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    Phyh phytanoyl-CoA 2-hydroxylase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 114209, updated on 9-Dec-2024

    Summary

    Official Symbol
    Phyhprovided by RGD
    Official Full Name
    phytanoyl-CoA 2-hydroxylaseprovided by RGD
    Primary source
    RGD:620317
    See related
    EnsemblRapid:ENSRNOG00000018044 AllianceGenome:RGD:620317
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables phytanoyl-CoA dioxygenase activity. Involved in 2-oxobutyrate catabolic process and fatty acid alpha-oxidation. Located in peroxisome. Biomarker of metabolic dysfunction-associated steatotic liver disease. Human ortholog(s) of this gene implicated in Refsum disease; Zellweger syndrome; orofacial cleft; and peroxisomal disease. Orthologous to human PHYH (phytanoyl-CoA 2-hydroxylase). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Heart (RPKM 4214.8), Liver (RPKM 3175.7) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Phyh in Genome Data Viewer
    Location:
    17q12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (78238747..78255645, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (73329461..73346359, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (77287580..77304482, complement)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance 10 replication initiation factor Neighboring gene upper zone of growth plate and cartilage matrix associated Neighboring gene uncharacterized LOC120097916 Neighboring gene selenophosphate synthetase 1 Neighboring gene uncharacterized LOC134482743

    Genomic regions, transcripts, and products

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables L-ascorbic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables carboxylic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables catalytic activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phytanoyl-CoA dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phytanoyl-CoA dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phytanoyl-CoA dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in 2-oxobutyrate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 2-oxoglutarate metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid alpha-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fatty acid alpha-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within fatty acid alpha-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in fatty acid alpha-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in isoprenoid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in methyl-branched fatty acid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in 9+0 non-motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    phytanoyl-CoA dioxygenase, peroxisomal
    Names
    phytanic acid oxidase
    phytanoyl-CoA alpha-hydroxylase
    phytanoyl-CoA hydroxylase (Refsum disease)
    NP_446126.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_053674.2NP_446126.1  phytanoyl-CoA dioxygenase, peroxisomal precursor

      See identical proteins and their annotated locations for NP_446126.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000017
      UniProtKB/Swiss-Prot
      P57093, Q9QY64
      UniProtKB/TrEMBL
      A6JLZ6
      Related
      ENSRNOP00000024362.3, ENSRNOT00000024362.8
      Conserved Domains (1) summary
      pfam05721
      Location:61277
      PhyH; Phytanoyl-CoA dioxygenase (PhyH)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      78238747..78255645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)