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Aliases for PHYH Gene

Aliases for PHYH Gene

  • Phytanoyl-CoA 2-Hydroxylase 2 3
  • PAHX 3 4 6
  • Phytanoyl-CoA Alpha-Hydroxylase 3 4
  • Phytanic Acid Oxidase 3 4
  • EC 1.14.11.18 4 64
  • Phytanoyl-CoA Hydroxylase (Refsum Disease) 2
  • Phytanoyl-CoA 2 Oxoglutarate Dioxygenase 3
  • Phytanoyl-CoA Dioxygenase, Peroxisomal 3
  • Phytanoil-CoA Alpha Hydroxylase 3
  • Phytanoyl-CoA Dioxygenase 2
  • Phytanoyl-CoA Hydroxylase 2
  • Refsum Disease 2
  • LNAP1 3
  • PHYH1 3
  • PhyH 4
  • LN1 3
  • RD 3

External Ids for PHYH Gene

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 and phyh-related refsum disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and cofactor binding.

UniProtKB/Swiss-Prot for PHYH Gene

  • Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHYH Gene

Genomics for PHYH Gene

Genomic Location for PHYH Gene

Start:
13,277,796 bp from pter
End:
13,302,412 bp from pter
Size:
24,617 bases
Orientation:
Minus strand

Genomic View for PHYH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PHYH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHYH Gene

Regulatory Elements 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;
    Quaternary structure:
    • Interacts specifically with the immunophilin FKBP52 and 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

Proteomics data for PHYH Gene at MOPED

Selected DME Specific Peptides for PHYH Gene

Post-translational modifications for PHYH Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys108 and Lys310

Other Protein References for PHYH Gene

Domains for PHYH Gene

Protein Domains for PHYH Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

PAHX_HUMAN
Family:
  • Belongs to the PhyH family.:
    • O14832
genes like me logo Genes that share domains with PHYH: view

No data available for Gene Families for PHYH Gene

Function for PHYH Gene

Molecular function for PHYH Gene

GENATLAS Biochemistry: phytanoyl-CoA hydroxylase,41.2kDa,FKBP-associated protein,containing a cleavable peroxisomal targetting signal type 2 (PTS2)
UniProtKB/Swiss-Prot CatalyticActivity: Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2-hydroxyphytanoyl-CoA + succinate + CO(2)
UniProtKB/Swiss-Prot Function: Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA

Enzyme Numbers (IUBMB) for PHYH Gene

Gene Ontology (GO) - Molecular Function for PHYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0005515 protein binding IPI 10051602
GO:0009055 electron carrier activity TAS 8954107
GO:0031418 L-ascorbic acid binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PHYH: view
genes like me logo Genes that share phenotypes with PHYH: view

Animal Models for PHYH Gene

MGI Knock Outs for PHYH:

miRNA for PHYH Gene

miRTarBase miRNAs that target PHYH

No data available for Transcription Factor Targeting and HOMER Transcription for PHYH Gene

Localization for PHYH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHYH Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHYH Gene COMPARTMENTS Subcellular localization image for PHYH gene
Compartment Confidence
peroxisome 5
cytosol 2
extracellular 2
mitochondrion 2
cytoskeleton 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PHYH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IDA 9326939
GO:0005782 peroxisomal matrix TAS --
genes like me logo Genes that share ontologies with PHYH: view

Pathways 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:0006720 isoprenoid metabolic process IDA 11555634
GO:0044255 cellular lipid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0097089 methyl-branched fatty acid metabolic process IDA 10744784
genes like me logo Genes that share ontologies with PHYH: view

Compounds for PHYH Gene

(8) HMDB Compounds for PHYH Gene

Compound Synonyms Cas Number PubMed IDs
2-Hydroxyphytanoyl-CoA
  • 2-Hydroxyphytanoyl-CoA
172787-73-4
Ascorbic acid
  • (+)-ascorbate
50-81-7
Carbon dioxide
  • Carbon oxide
124-38-9
Iron
  • Armco iron
7439-89-6
Oxoglutaric acid
  • 2-Ketoglutarate
328-50-7

(2) Drugbank Compounds for PHYH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Antihemophilic Factor
  • AHF
target antagonist
Vitamin C
  • Ascorbate
50-81-7 target

(8) Novoseek inferred chemical compound relationships for PHYH Gene

Compound -log(P) Hits PubMed IDs
2-hydroxyphytanoyl-coa 97 4
phytanic acid 96.7 19
alpha-ketoglutarate 54 7
fatty acid 33.3 1
paraffin 26.4 1
genes like me logo Genes that share compounds with PHYH: view

Transcripts for PHYH Gene

Unigene Clusters for PHYH Gene

Phytanoyl-CoA 2-hydroxylase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PHYH

Expression for PHYH Gene

mRNA expression in normal human tissues for PHYH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHYH Gene

This gene is overexpressed in Muscle - Skeletal (7.9) and Liver (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PHYH Gene

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

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 36
  • 99.11 (n)
  • 98.82 (a)
PHYH 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 77 (a)
OneToMany
PHYH 36
  • 83.48 (n)
  • 82.63 (a)
PHYH 37
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 68 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
LOC478000 36
  • 79.98 (n)
  • 77.22 (a)
mouse
(Mus musculus)
Mammalia Phyh 36
  • 79.59 (n)
  • 78.11 (a)
Phyh 16
Phyh 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHYH 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHYH 37
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phyh 36
  • 79.49 (n)
  • 78.11 (a)
chicken
(Gallus gallus)
Aves PHYH 36
  • 65.97 (n)
  • 64.48 (a)
PHYH 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 66 (a)
OneToMany
-- 37
  • 66 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.17548 36
tropical clawed frog
(Silurana tropicalis)
Amphibia phyh 36
  • 68.42 (n)
  • 72.45 (a)
Str.15015 36
zebrafish
(Danio rerio)
Actinopterygii phyh 36
  • 68.17 (n)
  • 69.07 (a)
phyh 37
  • 67 (a)
OneToMany
PHYH (2 of 2) 37
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_ZK550.6 36
  • 62.12 (n)
  • 61.43 (a)
ZK550.5 37
  • 45 (a)
OneToMany
ZK550.6 37
  • 56 (a)
OneToMany
ZK550.5 38
  • 51 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4002 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 58 (a)
OneToOne
Species with no ortholog for PHYH:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for PHYH Gene

No data available for Paralogs for PHYH Gene

Variants for PHYH Gene

Sequence variations from dbSNP and Humsavar for PHYH Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs11133 -- 13,278,236(-) AAAAT(A/G)TTTTC utr-variant-3-prime
rs471917 -- 13,294,936(+) TCCTA(A/G)TAACA intron-variant
rs473407 other 13,288,402(+) TTGTG(C/T)GTGCC reference, synonymous-codon, intron-variant
rs487041 -- 13,291,621(+) CTACA(A/G)GTGCA intron-variant
rs492206 -- 13,301,437(+) actaa(A/C)ctttc upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv894886 CNV Loss 21882294
nsv831788 CNV Loss 17160897

Relevant External Links for PHYH Gene

HapMap Linkage Disequilibrium report
PHYH
Human Gene Mutation Database (HGMD)
PHYH

Disorders for PHYH Gene

(1) OMIM Diseases for PHYH Gene (602026)

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:9326939, ECO:0000269 PubMed:9326940}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for PHYH Gene

Disease -log(P) Hits PubMed IDs
refsum disease 97.1 24
chondrodysplasia punctata rhizomelic 83.2 1
peroxisomal disorders 83 1
retinitis pigmentosa 65 1
lymphoma follicular 45.7 2

Relevant External Links for PHYH

GeneTests
PHYH
GeneReviews
PHYH
Genetic Association Database (GAD)
PHYH
Human Genome Epidemiology (HuGE) Navigator
PHYH
genes like me logo Genes that share disorders with PHYH: view

Publications for PHYH Gene

  1. Identification of PAHX, a Refsum disease gene. (PMID: 9326939) Mihalik S.J. … Gould S.J. (Nat. Genet. 1997) 2 3 4 23
  2. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (PMID: 9326940) Jansen G.A. … Wanders R.J.A. (Nat. Genet. 1997) 3 4 23
  3. Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (PMID: 10709665) Jansen G.A. … Wanders R.J.A. (Adv. Exp. Med. Biol. 1999) 3 4 23
  4. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (PMID: 10767344) Jansen G.A. … Wanders R.J.A. (Hum. Mol. Genet. 2000) 3 4 23
  5. Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (PMID: 14974078) Jansen G.A. … Wanders R.J.A. (Hum. Mutat. 2004) 3 4 23

Products for PHYH Gene

Sources for PHYH Gene

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