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

• O14832
• A8MTS8
• B1ALH5

Gene Name

• PHYH

Ensembl ID

• ENST00000263038
• ENSP00000263038
• ENSG00000107537
• ENST00000396913
• ENSP00000380121

Symbol

• PAHX
• RD
• LN1
• PAHX
• LNAP1
• PHYH1

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

Related Tools

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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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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: 362.9   (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: 362.9   (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

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	phytanoyl-CoA hydroxylase	MGI:891978	16922
Rat	phytanoyl-CoA 2-hydroxylase	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	phytanoyl-CoA hydroxylase
Rat	phytanoyl-CoA 2-hydroxylase
Dog	phytanoyl-CoA hydroxylase-like

Protein Structure (1 Structure, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O14832-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (11)

Reactome (8)

KEGG (1)

PathwayCommons (1)

UniProt (1)

Alpha-oxidation of phytanate (R-HSA-389599)

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Find Similar Targets

Items per page:

5

1 – 5 of 8

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Alpha-oxidation of phytanate	6 targets	R-HSA-389599
Reactome	Fatty acid metabolism	176 targets	R-HSA-8978868
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of lipids	740 targets	R-HSA-556833
Reactome	Peroxisomal lipid metabolism	29 targets	R-HSA-390918

Name	Explore in Pharos	Explore in Source
Alpha-oxidation of phytanate	6 targets	R-HSA-389599
Fatty acid metabolism	176 targets	R-HSA-8978868
Metabolism	2112 targets	R-HSA-1430728
Metabolism of lipids	740 targets	R-HSA-556833
Peroxisomal lipid metabolism	29 targets	R-HSA-390918

Gene Ontology Terms (13)

Functions (5)

Components (3)

Processes (5)

Find Similar Targets

Items per page:

10

1 – 5 of 5

GO Term	Evidence	Assigned by
carboxylic acid binding	Inferred from Direct Assay (IDA)	CAFA
cofactor binding	Inferred from Direct Assay (IDA)	UniProtKB
ferrous iron binding	Inferred from Direct Assay (IDA)	CAFA
phytanoyl-CoA dioxygenase activity	Inferred from Direct Assay (IDA)	UniProtKB
L-ascorbic acid binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (79)

Explore Interacting Targets

1 – 10 of 79

• See Interactions on String-DB

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

Publication Statistics

PubMed Score  362.90

PubMed score by year

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PubTator Score  123.91

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Cataract
Complete proteome
Deafness
Dioxygenase
Disease mutation
Ichthyosis
Iron
Metal-binding

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adipose tissue phenotype
behavior/neurological phenotype
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homeostasis/metabolism phenotype
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