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Aliases & Descriptions for PHYH
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 1.14.11.18 3 LN1 2 LNAP1 2 PAHX 1 , 2 , 3 , 5 PHYH1 1 , 2 PhyH 3 RD 1 , 2
Descriptions Phytanic acid oxidase 2 , 3 Phytanoyl-CoA alpha-hydroxylase 2 , 3 phytanoil-CoA alpha hydroxylase 2 phytanoyl-CoA 2 oxoglutarate dioxygenase 2 phytanoyl-CoA 2-hydroxylase 2 phytanoyl-CoA dioxygenase, peroxisomal 2 phytanoyl-CoA hydroxylase 1 phytanoyl-CoA hydroxylase (Refsum disease) 1 , 2
Search outside databases for aliases for PHYH genePrevious GC identifers: GC10M013302 GC10M013470 GC10M013323
Summaries for PHYH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for PHYH : This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in thealpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein convertsphytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsumdisease (RD) and deficient protein activity has been associated with Zellweger syndrome andrhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encodingdifferent isoforms, have been characterized. [provided by RefSeq] UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 Function : Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA
Genomic Location for PHYH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the PHYH gene Entrez Gene cytogenetic band: 10p13 Ensembl cytogenetic band: 10p13 HGNC cytogenetic band: 10p13 PHYH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M013359:
(about GC identifiers )
Start:
13,359,802 bp from pter
End:
13,384,418 bp from pter
Size:
24,617 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000010.9 NT_077569.2 Proteins for PHYH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 (See
protein sequence )Recommended Name: Phytanoyl-CoA dioxygenase, peroxisomal precursor Size : 338 amino acids; 38538 Da
Cofactor : Iron
Cofactor : Ascorbate
Subunit : Interacts specifically with the immunophilin FKBP52 and PHYHIP
Subcellular location : Peroxisome
PDB structures from and Proteopedia : 2A1X (3D)
 
Secondary accessions : B1ALH5
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001032626.1 NP_006205.1 ENSEMBL proteins: ENSP00000380121 ENSP00000367928 ENSP00000263038 ENSP00000380126 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: PHYH 1 Gene Ontology (GO) cellular component term (links to tree view) :
About this table Antibodies for PHYH: Assays for PHYH:
Protein
Domains/ Families for PHYH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O14832 ProtoNet protein and cluster: O14832
1 Blocks protein family : IPB008775 Phytanoyl-CoA dioxygenase UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 Similarity : Belongs to the PhyH family
Gene Function for PHYH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006214 Applied Biosystems Silencer ® siRNAs for PHYH Sigma-Aldrich siRNA and siRNA Panels for PHYH Sigma-Aldrich shRNA for PHYH Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006214 UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 Function : Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoACatalytic activity : Phytanoyl-CoA + 2-oxoglutarate + O(2) = 2-hydroxyphytanoyl-CoA + succinate +CO(2) Enzyme Number (IUBMB): EC 1.14.11.18
Genatlas biochemistry entry for PHYH :phytanoyl-CoA hydroxylase,41.2kDa,FKBP-associated protein,containing a cleavable peroxisomaltargetting signal type 2 (PTS2)
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Phyh) :5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
):
GO ID Qualified GO term Evidence PubMed IDs GO:0005506 iron ion binding
IEA -- GO:0005515 protein binding
IPI 17353931 GO:0009055 electron carrier activity
TAS 8954107 GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
IEA -- GO:0031418 L-ascorbic acid binding
IEA --
About this table
Pathways & Interactions for PHYH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 Pathway : Lipid metabolism; fatty acid metabolism
Gene Network CentralTM Interacting Genes and Proteins Network for PHYH 5/24 Interacting proteins for PHYH (ENSP00000367928 3 O14832 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 24
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
About this table
Drugs & Compounds for PHYH (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for PHYH 6 Novoseek chemical compound relationships for PHYH gene
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Transcripts for PHYH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_006214 Sigma-Aldrich siRNA and siRNA Panels for PHYH Sigma-Aldrich shRNA for PHYH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001037537 NM_006214
REFSEQ mRNAs for PHYH gene (2 alternative transcripts): NM_001037537.1 NM_006214.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001037537 NM_006214
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001037537  
Additional cDNA sequence: AF023462.1 AF112977.1 BC021011.1 BC029512.1 CR542055.1 CR591194.1 CR597553.1 CR600223.1 CR610525.1 CR623416.1 CR623967.1
12 DOTS entries : DT.216103 DT.75120414 DT.100796169 DT.100796173 DT.92432991 DT.95107144 DT.100796168 DT.100796171 DT.121216358 DT.86848595 DT.92432993 DT.95268160
24/201 AceView cDNA sequences (see all 201
):CR597553 T32499 Z43616 CK822288 CR591194 BC021011 CR610525 CR623416 BM985421 CR600223 BM701313 BU730211 CR623967 N72414 AV653048 CB164091 T81584 AA553549 AW614260 H80645 BI765740 AW515470 AI800402 CB148518
highest scoring ESTs for PHYH :AF023462 AA337631 AF112977 AL515362 BC021011 BC029512 BE876320 BF185692 BF876138 BF876150
Unigene Cluster for PHYH: Phytanoyl-CoA 2-hydroxylase Hs.498732 [show with all ESTs ] Unigene Representative Sequence: CR623416 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for PHYH ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 SP1 :   -       -                   SP2 :         -                   SP3 :     -     -                   SP4 :   -                        
About this scheme ECgene alternative splicing isoforms for PHYH 4 Ensembl transcripts including schematic representations : ENST00000396913
ENST00000378659
ENST00000263038
ENST00000396920
Expression for PHYH
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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PHYH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for PHYH 1 / 2 / 3
3 probe-sets matching PHYH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GAGTCCAAATSOURCE GeneReport for Unigene cluster: Hs.498732 Expression variation in blood from EXPOLDB for PHYH
UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832 Tissue specificity : Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lungand skeletal muscle
Orthologs for PHYH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for PHYH gene from 5/11 species (see all 11
)
About this table Species with no ortholog for PHYH ENSEMBL Gene Tree for PHYH Paralogs for PHYH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for PHYH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for PHYH (up to first 250kb)
Disorders & Mutations for PHYH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 602026 disorders : 266500 UniProtKB/Swiss-Prot: PAHX_HUMAN, O14832
Defects in PHYH are a cause of Refsum disease (RD) [MIM:266500]. RD is an autosomalrecessive disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa,peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid(CSF). Patients exhibit accumulation of the branched-chain fatty acid, phytanic acid, in blood andtissues. Less constant features are nerve deafness, anosmia, skeletal abnormalities, ichthyosis,cataracts and cardiac impairment. Manifestations of the disease appear in the second or thirddecade of life
7 Novoseek disease relationships for PHYH gene
About this table 1 PharmGKB disease relationship for PHYH gene About this table GeneTests: PHYH Refsum Disease Human Gene Mutation Database : PHYH
Medical News for PHYH (Possibly Related Articles in
Doctor's Guide )
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Publications for PHYH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/68 PubMed articles for PHYH gene (see all 68
): Identification of PAHX, a Refsum disease gene. (PubMed id 9326939) 1, 2, 3, 4 Mihalik S.J....Gould S.J. (1997) Molecular basis of Refsum disease: sequence variations in phytanoyl- CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (PubMed id 14974078) 1, 3, 4 Jansen G.A.... Wanders R.J.A. (2004) Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease. (PubMed id 16186124) 1, 3, 4 McDonough M.A....Schofield C.J. (2005) Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. (PubMed id 10767344) 1, 3, 4 Jansen G.A.... Wanders R.J.A. (2000) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. (PubMed id 9326940) 1, 3, 4 Jansen G.A....Wanders R.J.A. (1997) Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. (PubMed id 10709665) 1, 3, 4 Jansen G.A.... Wanders R.J.A. (1999) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. (PubMed id 10686344) 3, 4 Lee Z.H....Kim K.K. (2000) Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. (PubMed id 10051602) 3, 4 Chambraud B....Baulieu E.-E. (1999) Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation. (PubMed id 10588950) 1, 3 Jansen G.A....Wanders R.J. (1999)
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Genome Databases showing PHYH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing PHYH
(According to HUGE )
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Specialized Databases showing PHYH (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=PHYH
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-- Services for PHYH (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for PHYH:
Recombinant Proteins (PHYH ) Antibodies (PHYH )
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