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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. PAH, phenylalanine hydroxylase
Sequence ID:NM_000277
RefSeqGene ID:NG_008690
Entrez Gene ID:5053
Ensembl ID:ENSG00000171759

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
PHENYLKETONURIA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:12q22-q24.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:12: 103248463 - 103311004

 Exon Info From UCSC:
NM_000277

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4767736Full LengthBC026251phenylalanine hydroxylase

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000268  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000277 NP_000268 P00439 EC 1.14.16.1 Biopterin_H
ACT

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
K03020 AAA60082 P00439 EC 1.14.16.1
L47726 AAA80910    
U49897 AAC51772 P00439 EC 1.14.16.1
S61296 AAD13926 P00439 EC 1.14.16.1
S61396 AAD13928 Q16021  
BC026251 AAH26251 P00439 EC 1.14.16.1
HQ447614 ADQ32100    
AK313383 BAG36181 B2R8I4  
AK298419 BAG60644 B4DPN2  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PAH NP_000268 M.musculus Pah 18478 Gene Info NP_032803 92
R.norvegicus Pah 24616   NP_036751 92
A.gambiae AgaP_AGAP005712 1276381   XP_315722 64
D.melanogaster Hn 38871   NP_523963 64
C.elegans pah-1 174401   NP_495863 59

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)