AutismKB 2.0

Annotation Details for PAH


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Basic Information Top
Gene Symbol:PAH ( PH,PKU,PKU1 )
Gene Full Name: phenylalanine hydroxylase
Band: 12q23.2
Quick LinksEntrez ID:5053; OMIM: 612349; Uniprot ID:PH4H_HUMAN; ENSEMBL ID: ENSG00000171759; HGNC ID: 8582
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0004505EXP-phenylalanine 4-monooxygenase activity9642259
GO:0004505IDA-phenylalanine 4-monooxygenase activity20667834
GO:0005506IEA-iron ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006559IEA-L-phenylalanine catabolic process-
GO:0006559TAS-L-phenylalanine catabolic process-
GO:0008652TAS-cellular amino acid biosynthetic process3856322
GO:0042136NAS-neurotransmitter biosynthetic process2872999
GO:0042423NAS-catecholamine biosynthetic process2872999
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PAHPAH1110909642259 11461190 Co-crystal Structure; Two-hybrid
PCBD1PAH11109011461190 Two-hybrid
PCBD1PAH11112511461190 Two-hybrid
QDPRPAH11179811461190 Two-hybrid
QDPRPAH11109011461190 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
PAHPAH_IVS7nt282, PAH_IVS7nt332, PAH_IVS7nt791, PAH_K274E, PAH_L321L, PAH_N426N, rs1042503, rs10778209, rs10860935, rs1126758, rs12312872, rs12425434, rs1522296, rs1522305, rs1722387, rs1722392, rs1801153, rs2037639, rs2245360, rs772897, rs937476 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:97473
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-031006-2'