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pah phenylalanine hydroxylase [ Danio rerio (zebrafish) ]

Gene ID: 378962, updated on 2-Nov-2024

Summary

Official Symbol
pahprovided by ZNC
Official Full Name
phenylalanine hydroxylaseprovided by ZNC
Primary source
ZFIN:ZDB-GENE-031006-2
See related
Ensembl:ENSDARG00000020143 AllianceGenome:ZFIN:ZDB-GENE-031006-2
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Danio rerio
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as
cb877; zgc:65981; wu:fb02f10
Summary
Predicted to enable phenylalanine 4-monooxygenase activity. Acts upstream of or within cellular response to estrogen stimulus. Is expressed in several structures, including digestive system; epidermis; eye; optic vesicle; and periderm. Human ortholog(s) of this gene implicated in intellectual disability and phenylketonuria. Orthologous to human PAH (phenylalanine hydroxylase). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
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Genomic context

See pah in Genome Data Viewer
Location:
chromosome: 4
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCz11 (GCF_000002035.6) 4 NC_007115.7 (17391680..17409367, complement)
105 previous assembly GRCz10 (GCF_000002035.5) 4 NC_007115.6 (17402704..17420391, complement)

Chromosome 4 - NC_007115.7Genomic Context describing neighboring genes Neighboring gene nucleoporin 37 Neighboring gene PARP1 binding protein Neighboring gene pro-melanin-concentrating hormone Neighboring gene tyrosine hydroxylase 2 Neighboring gene uncharacterized LOC101884203 Neighboring gene achaete-scute family bHLH transcription factor 1a

Genomic regions, transcripts, and products

Expression

  • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
  • BioProject: PRJEB1986
  • Analysis date: Fri Dec 8 19:48:10 2017

Pathways from PubChem

General gene information

Markers

Clone Names

  • MGC65981

General protein information

Preferred Names
phenylalanine-4-hydroxylase
NP_956845.1

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)

  1. NM_200551.1NP_956845.1  phenylalanine-4-hydroxylase

    See identical proteins and their annotated locations for NP_956845.1

    Status: PROVISIONAL

    Source sequence(s)
    BC056537
    UniProtKB/TrEMBL
    Q6PHI7
    Related
    ENSDARP00000012808.6, ENSDART00000011943.7
    Conserved Domains (3) summary
    TIGR01268
    Location:20449
    Phe4hydrox_tetr; phenylalanine-4-hydroxylase, tetrameric form
    cd04931
    Location:19108
    ACT_PAH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, phenylalanine hydroxylases (PAH)
    pfam00351
    Location:117447
    Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

  1. NC_007115.7 Reference GRCz11 Primary Assembly

    Range
    17391680..17409367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)