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    Phyh phytanoyl-CoA hydroxylase [ Mus musculus (house mouse) ]

    Gene ID: 16922, updated on 9-Dec-2024

    Summary

    Official Symbol
    Phyhprovided by MGI
    Official Full Name
    phytanoyl-CoA hydroxylaseprovided by MGI
    Primary source
    MGI:MGI:891978
    See related
    Ensembl:ENSMUSG00000026664 AllianceGenome:MGI:891978
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PAHX; Lnap1
    Summary
    Enables catalytic activity. Acts upstream of or within fatty acid alpha-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; liver; and respiratory system. Used to study Refsum 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
    Broad expression in liver adult (RPKM 350.9), heart adult (RPKM 225.3) and 18 other tissues See more
    Orthologs
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    Genomic context

    See Phyh in Genome Data Viewer
    Location:
    2 A1; 2 3.06 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (4923807..4943554)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (4918996..4938743)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene selenophosphate synthetase 1 Neighboring gene predicted gene, 46728 Neighboring gene STARR-positive B cell enhancer ABC_E9503 Neighboring gene STARR-seq mESC enhancer starr_03549 Neighboring gene predicted gene 13194 Neighboring gene STARR-seq mESC enhancer starr_03550 Neighboring gene acyl-CoA-binding protein pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ferrous iron binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables phytanoyl-CoA dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in 2-oxobutyrate catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 2-oxobutyrate catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in 2-oxoglutarate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    acts_upstream_of_or_within fatty acid alpha-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fatty acid alpha-oxidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in isoprenoid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in isoprenoid metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in methyl-branched fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in peroxisome TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    phytanoyl-CoA dioxygenase, peroxisomal
    Names
    lupus nephritis-associated peptide 1
    phytanic acid oxidase
    phytanoyl-CoA alpha-hydroxylase
    NP_034856.1

    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_010726.2NP_034856.1  phytanoyl-CoA dioxygenase, peroxisomal precursor

      See identical proteins and their annotated locations for NP_034856.1

      Status: VALIDATED

      Source sequence(s)
      AK146753, BY139974, BY369819
      Consensus CDS
      CCDS15660.1
      UniProtKB/Swiss-Prot
      O08527, O35386
      UniProtKB/TrEMBL
      Q3TGP3, Q3TPC7
      Related
      ENSMUSP00000027975.8, ENSMUST00000027975.8
      Conserved Domains (1) summary
      pfam05721
      Location:61277
      PhyH; Phytanoyl-CoA dioxygenase (PhyH)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      4923807..4943554
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)