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Tbio
PHYH
Phytanoyl-CoA dioxygenase, peroxisomal

Protein Summary
Description
Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000263038
  • ENSP00000263038
  • ENSG00000107537
  • ENST00000396913
  • ENSP00000380121

Symbol
  • PAHX
  • RD
  • LN1
  • PAHX
  • LNAP1
  • PHYH1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
1
kinase perturbation
0.98
transcription factor perturbation
0.98
molecular function
0.76
cellular component
0.73


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 373.86   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 392   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 373.86   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 392   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (79)
C6orf226
Tdark
Novelty:  4.2303719
p_int:  0.999999876
p_ni:  1.24e-7
Score:  0.68
Data Source:  BioPlex,STRINGDB
PEX7
Tbio
Novelty:  0.01487923
Score:  0.984
Data Source:  Reactome,STRINGDB
ACAA1
Tbio
Family:  Enzyme
Novelty:  0.00710465
Score:  0.973
Data Source:  STRINGDB
PEX14
Tbio
Novelty:  0.0210557
Score:  0.96
Data Source:  Reactome,STRINGDB
HACL1
Tbio
Family:  Enzyme
Novelty:  0.05302548
Score:  0.955
Data Source:  STRINGDB
SLC27A2
Tbio
Family:  Transporter
Novelty:  0.01436035
Score:  0.95
Data Source:  STRINGDB
AGPS
Tbio
Family:  Enzyme
Novelty:  0.01075549
Score:  0.948
Data Source:  STRINGDB
TYSND1
Tbio
Family:  Enzyme
Novelty:  0.16036122
Score:  0.942
Data Source:  Reactome,STRINGDB
PEX2
Tbio
Novelty:  0.01015599
Score:  0.938
Data Source:  Reactome,STRINGDB
PEX13
Tbio
Novelty:  0.01777214
Score:  0.937
Data Source:  Reactome,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (11)
Alpha-oxidation of phytanate (R-HSA-389599)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Alpha-oxidation of phytanate
Reactome
Fatty acid metabolism
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Peroxisomal lipid metabolism
Name
Explore in Pharos
Explore in Source
Alpha-oxidation of phytanate
Fatty acid metabolism
Metabolism
Metabolism of lipids
Peroxisomal lipid metabolism
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (13)
Find Similar Targets
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
CAFA
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
CAFA
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Disease Associations (null)
No disease associations found
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
3
2
3
71.6
Abdominal symptom
1
1
0
2.5
17.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
3
71.6
Abdominal symptom
0
2.5
17.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
phytanoyl-CoA 2-hydroxylase
VGNC:7248
450310
Macaque
phytanoyl-CoA 2-hydroxylase
695915
Mouse
MGI:891978
16922
Rat
RGD:620317
114209
Dog
phytanoyl-CoA hydroxylase-like
478000
Species
Name
OMA
EggNOG
Inparanoid
Chimp
phytanoyl-CoA 2-hydroxylase
Macaque
phytanoyl-CoA 2-hydroxylase
Mouse
Rat
Dog
phytanoyl-CoA hydroxylase-like
Publication Statistics
PubMed Score 373.86
PubMed score by year
PubTator Score 123.91
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title