PHYH
Phytanoyl-CoA dioxygenase, peroxisomal
Protein Summary
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]
- ENST00000263038
- ENSP00000263038
- ENSG00000107537
- ENST00000396913
- ENSP00000380121
- PAHX
- RD
- LN1
- PAHX
- LNAP1
- PHYH1
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
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (79)
C6orf226
Novelty: 4.2303719
p_int: 0.999999876
p_ni: 1.24e-7
Score: 0.68
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (11)
Reactome (8)
KEGG (1)
PathwayCommons (1)
UniProt (1)
Click on a row in the table to change the structure displayed.
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)
Gene Ontology Terms (13)
Functions (5)
Components (3)
Processes (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 ()
GWAS Traits (2)
Items per page:
1 – 2 of 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 | ||||
Items per page:
1 – 2 of 2
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
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
Related Publications
Text Mined References (35)
GeneRif Annotations (7)
Items per page:
0 of 0
PMID | Year | Title |
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