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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
    • 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)