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

  • Phytanoyl-CoA 2-Hydroxylase 2 3 5
  • PAHX 2 3 4
  • Phytanoyl-CoA Dioxygenase, Peroxisomal 3 4
  • Phytanoyl-CoA Alpha-Hydroxylase 3 4
  • Phytanic Acid Oxidase 3 4
  • EC 1.14.11.18 4 51
  • PHYH1 2 3
  • RD 2 3
  • Phytanoyl-CoA Hydroxylase (Refsum Disease) 2
  • Phytanoyl-CoA 2 Oxoglutarate Dioxygenase 3
  • Phytanoil-CoA Alpha Hydroxylase 3
  • Phytanoyl-CoA Dioxygenase 2
  • Phytanoyl-CoA Hydroxylase 2
  • Refsum Disease 2
  • LNAP1 3
  • PHYH 5
  • PhyH 4
  • LN1 3

External Ids for PHYH Gene

Previous GeneCards Identifiers for PHYH Gene

  • GC10M013302
  • GC10M013470
  • GC10M013323
  • GC10M013359
  • GC10M013319
  • GC10M013232

Summaries for PHYH Gene

Entrez Gene Summary 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).

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J013298 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 633.1 +1.4 1431 4.4 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 PRDM10 ZNF629 PHYH lnc-SEPHS1-1 lnc-MCM10-4 SEPHS1 ENSG00000239665 UCMA
GH10J013345 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 25.3 -46.7 -46693 7.4 RNF2 CTCF TEAD4 PRDM10 ZNF629 REST IKZF1 ZNF692 FOXA1 LARP7 SEPHS1 lnc-MCM10-5 PHYH BTBD7P1 PRPF18 ENSG00000273474 lnc-PHYH-2 hsa-miR-5095-037 BEND7
GH10J013337 Promoter/Enhancer 1.1 Ensembl ENCODE 26.3 -37.0 -37041 3.9 SP1 PRDM10 PRDM1 TCF12 IKZF2 RCOR1 POLR2A ZNF600 SCRT2 SIN3A PHYH RF00017-593 SEPHS1 lnc-PHYH-2
GH10J013219 Enhancer 0.8 Ensembl ENCODE 26.2 +82.3 82311 1 CTCF TEAD4 JUND REST HDAC1 MGA HMBOX1 CTBP1 SMC3 TEAD1 PHYH RNU6-1-001 RNU6-6P UCMA MCM10
GH10J013329 Enhancer 0.3 dbSUPER 22.5 -27.7 -27662 1.3 POLR2A GLIS1 piR-31534-050 PHYH SEPHS1 RBISP1
- 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:
PHYH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHYH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for PHYH Gene

    Alternative splice isoforms for PHYH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHYH Gene

Selected DME Specific Peptides for PHYH Gene

O14832:
  • GFRKAISCH
  • YPKWEGGVNK
  • MLINKPPD
  • RNNGCLVVLPGTHKG

Post-translational modifications for PHYH Gene

  • Ubiquitination at Lys108 and Lys310
  • Modification sites at PhosphoSitePlus

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

UniProtKB/Swiss-Prot:

PAHX_HUMAN :
  • Belongs to the PhyH family.
Family:
  • Belongs to the PhyH family.
genes like me logo Genes that share domains with PHYH: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with PHYH: view
genes like me logo Genes that share phenotypes with PHYH: view

Human Phenotype Ontology for PHYH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHYH Gene

MGI Knock Outs for PHYH:
  • Phyh Phyh<tm1Safe>

Animal Model Products

CRISPR Products

miRNA for PHYH Gene

miRTarBase miRNAs that target PHYH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHYH gene
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

Gene Ontology (GO) - Cellular Components for PHYH Gene

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 --
genes like me logo Genes that share ontologies with PHYH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PHYH Gene

Pathways & Interactions for PHYH Gene

genes like me logo Genes that share pathways with PHYH: view

Pathways by source for PHYH Gene

1 KEGG pathway for PHYH Gene

UniProtKB/Swiss-Prot O14832-PAHX_HUMAN

  • Pathway: Lipid metabolism; fatty acid metabolism.

Gene Ontology (GO) - Biological Process for PHYH Gene

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
genes like me logo Genes that share ontologies with PHYH: view

No data available for SIGNOR curated interactions for PHYH Gene

Drugs & Compounds for PHYH Gene

(10) Drugs for PHYH Gene - From: DrugBank, HMDB, and Novoseek

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

(7) Additional Compounds for PHYH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-hydroxyphytanoyl-CoA
  • (3S)-2-Hydroxyphytanoyl-CoA
  • (3S)-2-Hydroxyphytanoyl-coenzyme A
  • (3S,7R,11R)-2-Hydroxy-3,7,11,15-tetramethylhexadecanoyl-CoA
  • (3S,7R,11R)-2-Hydroxy-3,7,11,15-tetramethylhexadecanoyl-coenzyme A
  • 2-Hydroxyphytanoyl-coenzyme A
172787-73-4
Phytanoyl-CoA
  • 3,7,11,15-Tetramethyl hexadecanoyl CoA
  • 3,7,11,15-Tetramethyl hexadecanoyl coenzyme A
  • Phytanoyl CoA
  • Phytanoyl coenzyme A
  • Phytanoyl-coenzyme A
146622-45-9
genes like me logo Genes that share compounds with PHYH: view

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHYH

Alternative Splicing Database (ASD) splice patterns (SP) for PHYH Gene

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 expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Protein differential expression in normal tissues from HIPED for PHYH Gene

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.498732

mRNA 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
genes like me logo Genes that share expression patterns with PHYH: view

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.

Orthologs for PHYH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PHYH 30 31
  • 99.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PHYH 30 31
  • 83.48 (n)
OneToMany
-- 31
  • 77 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia LOC478000 30
  • 79.98 (n)
-- 31
  • 77 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Phyh 30 17 31
  • 79.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phyh 30
  • 79.49 (n)
Oppossum
(Monodelphis domestica)
Mammalia PHYH 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PHYH 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PHYH 30 31
  • 65.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 66 (a)
OneToMany
-- 31
  • 66 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia phyh 30
  • 68.42 (n)
Str.15015 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.17548 30
Zebrafish
(Danio rerio)
Actinopterygii phyh 30 31
  • 68.17 (n)
OneToMany
PHYH (2 of 2) 31
  • 67 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_ZK550.6 30
  • 62.12 (n)
ZK550.6 31
  • 56 (a)
OneToMany
ZK550.5 31 32
  • 45 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
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

Additional dbSNP identifiers (rs#s) for PHYH Gene

Structural Variations from Database of Genomic Variants (DGV) for PHYH Gene

Variant ID Type Subtype PubMed ID
nsv472437 CNV novel sequence insertion 20440878
nsv831788 CNV loss 17160897

Variation tolerance for PHYH Gene

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

Human Gene Mutation Database (HGMD)
PHYH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHYH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHYH Gene

Disorders for PHYH Gene

MalaCards: The human disease database

(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
  • rd
retinitis pigmentosa
  • retinitis pigmentosa 1
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with PHYH: view

No data available for Genatlas for PHYH Gene

Publications for PHYH Gene

  1. Identification of PAHX, a Refsum disease gene. (PMID: 9326939) Mihalik SJ … Gould SJ (Nature genetics 1997) 2 3 4 23
  2. 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
  3. 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
  4. 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
  5. 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

Products for PHYH Gene

Sources for PHYH Gene