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Protein

Phytanoyl-CoA dioxygenase, peroxisomal

Gene

PHYH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.

Catalytic activityi

Phytanoyl-CoA + 2-oxoglutarate + O2 = 2-hydroxyphytanoyl-CoA + succinate + CO2.

Cofactori

Protein has several cofactor binding sites:

Pathwayi: fatty acid metabolism

This protein is involved in the pathway fatty acid metabolism, which is part of Lipid metabolism.
View all proteins of this organism that are known to be involved in the pathway fatty acid metabolism and in Lipid metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei120Alpha-ketoglutarate1 Publication1
Binding sitei157Alpha-ketoglutarate1 Publication1
Metal bindingi175Iron1 Publication1
Metal bindingi177Iron1 Publication1
Binding sitei193Alpha-ketoglutarate1 Publication1
Metal bindingi264Iron1 Publication1
Binding sitei266Alpha-ketoglutarate1 Publication1
Binding sitei275Alpha-ketoglutarate1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDioxygenase, Oxidoreductase
LigandIron, Metal-binding, Vitamin C

Enzyme and pathway databases

BioCyciMetaCyc:HS03003-MONOMER
BRENDAi1.14.11.18 2681
ReactomeiR-HSA-389599 Alpha-oxidation of phytanate
R-HSA-9033241 Peroxisomal protein import
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins
UniPathwayi
UPA00199

Chemistry databases

SwissLipidsiSLP:000001017

Names & Taxonomyi

Protein namesi
Recommended name:
Phytanoyl-CoA dioxygenase, peroxisomal (EC:1.14.11.18)
Alternative name(s):
Phytanic acid oxidase
Phytanoyl-CoA alpha-hydroxylase
Short name:
PhyH
Gene namesi
Name:PHYH
Synonyms:PAHX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107537.13
HGNCiHGNC:8940 PHYH
MIMi602026 gene
neXtProtiNX_O14832

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Peroxisome

Pathology & Biotechi

Involvement in diseasei

Refsum disease (RD)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:266500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01861983N → Y in RD. 1
Natural variantiVAR_017483173P → S in RD. 1 Publication1
Natural variantiVAR_018631175H → R in RD. 1
Natural variantiVAR_017484176Q → K in RD. 1 PublicationCorresponds to variant dbSNP:rs28939672EnsemblClinVar.1
Natural variantiVAR_017485177D → G in RD; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs770262329Ensembl.1
Natural variantiVAR_012980192A → AA in RD. 1 Publication1
Natural variantiVAR_017486193W → R in RD. 1 Publication1
Natural variantiVAR_017487197E → Q in RD. 1 Publication1
Natural variantiVAR_017488199I → F in RD. 1 Publication1
Natural variantiVAR_017489204G → S in RD; total loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894173EnsemblClinVar.1
Natural variantiVAR_017490220H → Y in RD. 1 PublicationCorresponds to variant dbSNP:rs767216891Ensembl.1
Natural variantiVAR_017492257F → S in RD. 1 PublicationCorresponds to variant dbSNP:rs1211564430Ensembl.1
Natural variantiVAR_005525269N → H in RD. 2 PublicationsCorresponds to variant dbSNP:rs104894179EnsemblClinVar.1
Natural variantiVAR_017493275R → Q in RD; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894174EnsemblClinVar.1
Natural variantiVAR_005526275R → W in RD; total loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894178EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Ichthyosis, Peroxisome biogenesis disorder, Retinitis pigmentosa

Organism-specific databases

DisGeNETi5264
GeneReviewsiPHYH
MalaCardsiPHYH
MIMi266500 phenotype
OpenTargetsiENSG00000107537
Orphaneti773 Refsum disease
PharmGKBiPA33280

Chemistry databases

DrugBankiDB00025 Antihemophilic Factor (Recombinant)
DB00126 Vitamin C

Polymorphism and mutation databases

BioMutaiPHYH

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 30PeroxisomeBy similarityAdd BLAST30
ChainiPRO_000002405331 – 338Phytanoyl-CoA dioxygenase, peroxisomalAdd BLAST308

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei59N6-succinyllysineBy similarity1
Modified residuei108N6-succinyllysineBy similarity1
Modified residuei231N6-succinyllysineBy similarity1
Modified residuei252N6-succinyllysineBy similarity1
Modified residuei317PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO14832
MaxQBiO14832
PaxDbiO14832
PeptideAtlasiO14832
PRIDEiO14832
ProteomicsDBi48268

PTM databases

iPTMnetiO14832
PhosphoSitePlusiO14832

Expressioni

Tissue specificityi

Expressed in liver, kidney, and T-cells, but not in spleen, brain, heart, lung and skeletal muscle.

Gene expression databases

BgeeiENSG00000107537 Expressed in 229 organ(s), highest expression level in liver
CleanExiHS_PHYH
ExpressionAtlasiO14832 baseline and differential
GenevisibleiO14832 HS

Organism-specific databases

HPAiHPA007598
HPA011796

Interactioni

Subunit structurei

Interacts specifically with the immunophilin FKBP52 and PHYHIP.2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi111282, 12 interactors
IntActiO14832, 6 interactors
STRINGi9606.ENSP00000263038

Structurei

Secondary structure

1338
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00327
ProteinModelPortaliO14832
SMRiO14832
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO14832

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni175 – 177Alpha-ketoglutarate binding3

Sequence similaritiesi

Belongs to the PhyH family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IPBI Eukaryota
COG5285 LUCA
GeneTreeiENSGT00390000001775
HOGENOMiHOG000007341
HOVERGENiHBG000392
InParanoidiO14832
KOiK00477
OMAiKMYHGIQ
OrthoDBiEOG091G0F66
PhylomeDBiO14832
TreeFamiTF313667

Family and domain databases

InterProiView protein in InterPro
IPR008775 Phytyl_CoA_dOase
PfamiView protein in Pfam
PF05721 PhyH, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14832-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEQLRAAARL QIVLGHLGRP SAGAVVAHPT SGTISSASFH PQQFQYTLDN
60 70 80 90 100
NVLTLEQRKF YEENGFLVIK NLVPDADIQR FRNEFEKICR KEVKPLGLTV
110 120 130 140 150
MRDVTISKSE YAPSEKMITK VQDFQEDKEL FRYCTLPEIL KYVECFTGPN
160 170 180 190 200
IMAMHTMLIN KPPDSGKKTS RHPLHQDLHY FPFRPSDLIV CAWTAMEHIS
210 220 230 240 250
RNNGCLVVLP GTHKGSLKPH DYPKWEGGVN KMFHGIQDYE ENKARVHLVM
260 270 280 290 300
EKGDTVFFHP LLIHGSGQNK TQGFRKAISC HFASADCHYI DVKGTSQENI
310 320 330
EKEVVGIAHK FFGAENSVNL KDIWMFRARL VKGERTNL
Length:338
Mass (Da):38,538
Last modified:January 1, 1998 - v1
Checksum:iFBF9639E7C79A6B0
GO
Isoform 2 (identifier: O14832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:238
Mass (Da):27,291
Checksum:iBB9006A60F16E0C6
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1ALH6B1ALH6_HUMAN
Phytanoyl-CoA dioxygenase, peroxiso...
PHYH
321Annotation score:
C9IYS5C9IYS5_HUMAN
Phytanoyl-CoA dioxygenase, peroxiso...
PHYH
176Annotation score:
C9JR86C9JR86_HUMAN
Phytanoyl-CoA dioxygenase, peroxiso...
PHYH
210Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01748229P → S1 PublicationCorresponds to variant dbSNP:rs28938169EnsemblClinVar.1
Natural variantiVAR_01861983N → Y in RD. 1
Natural variantiVAR_017483173P → S in RD. 1 Publication1
Natural variantiVAR_018631175H → R in RD. 1
Natural variantiVAR_017484176Q → K in RD. 1 PublicationCorresponds to variant dbSNP:rs28939672EnsemblClinVar.1
Natural variantiVAR_017485177D → G in RD; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs770262329Ensembl.1
Natural variantiVAR_012980192A → AA in RD. 1 Publication1
Natural variantiVAR_017486193W → R in RD. 1 Publication1
Natural variantiVAR_017487197E → Q in RD. 1 Publication1
Natural variantiVAR_017488199I → F in RD. 1 Publication1
Natural variantiVAR_017489204G → S in RD; total loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894173EnsemblClinVar.1
Natural variantiVAR_050528215G → S. Corresponds to variant dbSNP:rs7901902EnsemblClinVar.1
Natural variantiVAR_017490220H → Y in RD. 1 PublicationCorresponds to variant dbSNP:rs767216891Ensembl.1
Natural variantiVAR_017491245R → Q2 PublicationsCorresponds to variant dbSNP:rs62619919EnsemblClinVar.1
Natural variantiVAR_017492257F → S in RD. 1 PublicationCorresponds to variant dbSNP:rs1211564430Ensembl.1
Natural variantiVAR_005525269N → H in RD. 2 PublicationsCorresponds to variant dbSNP:rs104894179EnsemblClinVar.1
Natural variantiVAR_017493275R → Q in RD; total loss of activity. 1 PublicationCorresponds to variant dbSNP:rs104894174EnsemblClinVar.1
Natural variantiVAR_005526275R → W in RD; total loss of activity. 2 PublicationsCorresponds to variant dbSNP:rs104894178EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0462891 – 100Missing in isoform 2. CuratedAdd BLAST100

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF023462 mRNA Translation: AAB81834.1
AF112977 mRNA Translation: AAD20602.1
AF242386
, AF242379, AF242380, AF242381, AF242382, AF242383, AF242384, AF242385 Genomic DNA Translation: AAF74123.1
AL138764 Genomic DNA No translation available.
BC029512 mRNA Translation: AAH29512.1
CCDSiCCDS41489.1 [O14832-2]
CCDS7097.1 [O14832-1]
RefSeqiNP_001032626.1, NM_001037537.1 [O14832-2]
NP_001310009.1, NM_001323080.1 [O14832-2]
NP_006205.1, NM_006214.3 [O14832-1]
UniGeneiHs.498732

Genome annotation databases

EnsembliENST00000263038; ENSP00000263038; ENSG00000107537 [O14832-1]
ENST00000396913; ENSP00000380121; ENSG00000107537 [O14832-2]
GeneIDi5264
KEGGihsa:5264
UCSCiuc001ime.4 human [O14832-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF023462 mRNA Translation: AAB81834.1
AF112977 mRNA Translation: AAD20602.1
AF242386
, AF242379, AF242380, AF242381, AF242382, AF242383, AF242384, AF242385 Genomic DNA Translation: AAF74123.1
AL138764 Genomic DNA No translation available.
BC029512 mRNA Translation: AAH29512.1
CCDSiCCDS41489.1 [O14832-2]
CCDS7097.1 [O14832-1]
RefSeqiNP_001032626.1, NM_001037537.1 [O14832-2]
NP_001310009.1, NM_001323080.1 [O14832-2]
NP_006205.1, NM_006214.3 [O14832-1]
UniGeneiHs.498732

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2A1XX-ray2.50A31-338[»]
DisProtiDP00327
ProteinModelPortaliO14832
SMRiO14832
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111282, 12 interactors
IntActiO14832, 6 interactors
STRINGi9606.ENSP00000263038

Chemistry databases

DrugBankiDB00025 Antihemophilic Factor (Recombinant)
DB00126 Vitamin C
SwissLipidsiSLP:000001017

PTM databases

iPTMnetiO14832
PhosphoSitePlusiO14832

Polymorphism and mutation databases

BioMutaiPHYH

Proteomic databases

EPDiO14832
MaxQBiO14832
PaxDbiO14832
PeptideAtlasiO14832
PRIDEiO14832
ProteomicsDBi48268

Protocols and materials databases

DNASUi5264
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263038; ENSP00000263038; ENSG00000107537 [O14832-1]
ENST00000396913; ENSP00000380121; ENSG00000107537 [O14832-2]
GeneIDi5264
KEGGihsa:5264
UCSCiuc001ime.4 human [O14832-1]

Organism-specific databases

CTDi5264
DisGeNETi5264
EuPathDBiHostDB:ENSG00000107537.13
GeneCardsiPHYH
GeneReviewsiPHYH
HGNCiHGNC:8940 PHYH
HPAiHPA007598
HPA011796
MalaCardsiPHYH
MIMi266500 phenotype
602026 gene
neXtProtiNX_O14832
OpenTargetsiENSG00000107537
Orphaneti773 Refsum disease
PharmGKBiPA33280
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPBI Eukaryota
COG5285 LUCA
GeneTreeiENSGT00390000001775
HOGENOMiHOG000007341
HOVERGENiHBG000392
InParanoidiO14832
KOiK00477
OMAiKMYHGIQ
OrthoDBiEOG091G0F66
PhylomeDBiO14832
TreeFamiTF313667

Enzyme and pathway databases

UniPathwayi
UPA00199

BioCyciMetaCyc:HS03003-MONOMER
BRENDAi1.14.11.18 2681
ReactomeiR-HSA-389599 Alpha-oxidation of phytanate
R-HSA-9033241 Peroxisomal protein import
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins

Miscellaneous databases

ChiTaRSiPHYH human
EvolutionaryTraceiO14832
GenomeRNAii5264
PROiPR:O14832
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107537 Expressed in 229 organ(s), highest expression level in liver
CleanExiHS_PHYH
ExpressionAtlasiO14832 baseline and differential
GenevisibleiO14832 HS

Family and domain databases

InterProiView protein in InterPro
IPR008775 Phytyl_CoA_dOase
PfamiView protein in Pfam
PF05721 PhyH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPAHX_HUMAN
AccessioniPrimary (citable) accession number: O14832
Secondary accession number(s): A8MTS8, B1ALH5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: October 10, 2018
This is version 184 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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