PAH phenylalanine hydroxylase [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: PAHprovided by VGNC
Official Full Name: phenylalanine hydroxylaseprovided by VGNC
Primary source: VGNC:VGNC:32554
See related: BGD:BT23260; Ensembl:ENSBTAG00000012794
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	5	NC_037332.1 (66613426..66703628, complement)

Chromosome 5 - NC_037332.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037332.1 Chromosome 5 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Non-responsiveness to 20 mg/kg BH4 was observed in a single patient who was compound heterozygous for the novel mutation R176P (c.527G>C) and the common nullmutation P281L.
Title: Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

Submit: New GeneRIF Correction

General gene information

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Markers

PAH (e-PCR), detects polymorphism
- UniSTS:266309

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables iron ion binding	IEA Inferred from Electronic Annotation more info	PubMed
enables phenylalanine 4-monooxygenase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in tyrosine biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: phenylalanine-4-hydroxylase

Names: phe-4-monooxygenase

NP_001039523.1

EC 1.14.16.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001046058.2 → NP_001039523.1 phenylalanine-4-hydroxylase

See identical proteins and their annotated locations for NP_001039523.1

Status: PROVISIONAL

Source sequence(s)

BC112633

UniProtKB/Swiss-Prot

A5D9G6, Q2KIH7

UniProtKB/TrEMBL

A0A3Q1M4Y8

Related

ENSBTAP00000016999.7, ENSBTAT00000016999.7

Conserved Domains (1) summary

cl01244
Location:20 → 451

arom_aa_hydroxylase; Biopterin-dependent aromatic amino acid hydroxylase; a family of non-heme, iron(II)-dependent enzymes that includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH), eukaryotic tyrosine hydroxylase (TyrOH) and eukaryotic tryptophan ...