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PAH phenylalanine hydroxylase [ Homo sapiens (human) ]

Gene ID: 5053, updated on 19-Apr-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
See PAH in MapViewer
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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Phenylketonuria Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
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
 
phenylalanine 4-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 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
    Probable_phenylalanine-4-hydroxylase_1; 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)