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

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, Nov 2024]
Expression: Broad expression in liver adult (RPKM 350.9), heart adult (RPKM 225.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI256161 (e-PCR)
- UniSTS:178560

AI265699 (e-PCR)
- UniSTS:158913

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 more info	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

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Preferred Names: phytanoyl-CoA dioxygenase, peroxisomal

Names: lupus nephritis-associated peptide 1; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase

NP_034856.1

EC 1.14.11.18

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.