Display Settings:

Format

Send to:

Choose Destination

PAH phenylalanine hydroxylase [ Homo sapiens (human) ]

Gene ID: 5053, updated on 19-Dec-2014
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]
Location:
12q22-q24.2
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (102838326..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 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Abnormal metabolism in phenylketonuria, organism-specific biosystem (from REACTOME)
    Abnormal metabolism in phenylketonuria, organism-specific biosystemPhenylalanine hydroxylase (PAH) catalyzes the conversion of phenylalanine to tyrosine. In the absence of functional PAH, phenylalanine accumulates to high levels in the blood (Mitchell and Scriver 20...
  • Biogenic Amine Synthesis, organism-specific biosystem (from WikiPathways)
    Biogenic Amine Synthesis, organism-specific biosystemBiogenic amines are one of two broad classes of classical neurotransmitters (the other being amino acids) and include: acetylcholine, serotonin, histamine, and the catecholamines epinephrine, norepin...
  • Biosynthesis of amino acids, organism-specific biosystem (from KEGG)
    Biosynthesis of amino acids, organism-specific biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Biosynthesis of amino acids, conserved biosystem (from KEGG)
    Biosynthesis of amino acids, conserved biosystemThis map presents a modular architecture of the biosynthesis pathways of twenty amino acids, which may be viewed as consisting of the core part and its extensions. The core part is the KEGG module fo...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Phenylalanine and tyrosine catabolism, organism-specific biosystem (from REACTOME)
    Phenylalanine and tyrosine catabolism, organism-specific biosystemThe first reaction in this pathway converts phenylalanine to tyrosine, coupled to the conversion of tetrahydrobiopterin to 4a-hydroxytetrahydrobiopterin, catalyzed by phenylalanine hydroxylase. (Defi...
  • Phenylalanine metabolism, organism-specific biosystem (from KEGG)
    Phenylalanine metabolism, organism-specific biosystem
    Phenylalanine metabolism
  • Phenylalanine metabolism, conserved biosystem (from KEGG)
    Phenylalanine metabolism, conserved biosystem
    Phenylalanine metabolism
  • Phenylalanine, tyrosine and tryptophan biosynthesis, organism-specific biosystem (from KEGG)
    Phenylalanine, tyrosine and tryptophan biosynthesis, organism-specific biosystem
    Phenylalanine, tyrosine and tryptophan biosynthesis
  • Phenylalanine, tyrosine and tryptophan biosynthesis, conserved biosystem (from KEGG)
    Phenylalanine, tyrosine and tryptophan biosynthesis, conserved biosystem
    Phenylalanine, tyrosine and tryptophan biosynthesis
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • phenylalanine degradation I (aerobic), organism-specific biosystem (from BIOCYC)
    phenylalanine degradation I (aerobic), organism-specific biosystem: PHE degradation involves its initial hydroxylation to : TYR by : CPLX-7067. This is followed by degradation of : TYR by an organism-specific pathway, such as that shown in the pathway link above. ...
  • phenylalanine degradation I (aerobic), conserved biosystem (from BIOCYC)
    phenylalanine degradation I (aerobic), conserved biosystem|FRAME: PHE| degradation in mammals, and some fungi and bacteria, involves its initial hydroxylation to |FRAME: TYR| by |FRAME: CPLX-7067|. This is followed by degradation of |FRAME: TYR| by an orga...
  • tyrosine biosynthesis IV, organism-specific biosystem (from BIOCYC)
    tyrosine biosynthesis IV, organism-specific biosystemIn humans, : PHE is an indispensable dietary amino acid, which may either be used for protein synthesis or converted to the amino acid : TYR, the precursor for catecholamine and thyroid hormone synt...
  • tyrosine biosynthesis IV, conserved biosystem (from BIOCYC)
    tyrosine biosynthesis IV, conserved biosystemIn humans, |FRAME: PHE| is an indispensable amino acid, which may either be used for protein synthesis or be converted to the nonessential amino acid |FRAME: TYR|, the precursor for catecholamine and...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid 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
 
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular 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 

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

mRNA and Protein(s)

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

    See proteins identical to 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    102838326..102917603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    100291597..100370682
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)