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PAH phenylalanine hydroxylase [ Homo sapiens (human) ]

Gene ID: 5053, updated on 17-Feb-2019

Summary

Official Symbol
PAHprovided by HGNC
Official Full Name
phenylalanine hydroxylaseprovided by HGNC
Primary source
HGNC:HGNC:8582
See related
Ensembl:ENSG00000171759 MIM:612349
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
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Expression
Biased expression in liver (RPKM 237.1), kidney (RPKM 166.4) and 1 other tissue See more
Orthologs

Genomic context

See PAH in Genome Data Viewer
Location:
12q23.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (102836885..102958410, 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 LOC105369944 Neighboring gene long intergenic non-protein coding RNA 485 Neighboring gene uncharacterized LOC112267865 Neighboring gene VISTA enhancer hs1122 Neighboring gene VISTA enhancer hs1574 Neighboring gene VISTA enhancer hs1114 Neighboring gene achaete-scute family bHLH transcription factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
phenylalanine 4-monooxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
neurotransmitter biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
tyrosine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phenylalanine-4-hydroxylase
Names
phe-4-monooxygenase
phenylalanine 4-monooxygenase
NP_000268.1
NP_001341233.1
XP_016874859.1

NCBI Reference Sequences (RefSeq)

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_008690.2 RefSeqGene

    Range
    45808..126526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000277.3NP_000268.1  phenylalanine-4-hydroxylase

    See identical proteins and their annotated locations for NP_000268.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC069227, BC026251, BQ268294, U49897
    Consensus CDS
    CCDS9092.1
    UniProtKB/Swiss-Prot
    P00439
    UniProtKB/TrEMBL
    A0A024RBG4
    Related
    ENSP00000448059.1, ENST00000553106.5
    Conserved Domains (1) summary
    TIGR01268
    Location:20452
    Phe4hydrox_tetr; phenylalanine-4-hydroxylase, tetrameric form
  2. NM_001354304.1NP_001341233.1  phenylalanine-4-hydroxylase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC026108, AC069227, BQ268294, DA299598
    Consensus CDS
    CCDS9092.1
    Conserved Domains (1) summary
    TIGR01268
    Location:20452
    Phe4hydrox_tetr; phenylalanine-4-hydroxylase, tetrameric form

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    102836885..102958410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019370.2XP_016874859.1  phenylalanine-4-hydroxylase isoform X1

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