Mus musculus Gene: Phyh
Summary
InnateDB Gene IDBG-133987.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Phyh
Gene Name phytanoyl-CoA hydroxylase
Synonyms AI256161; AI265699; Lnap1; PAHX
Species Mus musculus
Ensembl Gene ENSMUSG00000026664
Encoded Proteins
phytanoyl-CoA hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000107537:
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:4919019-4938730
Strand Forward strand
Band A1
Transcripts
ENSMUST00000027975 ENSMUSP00000027975
ENSMUST00000146933
ENSMUST00000128738
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0031418 L-ascorbic acid binding
GO:0046872 metal ion binding
GO:0048037 cofactor binding
GO:0048244 phytanoyl-CoA dioxygenase activity
Biological Process
GO:0001561 fatty acid alpha-oxidation
GO:0006720 isoprenoid metabolic process
GO:0097089 methyl-branched fatty acid metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005777 peroxisome
Orthologs
Species
Homo sapiens
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Metabolism pathway
Alpha-oxidation of phytanate pathway
Metabolism of lipids and lipoproteins pathway
Peroxisomal lipid metabolism pathway
KEGG
Peroxisome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Alpha-oxidation of phytanate pathway
Metabolism of lipids and lipoproteins pathway
Peroxisomal lipid metabolism pathway
Metabolism pathway
KEGG
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt O35386
TrEMBL Q3TPC7
UniProt Splice Variant
Entrez Gene 16922
UniGene Mm.391704
RefSeq NM_010726
OMIM
CCDS CCDS15660
HPRD
IMGT
MGI ID MGI:891978
MGI Symbol Phyh
EMBL AF023463 AK146753 AK164495 AK165412 AK169213 BC002018 CH466542 D88670
GenPept AAB81835 AAH02018 BAA19003 BAE27410 BAE37810 BAE38170 BAE40985 EDL07951
RNA Seq Atlas 16922