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    PAH phenylalanine hydroxylase [ Homo sapiens (human) ]

    Gene ID: 5053, updated on 26-Jun-2015
    Official Symbol
    PAHprovided by HGNC
    Official Full Name
    phenylalanine hydroxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:8582
    See related
    Ensembl:ENSG00000171759; HPRD:08943; MIM:612349; Vega:OTTHUMG00000169966
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PH; PKU; PKU1
    Summary
    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]
    Orthologs
    Location:
    12q22-q24.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (102838321..102917603, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103232104..103311381, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369942 Neighboring gene insulin-like growth factor 1 (somatomedin C) Neighboring gene long intergenic non-protein coding RNA 485 Neighboring gene uncharacterized LOC101929036 Neighboring gene achaete-scute family bHLH transcription factor 1

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    cofactor binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phenylalanine 4-monooxygenase activity EXP
    Inferred from Experiment
    more info
     
    phenylalanine 4-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    L-phenylalanine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    L-phenylalanine catabolic process TAS
    Traceable Author Statement
    more info
     
    catecholamine biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cellular amino acid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
     
    neurotransmitter biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    protein hydroxylation IEA
    Inferred from Electronic Annotation
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    tetrahydrobiopterin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    tyrosine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    phenylalanine-4-hydroxylase
    Names
    phenylalanine-4-hydroxylase
    phe-4-monooxygenase
    phenylalanine 4-monooxygenase
    NP_000268.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008690.1 RefSeqGene

      Range
      5001..84277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000277.1NP_000268.1  phenylalanine-4-hydroxylase

      See identical proteins and their annotated locations for NP_000268.1

      Status: REVIEWED

      Source sequence(s)
      U49897
      Consensus CDS
      CCDS9092.1
      UniProtKB/TrEMBL
      A0A024RBG4
      UniProtKB/Swiss-Prot
      P00439
      Related
      ENSP00000303500, OTTHUMP00000242536, ENST00000307000, OTTHUMT00000406693
      Conserved Domains (3) summary
      TIGR01268
      Location:20452
      Phe4hydrox_tetr; phenylalanine-4-hydroxylase, tetrameric form
      cd04931
      Location:21110
      ACT_PAH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, phenylalanine hydroxylases (PAH)
      cd03347
      Location:119424
      eu_PheOH; Eukaryotic phenylalanine-4-hydroxylase (eu_PheOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic phenylalanine-4-hydroxylase (pro_PheOH), eukaryotic ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

      Range
      102838321..102917603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538422.1XP_011536724.1  

      Conserved Domains (3) summary
      TIGR01268
      Location:20433
      Phe4hydrox_tetr; phenylalanine-4-hydroxylase, tetrameric form
      cd04931
      Location:21110
      ACT_PAH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, phenylalanine hydroxylases (PAH)
      cd03347
      Location:119405
      eu_PheOH; Eukaryotic phenylalanine-4-hydroxylase (eu_PheOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic phenylalanine-4-hydroxylase (pro_PheOH), eukaryotic ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      103199004..103278175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)