Version 5.4
Homo sapiens Gene: PHYH
Summary
InnateDB Gene IDBG-54885.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHYH
Gene Name phytanoyl-CoA 2-hydroxylase
Synonyms LN1; LNAP1; PAHX; PHYH1; RD
Species Homo sapiens
Ensembl Gene ENSG00000107537
Encoded Proteins
IDBP-54889
phytanoyl-CoA 2-hydroxylase
IDBP-236479
phytanoyl-CoA 2-hydroxylase
IDBP-236481
phytanoyl-CoA 2-hydroxylase
IDBP-366276
phytanoyl-CoA 2-hydroxylase
IDBP-485112
phytanoyl-CoA 2-hydroxylase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 10:13277796-13302412
Strand Reverse strand
Band p13
Transcripts
ENST00000263038 ENSP00000263038
ENST00000396920 ENSP00000380126
ENST00000396913 ENSP00000380121
ENST00000453759 ENSP00000412525
ENST00000479604 ENSP00000420117
ENST00000464049
ENST00000463730
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0009055 electron carrier activity
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:0044255 cellular lipid metabolic process
GO:0044281 small molecule metabolic process
GO:0097089 methyl-branched fatty acid metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000026664
View Gene Order
Pathways
NETPATH
REACTOME
REACT_17003
Alpha-oxidation of phytanate pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_16957
Peroxisomal lipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
hsa04146
Peroxisome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL C9IYS5
UniProt Splice Variant
Entrez Gene 5264
UniGene Hs.498732 Hs.610614
RefSeq NM_001037537 NM_006214
HUGO HGNC:8940
OMIM 602026
CCDS CCDS41489 CCDS7097
HPRD 03609
IMGT
EMBL AL138764
GenPept
RNA Seq Atlas 5264

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca