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

Gene ID: 16922, updated on 26-Sep-2022

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, Apr 2022]
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; 2 A1
Exon count:
9
Annotation release Status Assembly Chr Location
109 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 predicted gene 13194 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)
  • Targeted (4)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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 IDA
Inferred from Direct Assay
more info
PubMed 
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
 
enables ferrous iron binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
enables phytanoyl-CoA dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
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
PubMed 
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 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 mitochondrion HDA PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
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)

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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_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
    Q3TPC7
    Related
    ENSMUSP00000027975.8, ENSMUST00000027975.8
    Conserved Domains (1) summary
    pfam05721
    Location:61277
    PhyH; Phytanoyl-CoA dioxygenase (PhyH)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)