenylalanine metabolism
    Phenylalanine metabolism0.36
    Phenylalanine, tyrosine and tryptophan biosynthesis0.00
    phenylalanine utilization0.33
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3phenylalanine degradation I
    tyrosine biosynthesis IV0.00
    phenylalanine degradation I
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Phenylalanine and tyrosine catabolism0.00
    5Carbon metabolism
    Biosynthesis of amino acids0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for PAH
        Tyrosine metabolism p.1 (dopamine)

    5 BioSystems Pathways for PAH
        Biogenic Amine Synthesis
    SIDS Susceptibility Pathways
    phenylalanine degradation I
    tyrosine biosynthesis IV
    phenylalanine utilization


    2 Reactome Pathways for PAH
        Phenylalanine and tyrosine catabolism
    Abnormal metabolism in phenylketonuria


    4 Kegg Pathways  (Kegg details for PAH):
        Phenylalanine metabolism
    Phenylalanine, tyrosine and tryptophan biosynthesis
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439
    Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step
    1/6


    PAH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PAH: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PAH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for PAH (P004393 ENSP000003035004) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    QDPRP094173, ENSP000002812434I2D: score=1 STRING: ENSP00000281243
    PCBD1P614573, ENSP000002992994I2D: score=1 STRING: ENSP00000299299
    RPS10P467833, ENSP000003472714I2D: score=2 STRING: ENSP00000347271
    AIG1Q9NVV53I2D: score=5 
    ATP5F1P245393I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0008152metabolic process ----
    GO:0008652cellular amino acid biosynthetic process TAS3856322
    GO:0009072aromatic amino acid family metabolic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--

    PAH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PAH (PH4H)

    10 HMDB Compounds for PAH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-211718561
    4a-Hydroxytetrahydrobiopterin2-amino-6-(1,2-dihydroxypropyl)-4a-hydroxy-5,6,7,8-tetrahydropteridin-4(4aH)-one (see all 7)70110-58-6--
    Epinephrine(-)-(R)-Epinephrine (see all 72)51-43-4--
    IronArmco iron (see all 19)7439-89-6--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    L-Tyrosine(-)-a-Amino-p-hydroxyhydrocinnamate (see all 28)60-18-4--
    Norepinephrine(-)-(R)-Norepinephrine (see all 32)51-41-2--
    OxygenOxygen (see all 5)7782-44-7--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10 DrugBank Compounds for PAH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Phenylalanine(S)-alpha-Amino-beta-phenylpropionic acid (see all 4)63-91-2target--12056888 2975336 10203136 12379147 9642259
    NorepinephrineArterenol (see all 4)51-41-2targetinhibitor1646718 4156788 17139284 17016423 2226440
    Tetrahydrobiopterin5,6,7,8 Tetrahydrobiopterin (see all 3)17528-72-2targetcofactor10872454 11163771 10924272 10839989 10089284
    DroxidopaDroxydopa (see all 4)23651-95-8targetinhibitor1646718 4156788 2226440
    (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin-- --target--17139284 17016423
    7,8-Dihydrobiopterin7,8-Dihydro-L-Biopterin (see all 8)6779-87-9target--17139284 17016423
    Beta(2-Thienyl)Alanine-- --target--17139284 17016423
    Norleucine-- --target--17139284 17016423
    Quinonoid 7,8-Tetrahydrobiopterin-- 79647-29-3target--17139284 17016423
    EpinephrineADR Adrenaline (see all 25)51-43-4targetantagonist9843368

    2 IUPHAR Ligands for PAH (L-Phenylalanine hydroxylase )    About this table
    LigandTypeActionAffinityPubmed IDs
    alpha-methylphenylalanine
    InhibitorInhibition944951
    PCPA
    InhibitorInhibition--

    Selected Novoseek inferred chemical compound relationships for PAH gene (see all 61)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylalanine 97.3 1722 8573072 (8), 10964764 (6), 2302187 (6), 17884650 (5) (see all 99)
    hpah 94.4 18 10767175 (2), 12554741 (1), 8570624 (1), 11444803 (1) (see all 17)
    tetrahydrobiopterin 94 161 15556637 (2), 16504182 (2), 19913839 (2), 19394257 (2) (see all 99)
    4a-hydroxytetrahydrobiopterin 92.6 2 8352282 (1), 1988938 (1)
    dihydropteridine 88.7 7 2069475 (1), 1793349 (1), 8352282 (1), 12956422 (1) (see all 7)
    pterin 87.3 16 12459906 (2), 12603331 (2), 12696880 (2), 1359535 (1) (see all 11)
    7-biopterin 85.2 2 1988938 (2)
    tetrahydropterin 82.5 2 1944771 (1), 14999516 (1)
    dmph4 81.5 1 2062852 (1)
    6-methyltetrahydropterin 80.8 4 1944771 (2), 15493924 (1)



    PAH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PAH gene: 
    NM_000277.1  

    Unigene Cluster for PAH:

    Phenylalanine hydroxylase
    Hs.603740  [show with all ESTs]
    Unigene Representative Sequence: NM_000277
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553106(uc001tjq.1) ENST00000307000 ENST00000549247 ENST00000551114
    ENST00000549111(uc010swc.1) ENST00000551988 ENST00000550978 ENST00000551337
    ENST00000548928 ENST00000546844 ENST00000548677 ENST00000547319 ENST00000546708
    ENST00000552251 ENST00000550405
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PAH using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PAH:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidPAH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PAH
    Predesigned siRNA for gene silencing in human, mouse, rat PAH
    Clone
    Products:
         
    OriGene clones in human, mouse for PAH (see all 7)
    OriGene ORF clones in mouse, rat for PAH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PAH (NM_000277)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PAH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAH
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PAH
    OriGene qSTAR qPCR primer pairs in human, mouse for PAH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAH
      QuantiTect SYBR Green Assays in human, mouse, rat PAH
      QuantiFast Probe-based Assays in human, mouse, rat PAH

    Additional mRNA sequence: 

    AK298419.1 AK313383.1 BC026251.1 L47726.1 U49897.1 

    22 DOTS entries:

    DT.95349721  DT.416554  DT.95096800  DT.92456360  DT.100649727  DT.92456345  DT.121179686  DT.416555 
    DT.416557  DT.450436  DT.95096812  DT.100792283  DT.121179746  DT.92456351  DT.92456368  DT.92456354 
    DT.95091252  DT.95096804  DT.95223236  DT.121179705  DT.91694235  DT.91953679 

    Selected AceView cDNA sequences (see all 167):

    BX496128 BG563015 CR599463 AA344539 CB164338 AI474885 AV660089 AL531676 
    BG618056 BG617627 AA344407 AI076719 AA334497 AV681930 BE326688 BG567604 
    CB157159 CB163800 BG429401 BX452405 BG567128 BQ270242 BG401651 BG433489 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    PAH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGAATGT
    PAH Expression
    About this image


    PAH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Liver (Hepatobiliary System)
     
     Kidney (Urinary System)
    PAH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PAH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.603740
        Pathway & Disease-focused RT2 Profiler PCR Array including PAH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PAH
    OriGene qSTAR qPCR primer pairs in human, mouse for PAH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAH
    QuantiTect SYBR Green Assays in human, mouse, rat PAH
    QuantiFast Probe-based Assays in human, mouse, rat PAH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for PAH gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pah1 , 5 phenylalanine hydroxylase1, 5 87.17(n)1
    92.48(a)1
      10 (43.64 cM)5
    184781  NM_008777.31  NP_032803.21 
     875217955 
    chicken
    (Gallus gallus)
    Aves PAH1 phenylalanine hydroxylase 77.06(n)
    83.26(a)
      408024  NM_001001298.1  NP_001001298.1 
    lizard
    (Anolis carolinensis)
    Reptilia PAH6
    phenylalanine hydroxylase
    79(a)
    1 ↔ 1
    5(17785453-17818933)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pah1 phenylalanine hydroxylase 72.54(n)
    77.96(a)
      613076  NM_001032313.1  NP_001027484.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc659812 hypothetical protein MGC65981 74.56(n)   393523  BC056537.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hn1 , 3 eye pigment biosynthesis phenylalanine
    4-monooxygenase3
    Henna1
    62(a)
    (best of 3)3
    63.72(n)1
    63.72(a)1
      3 66A123
    388711  NM_001274613.11  NP_001261542.11 
    worm
    (Caenorhabditis elegans)
    Secernentea bas-23
    pah-11
    phenylalanine-4-hydroxylase (PH4H)3
    pah-11
    56(a)
    (best of 3)3
    57.78(n)1
    58.73(a)1
      II(8762635-8764989)3
    1744011  NM_001267256.11  NP_001254185.11 


    ENSEMBL Gene Tree for PAH (if available)
    TreeFam Gene Tree for PAH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PAH gene
    TPH22  TH2  TPH12  
    3 SIMAP similar genes for PAH using alignment to 16 protein entries:     PH4H_HUMAN (see all proteins):
    TPH2    TPH1    TH

    PAH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    PH4H_HUMAN, P00439: The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity
    of the variant protein is indistinguishable from that of the wild-type form


    Selected SNPs for PAH (see all 2624)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs50308581,2,,4
    C,FPhenylketonuria (PKU)4 pathogenic1103074449(-) TACCTC/TGGCCC 4 R W mis14Minor allele frequency- T:0.00EA NA EU 6223
    rs50308571,2,,4
    C,FPhenylketonuria (PKU)4 untested1103074463(-) CTTTGC/TTGCCA 4 A V mis14Minor allele frequency- T:0.00EA NA EU 6223
    rs50308491,2,,4
    C,F,HPhenylketonuria (PKU)4 pathogenic1103086764(-) CTTCCA/C/GAGTCT 6 Q P R mis1 ese38NS EA NA 4980
    rs775549251,2,,4
    C,FHyperphenylalaninemia (HPA)4 untested1103100508(+) GGTAGA/C/TTGTAG 6 N S I mis12WA NA 4668
    rs751937861,2,,4
    CPhenylketonuria (PKU)4 pathogenic1103128672(-) CCACAA/C/G/
            
    TGAAT
    8 N T S I mis11NA 4550
    rs1180927761,2,,4
    C,FPhenylketonuria (PKU)4 untested1103146581(+) ATAAGC/TGCAAT 4 H R mis13Minor allele frequency- T:0.00EA NA EU 5993
    VAR_0010074
    Phenylketonuria (PKU)4--see VAR_0010072 A T mis40--------
    VAR_0008974
    Phenylketonuria (PKU)4--see VAR_0008972 G S mis40--------
    VAR_0009484
    Phenylketonuria (PKU)4--see VAR_0009482 P L mis40--------
    VAR_0009344
    Phenylketonuria (PKU)4--see VAR_0009342 D V mis40--------

    HapMap Linkage Disequilibrium report for PAH (103230663 - 103352188 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PAH (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746292CNV Deletion23290073
    esv2746287CNV Deletion23290073
    esv1495220CNV Deletion17803354
    esv2674462CNV Deletion23128226
    esv1533666CNV Deletion17803354
    esv2746289CNV Deletion23290073
    dgv215e201CNV Deletion23290073
    esv2370143CNV Deletion18987734
    esv2285780CNV Deletion18987734
    esv2746291CNV Deletion23290073

    Human Gene Mutation Database (HGMD): PAH
    Locus Specific Mutation Databases (LSDB): PAH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PAH
    DNA2.0 Custom Variant and Variant Library Synthesis for PAH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 612349   
    OMIM disorders: 261600  
    UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439
  • Phenylketonuria (PKU) [MIM:261600]: Autosomal recessive inborn error of phenylalanine metabolism, due to
    severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine
    persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless
    low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to
    eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]: Mild form of phenylalanine
    hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal
    intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect
    of a mild hyperphenylalaninemia mutation and a severe one. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Hyperphenylalaninemia (HPA) [MIM:261600]: Mildest form of phenylalanine hydroxylase deficiency. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for PAH (see all 39):    
    About MalaCards
    phenylketonuria    mild phenylketonuria    maternal hyperphenylalaninemia    benign hyperphenylalaninemia
    tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria    mild hyperphenylalaninemia    hiatus hernia    hyperphenylalaninemia
    mevalonic aciduria    dihydropteridine reductase deficiency    tetrahydrobiopterin deficiency    fragile x syndrome
    tyrosinemia    psychotic disorder    autoimmune polyendocrine syndrome    vitiligo
    rickets    tardive dyskinesia    hermansky-pudlak syndrome    gastroesophageal reflux disease

    2 diseases from the University of Copenhagen DISEASES database for PAH:
    Phenylketonuria     Intellectual disability

    PAH for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for PAH gene (see all 20)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phenylketonurias 98.4 447 18773304 (3), 11139255 (2), 1679030 (2), 8827369 (2) (see all 99)
    hyperphenylalaninemia 98.2 202 14601136 (3), 9380432 (2), 17517248 (2), 16527067 (2) (see all 99)
    phenylketonuria classical 94.3 38 9427141 (2), 2063869 (1), 7844888 (1), 7584088 (1) (see all 22)
    phenylketonuria maternal 81 6 10429004 (3), 19631922 (1), 14654659 (1)
    metabolic disorder 64.3 33 1968617 (1), 19172175 (1), 12777691 (1), 18985011 (1) (see all 21)
    severe mental retardation 60.4 7 7584088 (1), 10444341 (1), 20123477 (1), 8384712 (1) (see all 5)
    mental retardation 58.6 6 7628072 (1), 9950308 (1), 10924272 (1), 17637719 (1)
    tyrosinemias 44.6 1 11701644 (1)
    enzyme deficiency 43.2 1 19904458 (1)
    genetic disorder 36.8 12 17221866 (1), 8100164 (1), 17968763 (1), 2309142 (1) (see all 6)

    Genatlas disease: PAH
    phenylketonuria,hyperphenylalaninemia

    GeneTests: PAH
    GeneReviews: PAH
    Genetic Association Database (GAD): PAH
    Human Genome Epidemiology (HuGE) Navigator: PAH (588 documents)

    Export disorders for PAH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for PAH gene, integrated from 10 sources (see all 601):
    (articles sorted by number of sources associating them with PAH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. (PubMed id 9642259)1, 2, 7, 9 Fusetti F.... Stevens R.C. (J. Biol. Chem. 1998)
    2. High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin. (PubMed id 11718561)1, 2, 6, 9 Andersen O.A.... Hough E. (J. Mol. Biol. 2001)
    3. Molecular analysis of phenylketonuria (PKU) in newborns from Texas. (PubMed id 11385716)1, 2, 4, 9 Yang Y.... Garcia-Heras J. (Hum. Mutat. 2001)
    4. Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0-A resolution. (PubMed id 9843368)1, 2, 7 Erlandsen H.... Hough E. (Biochemistry 1998)
    5. Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. (PubMed id 11326337)1, 2, 9 Gjetting T.... Guettler F. (Am. J. Hum. Genet. 2001)
    6. Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency. (PubMed id 12200907)1, 4, 9 Verduci E....Giovannini M. (Acta Paediatr. 2002)
    7. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. (PubMed id 19444284)1, 4, 9 Dobrowolski S.F....Naylor E.W. (J. Hum. Genet. 2009)
    8. Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. (PubMed id 19394257)1, 4, 9 KaraciA8 I....Blau N. (Mol. Genet. Metab. 2009)
    9. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations. (PubMed id 19062537)1, 4, 9 Kasnauskiene J....Kucinskas V. (Genetika 2008)
    10. Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene. (PubMed id 9792411)1, 2, 9 Waters P.J.... Scriver C.R. (Hum. Mutat. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5053 HGNC: 8582 AceView: PAH Ensembl:ENSG00000171759 euGenes: HUgn5053
    ECgene: PAH Kegg: 5053 H-InvDB: PAH

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PAH Pharmacogenomics, SNPs, Pathways
    PAHdbhttp://www.pahdb.mcgill.ca/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PAH[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Phenylalanine_hydroxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PAH gene:
    Search GeneIP for patents involving PAH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PAH   OriGene RNAi products in human, mouse, rat for PAH  
     OriGene qPCR primer pairs and template standards for PAH   Browse OriGene Protein Over-expression Lysates  
     OriGene MassSpec something-or-other for PAH   OriGene clones in human, mouse for PAH  
     OriGene qSTAR qPCR primer pairs in human, mouse for PAH   OriGene Purified Protein for PAH  
     OriGene ORF clones in mouse, rat for PAH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PAH   OriGene Custom Protein Services for PAH  

     
     
     Block miRNA regulation of human, mouse, rat PAH using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PAH
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PAH Predesigned siRNA for gene silencing in human, mouse, rat PAH
     QuantiFast Probe-based Assays in human, mouse, rat PAH QuantiTect SYBR Green Assays in human, mouse, rat PAH
     PCR Arrays including human, mouse, rat PAH Search Chromatin IP Primers for PAH
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PAH  GeneGlobe Interaction Network for PAH
     Regulatory tfbs in PAH promoter
     GenScript Custom Purified and Recombinant Proteins Services for PAH GenScript cDNA clones with any tag delivered in your preferred vector for PAH
     GenScript Custom Assay Services for PAH GenScript Custom overexpressing Cell Line Services for PAH
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PAH (PH4H)
     Proteins for PAH
     Cell Lysates for PAH
     cDNA Clones for PAH
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PAH antibodies
     PAH proteins
     PAH lysates
     Antibodies for PAH
     See all of Abcam's Antibodies, Kits and Proteins for PAH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PAH
     Antibodies for PAH
     ELISAs for PAH
     CLIAs for PAH



     Browse ESI BIO Cell Lines and PureStem Progenitors for PAH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PAH
     SwitchGear 3'UTR luciferase reporter plasmids for PAH
     SwitchGear Promoter luciferase reporter plasmids for PAH
     ThermoFisher Antibodies for PAH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PAH
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PAH
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PAH
     LSBio Antibodies in human, mouse, rat for PAH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PAH gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4