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PAH (phenylalanine hydroxylase)

Identity

Alias_symbol (synonym)PH
Other aliasPKU
PKU1
HGNC (Hugo) PAH
LocusID (NCBI) 5053
Atlas_Id 71633
Location 12q23.2  [Link to chromosome band 12q23]
Location_base_pair Starts at 102838326 and ends at 102917603 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANAPC7 (12q24.11) / PAH (12q23.2)EEA1 (12q22) / PAH (12q23.2)PAH (12q23.2) / CAT (11p13)
PAH (12q23.2) / NINJ2 (12p13.33)EEA1 PAHANAPC7 PAH

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PAH   8582
Cards
Entrez_Gene (NCBI)PAH  5053  phenylalanine hydroxylase
AliasesPH; PKU; PKU1
GeneCards (Weizmann)PAH
Ensembl hg19 (Hinxton)ENSG00000171759 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171759 [Gene_View]  chr12:102838326-102917603 [Contig_View]  PAH [Vega]
ICGC DataPortalENSG00000171759
TCGA cBioPortalPAH
AceView (NCBI)PAH
Genatlas (Paris)PAH
WikiGenes5053
SOURCE (Princeton)PAH
Genetics Home Reference (NIH)PAH
Genomic and cartography
GoldenPath hg38 (UCSC)PAH  -     chr12:102838326-102917603 -  12q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAH  -     12q23.2   [Description]    (hg19-Feb_2009)
EnsemblPAH - 12q23.2 [CytoView hg19]  PAH - 12q23.2 [CytoView hg38]
Mapping of homologs : NCBIPAH [Mapview hg19]  PAH [Mapview hg38]
OMIM261600   612349   
Gene and transcription
Genbank (Entrez)AK298419 AK313383 BC026251 HQ447614 K03020
RefSeq transcript (Entrez)NM_000277
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAH
Cluster EST : UnigeneHs.603740 [ NCBI ]
CGAP (NCI)Hs.603740
Alternative Splicing GalleryENSG00000171759
Gene ExpressionPAH [ NCBI-GEO ]   PAH [ EBI - ARRAY_EXPRESS ]   PAH [ SEEK ]   PAH [ MEM ]
Gene Expression Viewer (FireBrowse)PAH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5053
GTEX Portal (Tissue expression)PAH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00439   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00439  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00439
Splice isoforms : SwissVarP00439
Catalytic activity : Enzyme1.14.16.1 [ Enzyme-Expasy ]   1.14.16.11.14.16.1 [ IntEnz-EBI ]   1.14.16.1 [ BRENDA ]   1.14.16.1 [ KEGG ]   
PhosPhoSitePlusP00439
Domaine pattern : Prosite (Expaxy)ACT (PS51671)    BH4_AAA_HYDROXYL_1 (PS00367)    BH4_AAA_HYDROXYL_2 (PS51410)   
Domains : Interpro (EBI)ACT_dom    ArAA_hydroxylase    ArAA_hydroxylase_Fe/CU_BS    Aromatic-AA_hydroxylase_C    Phe-4-hydroxylase_tetra    Tyrosine_3-monooxygenase-like   
Domain families : Pfam (Sanger)ACT (PF01842)    Biopterin_H (PF00351)   
Domain families : Pfam (NCBI)pfam01842    pfam00351   
Conserved Domain (NCBI)PAH
DMDM Disease mutations5053
Blocks (Seattle)PAH
PDB (SRS)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
PDB (PDBSum)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
PDB (IMB)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
PDB (RSDB)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
Structural Biology KnowledgeBase1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
SCOP (Structural Classification of Proteins)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
CATH (Classification of proteins structures)1DMW    1J8T    1J8U    1KW0    1LRM    1MMK    1MMT    1PAH    1TDW    1TG2    2PAH    3PAH    4ANP    4PAH    5FII    5PAH    6PAH   
SuperfamilyP00439
Human Protein AtlasENSG00000171759
Peptide AtlasP00439
HPRD08943
IPIIPI00017579   IPI01022545   IPI00930180   IPI00930544   IPI00930512   IPI01022596   IPI01022733   
Protein Interaction databases
DIP (DOE-UCLA)P00439
IntAct (EBI)P00439
FunCoupENSG00000171759
BioGRIDPAH
STRING (EMBL)PAH
ZODIACPAH
Ontologies - Pathways
QuickGOP00439
Ontology : AmiGOphenylalanine 4-monooxygenase activity  phenylalanine 4-monooxygenase activity  iron ion binding  cytosol  L-phenylalanine catabolic process  L-phenylalanine catabolic process  cellular amino acid biosynthetic process  amino acid binding  neurotransmitter biosynthetic process  catecholamine biosynthetic process  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIphenylalanine 4-monooxygenase activity  phenylalanine 4-monooxygenase activity  iron ion binding  cytosol  L-phenylalanine catabolic process  L-phenylalanine catabolic process  cellular amino acid biosynthetic process  amino acid binding  neurotransmitter biosynthetic process  catecholamine biosynthetic process  oxidation-reduction process  extracellular exosome  
Pathways : KEGGPhenylalanine metabolism    Phenylalanine, tyrosine and tryptophan biosynthesis   
NDEx NetworkPAH
Atlas of Cancer Signalling NetworkPAH
Wikipedia pathwaysPAH
Orthology - Evolution
OrthoDB5053
GeneTree (enSembl)ENSG00000171759
Phylogenetic Trees/Animal Genes : TreeFamPAH
HOVERGENP00439
HOGENOMP00439
Homologs : HomoloGenePAH
Homology/Alignments : Family Browser (UCSC)PAH
Gene fusions - Rearrangements
Fusion: TCGAEEA1 PAH
Fusion: TCGAANAPC7 PAH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAH
dbVarPAH
ClinVarPAH
1000_GenomesPAH 
Exome Variant ServerPAH
ExAC (Exome Aggregation Consortium)PAH (select the gene name)
Genetic variants : HAPMAP5053
Genomic Variants (DGV)PAH [DGVbeta]
DECIPHERPAH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAH 
Mutations
ICGC Data PortalPAH 
TCGA Data PortalPAH 
Broad Tumor PortalPAH
OASIS PortalPAH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPAH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPAH
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PAH
DgiDB (Drug Gene Interaction Database)PAH
DoCM (Curated mutations)PAH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAH (select a term)
intoGenPAH
Cancer3DPAH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261600    612349   
Orphanet1889    20847    11280    11279    11543   
MedgenPAH
Genetic Testing Registry PAH
NextProtP00439 [Medical]
TSGene5053
GENETestsPAH
Target ValidationPAH
Huge Navigator PAH [HugePedia]
snp3D : Map Gene to Disease5053
BioCentury BCIQPAH
ClinGenPAH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5053
Chemical/Pharm GKB GenePA32911
Clinical trialPAH
Miscellaneous
canSAR (ICR)PAH (select the gene name)
Probes
Litterature
PubMed254 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAH
EVEXPAH
GoPubMedPAH
iHOPPAH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:35:26 CEST 2017

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