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Protein

Phytanoyl-CoA dioxygenase, peroxisomal

Gene

PHYH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei120Alpha-ketoglutarate1 Publication1
Binding sitei157Alpha-ketoglutarate1 Publication1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi175Iron1 Publication1
Metal bindingi177Iron1 Publication1
Binding sitei193Alpha-ketoglutarate1 Publication1
Metal bindingi264Iron1 Publication1
Binding sitei266Alpha-ketoglutarate1 Publication1
Binding sitei275Alpha-ketoglutarate1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS03003-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.14.11.18 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-389599 Alpha-oxidation of phytanate
R-HSA-9033241 Peroxisomal protein import
R-HSA-9033500 TYSND1 cleaves peroxisomal proteins

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00199

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001017

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PHYH
Synonyms:PAHX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000107537.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8940 PHYH

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602026 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O14832

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
5264

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PHYH

MalaCards human disease database

More...
MalaCardsi
PHYH
MIMi266500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000107537

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
773 Refsum disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33280

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00025 Antihemophilic Factor (Recombinant)
DB00126 Vitamin C

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PHYH

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 30PeroxisomeBy similarityAdd BLAST30
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002405331 – 338Phytanoyl-CoA dioxygenase, peroxisomalAdd BLAST308

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei59N6-succinyllysineBy similarity1
Modified residuei108N6-succinyllysineBy similarity1
Modified residuei231N6-succinyllysineBy similarity1
Modified residuei252N6-succinyllysineBy similarity1
Modified residuei317PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O14832

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O14832

MaxQB - The MaxQuant DataBase

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MaxQBi
O14832

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O14832

PeptideAtlas

More...
PeptideAtlasi
O14832

PRoteomics IDEntifications database

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PRIDEi
O14832

ProteomicsDB human proteome resource

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ProteomicsDBi
48268

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O14832

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O14832

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000107537 Expressed in 229 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_PHYH

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O14832 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O14832 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007598
HPA011796

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts specifically with the immunophilin FKBP52 and PHYHIP.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111282, 12 interactors

Protein interaction database and analysis system

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IntActi
O14832, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263038

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2A1XX-ray2.50A31-338[»]

Database of protein disorder

More...
DisProti
DP00327

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O14832

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O14832

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O14832

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni175 – 177Alpha-ketoglutarate binding3

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PhyH family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IPBI Eukaryota
COG5285 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001775

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007341

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000392

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O14832

KEGG Orthology (KO)

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KOi
K00477

Identification of Orthologs from Complete Genome Data

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OMAi
KMYHGIQ

Database of Orthologous Groups

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OrthoDBi
172471at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O14832

TreeFam database of animal gene trees

More...
TreeFami
TF313667

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008775 Phytyl_CoA_dOase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05721 PhyH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9IYS5C9IYS5_HUMAN
Phytanoyl-CoA dioxygenase, peroxiso...
PHYH
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JR86C9JR86_HUMAN
Phytanoyl-CoA dioxygenase, peroxiso...
PHYH
210Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0462891 – 100Missing in isoform 2. CuratedAdd BLAST100

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS41489.1 [O14832-2]
CCDS7097.1 [O14832-1]

NCBI Reference Sequences

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RefSeqi
NP_001032626.1, NM_001037537.1 [O14832-2]
NP_001310009.1, NM_001323080.1 [O14832-2]
NP_006205.1, NM_006214.3 [O14832-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.498732

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000263038; ENSP00000263038; ENSG00000107537 [O14832-1]
ENST00000396913; ENSP00000380121; ENSG00000107537 [O14832-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5264

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5264

UCSC genome browser

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UCSCi
uc001ime.4 human [O14832-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
jPOSTiO14832
MaxQBiO14832
PaxDbiO14832
PeptideAtlasiO14832
PRIDEiO14832
ProteomicsDBi48268

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5264
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

Comparative Toxicogenomics Database

More...
CTDi
5264
DisGeNETi5264
EuPathDBiHostDB:ENSG00000107537.13

GeneCards: human genes, protein and diseases

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GeneCardsi
PHYH
GeneReviewsiPHYH
HGNCiHGNC:8940 PHYH
HPAiHPA007598
HPA011796
MalaCardsiPHYH
MIMi266500 phenotype
602026 gene
neXtProtiNX_O14832
OpenTargetsiENSG00000107537
Orphaneti773 Refsum disease
PharmGKBiPA33280

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IPBI Eukaryota
COG5285 LUCA
GeneTreeiENSGT00390000001775
HOGENOMiHOG000007341
HOVERGENiHBG000392
InParanoidiO14832
KOiK00477
OMAiKMYHGIQ
OrthoDBi172471at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PHYH human
EvolutionaryTraceiO14832

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5264

Protein Ontology

More...
PROi
PR:O14832

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAHX_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O14832
Secondary accession number(s): A8MTS8, B1ALH5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 186 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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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