Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pah. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Pah
  • participates in the following biological processes:
    • oxidation-reduction process ^[1]
  • performs the following molecular functions:
    • phenylalanine 4-monooxygenase activity ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Pah:
  • participates in the following biological processes:
    • L-phenylalanine metabolic process
    • oxidation-reduction process
    • protein hydroxylation
    • pteridine-containing compound metabolic process
    • tetrahydrobiopterin metabolic process
    • tyrosine biosynthetic process
  • performs the following molecular functions:
    • amino acid binding
    • cofactor binding
    • iron ion binding
    • phenylalanine 4-monooxygenase activity
    • protein homodimerization activity

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Summary text based on GO annotations supported by structural data

• Pah encodes a protein or proteins that contain the following InterPro domains: ACT domain, Aromatic amino acid hydroxylase, Aromatic amino acid hydroxylase, C-terminal, Aromatic amino acid hydroxylase, iron/copper binding site, Phenylalanine-4-hydroxylase, tetrameric form, Tyrosine 3-monooxygenase-like, indicating that the gene product:
  • participates in the following biological processes:
    • aromatic amino acid family metabolic process
    • L-phenylalanine catabolic process
    • metabolic process
  • performs the following molecular functions:
    • monooxygenase activity
    • 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

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pah indicates that it:
  • participates in the following biological processes:
    • L-phenylalanine catabolic process
    • metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • metal ion binding
    • monooxygenase activity
    • oxidoreductase activity

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References

1. McDonald JD et al. (1990) Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc Natl Acad Sci U S A, 87:1965-7. (PubMed:2308957)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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