Description: Homo sapiens phenylalanine hydroxylase (PAH), mRNA. RefSeq Summary (NM_000277): 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 of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]. Transcript (Including UTRs) Position: hg19 chr12:103,248,464-103,311,381 Size: 62,918 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr12:103,248,816-103,310,908 Size: 62,093 Coding Exon Count: 6
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PAH CDC HuGE Published Literature: PAH Positive Disease Associations: phenylketonuria Related Studies:
phenylketonuria Hertzberg M et al. 1989, Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria., American journal of human genetics. 1989 Mar;44(3):382-7.
[PubMed 2563633]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B4DPN2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0005506 iron ion binding 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
Biological Process: GO:0009072 aromatic amino acid family metabolic process GO:0055114 oxidation-reduction process
Descriptions from all associated GenBank mRNAs
AX512666 - Sequence 1 from Patent WO02063043. LV472803 - JP 2016535729-A/1: MRNA THERAPY FOR PHENYLKETONURIA. U49897 - Homo sapiens phenylalanine hydroxylase (PAH) mRNA, complete cds. K03020 - Human phenylalanine hydroxylase mRNA, complete cds. L47726 - Homo sapiens phenylalanine hydroxylase (PAH) mutant Q20stop mRNA. BC026251 - Homo sapiens phenylalanine hydroxylase, mRNA (cDNA clone MGC:22457 IMAGE:4767736), complete cds. AK313383 - Homo sapiens cDNA, FLJ93916, highly similar to Homo sapiens phenylalanine hydroxylase (PAH), mRNA. HQ447614 - Synthetic construct Homo sapiens clone IMAGE:100070960; CCSB013103_01 phenylalanine hydroxylase (PAH) gene, encodes complete protein. KJ897291 - Synthetic construct Homo sapiens clone ccsbBroadEn_06685 PAH gene, encodes complete protein. KR711255 - Synthetic construct Homo sapiens clone CCSBHm_00021550 PAH (PAH) mRNA, encodes complete protein. KR711256 - Synthetic construct Homo sapiens clone CCSBHm_00021594 PAH (PAH) mRNA, encodes complete protein. KR711257 - Synthetic construct Homo sapiens clone CCSBHm_00021717 PAH (PAH) mRNA, encodes complete protein. KR711258 - Synthetic construct Homo sapiens clone CCSBHm_00021904 PAH (PAH) mRNA, encodes complete protein. AK298419 - Homo sapiens cDNA FLJ56667 complete cds, highly similar to Phenylalanine-4-hydroxylase (EC 1.14.16.1). CU693178 - Synthetic construct Homo sapiens gateway clone IMAGE:100022295 5' read PAH mRNA. MP429740 - Sequence 1 from Patent EP3574923. JD103669 - Sequence 84693 from Patent EP1572962. JD101063 - Sequence 82087 from Patent EP1572962. JD126566 - Sequence 107590 from Patent EP1572962. JD437747 - Sequence 418771 from Patent EP1572962. JD143279 - Sequence 124303 from Patent EP1572962. JD123159 - Sequence 104183 from Patent EP1572962. JD416798 - Sequence 397822 from Patent EP1572962. JD201829 - Sequence 182853 from Patent EP1572962. JD435535 - Sequence 416559 from Patent EP1572962. JD114555 - Sequence 95579 from Patent EP1572962. JD467824 - Sequence 448848 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00360 - Phenylalanine metabolism hsa00400 - Phenylalanine, tyrosine and tryptophan biosynthesis hsa01100 - Metabolic pathways