• Gene id: 5053

Gene Summary

• Gene Symbol: PAH   Gene   UCSC   Ensembl
• Aliases: PH, PKU, PKU1
• Gene name: phenylalanine hydroxylase
• Alternate names: phenylalanine-4-hydroxylase, phe-4-monooxygenase, phenylalanine 4-monooxygenase,
• Gene location: 12q23.2 (102958440: 102836888)     Exons: 15     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 612349

Protein Summary

• Protein general information: P00439  
  • Name: Phenylalanine 4 hydroxylase (PAH) (EC 1.14.16.1) (Phe 4 monooxygenase)
  • Length: 452  
  • Mass: 51862
• Sequence:

  MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKD
  EYEFFTHLDKRSLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFK
  DPVYRARRKQFADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIP
  QLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFA
  QFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQ
  NYTVTEFQPLYYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQK
  IK

• Structural information:
  • Protein Domains: (36..11-)
    (/note="ACT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01007"-)
  • Interpro: IPR002912  IPR001273  IPR018301  IPR036951  IPR036329   IPR019774  IPR041912  IPR005961  IPR019773  
  • Prosite: PS51671 PS00367 PS51410
  • CDD: cd03347
  • PDB: 1DMW 1J8T 1J8U 1KW0 1LRM 1MMK 1MMT 1PAH 1TDW 1TG2 2PAH 3PAH 4ANP 4PAH 5FII 5PAH 6HPO 6HYC 6N1K 6PAH
  • PDBsum: 1DMW 1J8T 1J8U 1KW0 1LRM 1MMK 1MMT 1PAH 1TDW 1TG2 2PAH 3PAH 4ANP 4PAH 5FII 5PAH 6HPO 6HYC 6N1K 6PAH
  • DIP: 58927
  • STRING: ENSP00000448059
• Other Databases: GeneCards:  PAH  Malacards:  PAH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004505	phenylalanine 4-monooxygenase activity	IDA	molecular function
GO:0004505	phenylalanine 4-monooxygenase activity	IBA	molecular function
GO:0006571	tyrosine biosynthetic process	IBA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004505	phenylalanine 4-monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0009072	aromatic amino acid family metabolic process	IEA	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004505	phenylalanine 4-monooxygenase activity	TAS	molecular function
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0004505	phenylalanine 4-monooxygenase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006559	L-phenylalanine catabolic process	TAS	biological process
GO:0004505	phenylalanine 4-monooxygenase activity	IEA	molecular function
GO:0042136	neurotransmitter biosynthetic process	NAS	biological process
GO:0042423	catecholamine biosynthetic process	NAS	biological process
GO:0006559	L-phenylalanine catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00790	Folate biosynthesis
hsa00360	Phenylalanine metabolism
hsa00400	Phenylalanine, tyrosine and tryptophan biosynthesis

Diseases

Associated diseases	References
Phenylketonuria	KEGG:H00167
Phenylketonuria	KEGG:H00167
Intellectual disability	PMID:14654659
Phenylketonuria	PMID:8829656
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R