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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 rhizom... See more...
Aliases for PHYH Gene
Aliases for PHYH Gene
External Ids for PHYH Gene
- HGNC: 8940
- Entrez Gene: 5264
- Ensembl: ENSG00000107537
- OMIM: 602026
- UniProtKB: O14832
Previous GeneCards Identifiers for PHYH Gene
- GC10M013302
- GC10M013470
- GC10M013323
- GC10M013359
- GC10M013319
- GC10M013232
Summaries for PHYH Gene
-
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]
GeneCards Summary for PHYH Gene
PHYH (Phytanoyl-CoA 2-Hydroxylase) is a Protein Coding gene. Diseases associated with PHYH include Refsum Disease, Classic and Retinitis Pigmentosa. Among its related pathways are Peroxisomal lipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity and cofactor binding.
UniProtKB/Swiss-Prot Summary for PHYH Gene
-
Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223).
Additional gene information for PHYH Gene
- HGNC(8940)
- Entrez Gene(5264)
- Ensembl(ENSG00000107537)
- OMIM(602026)
- UniProtKB(O14832)
- Open Targets Platform(ENSG00000107537)
- Monarch Initiative
- Search for PHYH at DataMed
- Search for PHYH at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHYH Gene
Genomics for PHYH Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PHYH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PHYH on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHYH
- Top Transcription factor binding sites by QIAGEN in the PHYH gene promoter:
-
- Evi-1
- Lhx3a
- LHX3b
- POU3F2
- STAT3
Genomic Locations for PHYH Gene
Genomic Locations for PHYH Gene
- chr10:13,277,796-13,302,412
- (GRCh38/hg38)
- Size:
- 24,617 bases
- Orientation:
- Minus strand
- chr10:13,319,796-13,344,412
- (GRCh37/hg19)
- Size:
- 24,617 bases
- Orientation:
- Minus strand
Genomic View for PHYH Gene
Genes around PHYH on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by HGNC
- 10p13 by Entrez Gene
- 10p13 by Ensembl
PHYH Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PHYH Gene
Proteins for PHYH Gene
-
Protein details for PHYH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14832-PAHX_HUMAN
- Recommended name:
- Phytanoyl-CoA dioxygenase, peroxisomal
- Protein Accession:
- O14832
- A8MTS8
- B1ALH5
Protein attributes for PHYH Gene
- Size:
- 338 amino acids
- Molecular mass:
- 38538 Da
- Cofactor:
- Name=Fe cation; Xref=ChEBI:CHEBI:24875;
- Cofactor:
- Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
- Cofactor:
- Name=ATP; Xref=ChEBI:CHEBI:30616;
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Interacts with FKBP52 (PubMed:10051602). Interacts with PHYHIP.
Protein Expression for PHYH Gene
Selected DME Specific Peptides for PHYH Gene
- O14832:
-
- GFRKAISCH
- YPKWEGGVNK
- MLINKPPD
- RNNGCLVVLPGTHKG
Post-translational modifications for PHYH Gene
Other Protein References for PHYH Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PHYH
-
Abcam antibodies for PHYH
- Invitrogen Antibodies for PHYH (AFLGC-Phyh)
-
Boster Bio Antibodies for PHYH
-
Santa Cruz Biotechnology (SCBT) Antibodies for PHYH
- Sino Biological Antibodies for PHYH
Protein Products
-
OriGene Purified Proteins for PHYH
- Search Origene for MassSpec and Protein Over-expression Lysates for PHYH
- Origene Custom Protein Services for PHYH
- Sino Biological Recombinant Proteins for PHYH
- Browse Sino Biological Cell Lysates
-
Abcam proteins for PHYH
Domains & Families for PHYH Gene
Gene Families for PHYH Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PHYH Gene
- InterPro:
- Blocks:
-
- Phytanoyl-CoA dioxygenase
- ProtoNet:
Suggested Antigen Peptide Sequences for PHYH Gene
- GenScript: Design optimal peptide antigens:
-
- Phytanoyl-CoA 2-hydroxylase (B1ALH4_HUMAN)
- Phytanoyl-CoA alpha-hydroxylase (PAHX_HUMAN)
- PHYH protein (Q6FGQ2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O14832- Family:
-
- Belongs to the PhyH family.
Function for PHYH Gene
Molecular function for PHYH Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + O2 + phytanoyl-CoA = 2-hydroxyphytanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:16065, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57334, ChEBI:CHEBI:57391; EC=1.14.11.18; Evidence={ECO:0000269|PubMed:10767344, ECO:0000269|PubMed:12031666, ECO:0000269|PubMed:9326939};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + 3-methylhexadecanoyl-CoA + O2 = 2-hydroxy-3-methylhexadecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:44000, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:58784, ChEBI:CHEBI:83969; Evidence={ECO:0000269|PubMed:10744784, ECO:0000269|PubMed:12923223};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + hexadecanoyl-CoA + O2 = 2-hydroxyhexadecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54596, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57379, ChEBI:CHEBI:74115; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + O2 + octanoyl-CoA = 2-hydroxyoctanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54600, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57386, ChEBI:CHEBI:138290; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + decanoyl-CoA + O2 = 2-hydroxydecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54604, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:61430, ChEBI:CHEBI:138292; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + 3-methylbutanoyl-CoA + O2 = 2-hydroxy-3-methylbutanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54612, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57345, ChEBI:CHEBI:138296; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + heptadecanoyl-CoA + O2 = 2-hydroxyheptadecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54616, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:74307, ChEBI:CHEBI:138297; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + eicosanoyl-CoA + O2 = 2-hydroxyeicosanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54620, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57380, ChEBI:CHEBI:138298; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + O2 + octadecanoyl-CoA = 2-hydroxyoctadecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54624, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57394, ChEBI:CHEBI:74116; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + dodecanoyl-CoA + O2 = 2-hydroxydodecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54628, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57375, ChEBI:CHEBI:138299; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + O2 + tetradecanoyl-CoA = 2-hydroxytetradecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:54632, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57385, ChEBI:CHEBI:138300; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + hexanoyl-CoA + O2 = 2-hydroxyhexanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:55172, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:62620, ChEBI:CHEBI:138630; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + butanoyl-CoA + O2 = 2-hydroxybutanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:55176, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:57371, ChEBI:CHEBI:138628; Evidence={ECO:0000269|PubMed:12031666};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + 3-methylnonanoyl-CoA + O2 = 2-hydroxy-3-methylnonanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:55180, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:138633, ChEBI:CHEBI:138634; Evidence={ECO:0000269|PubMed:12923223};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + 3-methylundecanoyl-CoA + O2 = 2-hydroxy-3-methylundecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:55184, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:84183, ChEBI:CHEBI:138632; Evidence={ECO:0000269|PubMed:12923223};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + 3-methyldodecanoyl-CoA + O2 = 2-hydroxy-3-methyldodecanoyl-CoA + CO2 + succinate; Xref=Rhea:RHEA:55192, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:138636, ChEBI:CHEBI:138637; Evidence={ECO:0000269|PubMed:12923223};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=40.8 uM for 3-methylhexadecanoyl-CoA {ECO:0000269|PubMed:12923223}; KM=29.5 uM for phytanoyl-CoA (in presence of SCP2) {ECO:0000269|PubMed:12031666}; KM=29.1 uM for hexadecanoyl-CoA (in presence of SCP2) {ECO:0000269|PubMed:12031666};
- GENATLAS Biochemistry:
- phytanoyl-CoA hydroxylase,41.2kDa,FKBP-associated protein,containing a cleavable peroxisomal targetting signal type 2 (PTS2)
Enzyme Numbers (IUBMB) for PHYH Gene
Phenotypes From GWAS Catalog for PHYH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 9326939 |
| GO:0008198 | ferrous iron binding | IDA | 9326939 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0031406 | carboxylic acid binding | IDA | 16186124 |
Phenotypes for PHYH Gene
- MGI mutant phenotypes for PHYH:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PHYH:
Animal Models for PHYH Gene
- MGI Knock Outs for PHYH:
-
- Phyh Phyh<tm1Safe>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHYH - Select products 50% OFF >
- * PHYH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHYH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHYH
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHYH
miRNA for PHYH Gene
- miRTarBase miRNAs that target PHYH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHYH
- Browse OriGene Inhibitory RNA Products For PHYH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYH
Clone Products
- Applied Biological Materials (abm): Clones for PHYH - Select products 50% OFF >
- * PHYH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHYH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHYH
Cell Line Products
-
Horizon Cell Lines for PHYH
No data available for Transcription Factor Targets and HOMER Transcription for PHYH Gene
Localization for PHYH Gene
Subcellular locations from UniProtKB/Swiss-Prot for PHYH Gene
- Peroxisome.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| mitochondrion | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005777 | peroxisome | IEA,IDA | 9326939 |
| GO:0005782 | peroxisomal matrix | TAS | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHYH Gene
Pathways & Interactions for PHYH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peroxisomal lipid metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Peroxisome | ||
Pathways by source for PHYH Gene
1 BioSystems pathway for PHYH Gene
4 Reactome pathways for PHYH Gene
1 KEGG pathway for PHYH Gene
UniProtKB/Swiss-Prot O14832-PAHX_HUMAN
- Pathway: Lipid metabolism; fatty acid metabolism.
Interacting Proteins for PHYH Gene
Selected Interacting proteins:
O14832-PAHX_HUMAN
ENSP00000263038
for PHYH Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PHYH
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001561 | fatty acid alpha-oxidation | TAS | -- |
| GO:0006103 | 2-oxoglutarate metabolic process | IDA | 16186124 |
| GO:0006625 | protein targeting to peroxisome | TAS | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006720 | isoprenoid metabolic process | IDA | 11555634 |
No data available for SIGNOR curated interactions for PHYH Gene
Drugs & Compounds for PHYH Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Vitamin C | Approved | Nutra | Target, cofactor | 748,748 | ||
| Iron | Approved, Experimental | Pharma | 1560 | |||
| Antihemophilic factor, human recombinant | Approved, Investigational | Pharma | Target, antagonist | 0 | ||
| Lonoctocog alfa | Approved, Investigational | Pharma | Target, antagonist | 0 | ||
| Moroctocog alfa | Approved | Pharma | Target, antagonist | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 2-hydroxyphytanoyl-CoA |
|
172787-73-4 | ||||
| Phytanoyl-CoA |
|
146622-45-9 |
|
Transcripts for PHYH Gene
mRNA/cDNA for PHYH Gene
- 6 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263038 1541 nts (view in UCSC)
- ENST00000396913 1732 nts (view in UCSC)
- ENST00000396920 1829 nts (view in UCSC)
- ENST00000453759 883 nts (view in UCSC)
- ENST00000463730 568 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PHYH - Select products 50% OFF >
- * PHYH CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PHYH
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHYH
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHYH
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PHYH
- Browse OriGene Inhibitory RNA Products For PHYH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYH
Clone Products
- Applied Biological Materials (abm): Clones for PHYH - Select products 50% OFF >
- * PHYH as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PHYH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHYH
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | - |
Relevant External Links for PHYH Gene
- GeneLoc Exon Structure for
- PHYH
Expression for PHYH Gene
mRNA differential expression in normal tissues according to GTEx for PHYH Gene
This gene is overexpressed in Muscle - Skeletal (x7.9) and Liver (x6.2).
This gene is overexpressed in Gallbladder (34.2), Liver (15.1), and Fetal Liver (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PHYH Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHYH
SOURCE GeneReport for Unigene cluster for PHYH Gene:
Hs.498732mRNA Expression by UniProt/SwissProt for PHYH Gene:
O14832-PAHX_HUMAN
Tissue specificity:
Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.
Evidence on tissue expression from TISSUES for PHYH Gene
- Liver(4.6)
- Nervous system(4.5)
- Kidney(2.9)
- Muscle(2.9)
- Heart(2.7)
- Skin(2.5)
- Lymph node(2.4)
- Stomach(2.4)
- Adrenal gland(2.2)
- Lung(2.2)
- Thyroid gland(2.2)
- Blood(2.1)
- Intestine(2.1)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PHYH Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- meninges
- neck
- nose
- olfactory bulb
Thorax:
- clavicle
- heart
- heart valve
- lung
Abdomen:
- spleen
Limb:
- arm
- digit
- femur
- fibula
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- shin
- thigh
- tibia
- toe
- ulna
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for PHYH
-
OriGene qPCR primer pairs and template standards for PHYH
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for PHYH Gene
Orthologs for PHYH Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PHYH 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PHYH 30 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | LOC478000 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Phyh 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Phyh 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | PHYH 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PHYH 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PHYH 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | phyh 30 |
|
||
| Str.15015 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17548 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | phyh 30 31 |
|
OneToMany | |
| PHYH (2 of 2) 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_ZK550.6 30 |
|
||
| ZK550.6 31 |
|
OneToMany | |||
| ZK550.5 31 32 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4002 30 |
|
- Species where no ortholog for PHYH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PHYH Gene
- ENSEMBL:
- Gene Tree for PHYH (if available)
- TreeFam:
- Gene Tree for PHYH (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PHYH: view image
Paralogs for PHYH Gene
No data available for Paralogs for PHYH Gene
Variants for PHYH Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHYH Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 722686 | Likely Benign: not provided | 13,294,452(-) | G/A | SYNONYMOUS_VARIANT | |
| 723196 | Likely Benign: not provided | 13,278,363(-) | A/G | INTRON_VARIANT | |
| 726787 | Likely Benign: not provided | 13,281,066(-) | G/A | SYNONYMOUS_VARIANT | |
| 730693 | Likely Benign: not provided | 13,294,482(-) | C/T | SYNONYMOUS_VARIANT | |
| 744155 | Likely Benign: not provided | 13,298,180(-) | T/G | INTRON_VARIANT |
Residual Variation Intolerance Score:
69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.55;
64.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PHYH Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHYH Gene
Disorders for PHYH Gene
(28) MalaCards diseases for PHYH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| refsum disease, classic |
|
|
| retinitis pigmentosa |
|
|
| inherited retinal disorder |
|
|
| fundus dystrophy |
|
|
| rhizomelic chondrodysplasia punctata |
|
Search PHYH in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PAHX_HUMAN- Refsum disease (RD) [MIM:266500]: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. {ECO:0000269 PubMed:10709665, ECO:0000269 PubMed:10767344, ECO:0000269 PubMed:14974078, ECO:0000269 PubMed:9326939, ECO:0000269 PubMed:9326940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for PHYH
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for PHYH Gene
Publications for PHYH Gene
- Identification of PAHX, a Refsum disease gene. (PMID: 9326939) Mihalik SJ … Gould SJ (Nature genetics 1997) 2 3 4 23
- Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (PMID: 16186124) McDonough MA … Schofield CJ (The Journal of biological chemistry 2005) 3 4 23
- Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (PMID: 14974078) Jansen GA … Wanders RJ (Human mutation 2004) 3 4 23
- Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease? (PMID: 12923223) Foulon V … Van Veldhoven PP (Journal of lipid research 2003) 3 4 23
- Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-coAs and requirement for GTP or ATP and Mg(2+) in addition to its known hydroxylation cofactors. (PMID: 10744784) Croes K … Mannaerts GP (Journal of lipid research 2000) 3 4 23
ExternalLinks
Products for PHYH Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
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- Origene Custom Protein Services for PHYH
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- Browse OriGene miRNA Products For PHYH
- Sino Biological Human cDNA Clone for PHYH
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- Novus Biologicals proteins and lysates for PHYH
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- VectorBuilder Virus packaging for PHYH CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PHYH
- antibodies-online: Show 55 available PHYH Antibodies ranked by validation data
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- antibodies-online: Search results for available PHYH related products ranked by validation data
- antibodies-online: Show 7 available PHYH Proteins ranked by validation data
- Compare Top PHYH Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for PHYH
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- Santa Cruz Biotechnology (SCBT) CRISPR for PHYH
- Horizon Cell Lines for PHYH
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PHYH
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PHYH
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PHYH
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYH
- Boster Bio Antibodies for PHYH
- Browse Boster Bio ELISA Kits
Sources for PHYH Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB