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Entry version 179 (29 Sep 2021)
Sequence version 1 (01 Dec 2001)
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Protein

Prolyl hydroxylase EGLN2

Gene

EGLN2

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

Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A (PubMed:11595184, PubMed:12039559, PubMed:15925519, PubMed:16509823, PubMed:17114296, PubMed:23932902).

Target proteins are preferentially recognized via a LXXLAP motif (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins (PubMed:11595184, PubMed:12039559, PubMed:12181324, PubMed:15925519, PubMed:19339211).

Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A (PubMed:11595184, PubMed:12039559, PubMed:12181324, PubMed:15925519).

Also hydroxylates HIF2A (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Has a preference for the CODD site for both HIF1A and HIF2A (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes (PubMed:11595184, PubMed:12039559, PubMed:15925519).

EGLN2 is involved in regulating hypoxia tolerance and apoptosis in cardiac and skeletal muscle (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Also regulates susceptibility to normoxic oxidative neuronal death (PubMed:11595184, PubMed:12039559, PubMed:15925519).

Links oxygen sensing to cell cycle and primary cilia formation by hydroxylating the critical centrosome component CEP192 which promotes its ubiquitination and subsequent proteasomal degradation (PubMed:23932902).

Hydroxylates IKBKB, mediating NF-kappa-B activation in hypoxic conditions (PubMed:17114296).

Also mediates hydroxylation of ATF4, leading to decreased protein stability of ATF4 (By similarity).

By similarity8 Publications

<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 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=20 µM for HIF1A DLDLEMLAPYIPMDDDFQL peptide (at pH 7.5 and 37 degrees Celsius)1 Publication
  2. KM=50 µM for L-ascorbate (at pH 7.5 and 37 degrees Celsius)1 Publication
  3. KM=1.0 µM for Fe2+ (at pH 7.5 and 37 degrees Celsius)1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi297Iron; via tele nitrogenPROSITE-ProRule annotation1 PublicationImported1
Metal bindingi299IronPROSITE-ProRule annotation1 PublicationImported1
Metal bindingi358Iron; via tele nitrogenPROSITE-ProRule annotation1 PublicationImported1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 sitei3672-oxoglutaratePROSITE-ProRule annotation1

<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:ENSG00000171570-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.14.11.2, 2681
1.14.11.29, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q96KS0

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1234176, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96KS0

<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:
Prolyl hydroxylase EGLN2Curated (EC:1.14.11.-5 Publications)
Alternative name(s):
Egl nine homolog 2Curated (EC:1.14.11.29PROSITE-ProRule annotation3 Publications)
Estrogen-induced tag 61 Publication
Short name:
EIT-61 Publication
HPH-3
Hypoxia-inducible factor prolyl hydroxylase 1
Short name:
HIF-PH1
Short name:
HIF-prolyl hydroxylase 1
Short name:
HPH-1
Prolyl hydroxylase domain-containing protein 11 Publication
Short name:
PHD11 Publication
<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:EGLN2Imported
Synonyms:EIT61 Publication
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14660, EGLN2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606424, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96KS0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000269858

<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

Keywords - Cellular componenti

Nucleus

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1M → A: Leads to expression of isoform p40 only. 1 Publication1
Mutagenesisi34M → A: Leads to expression of isoform p43 only. 1 Publication1
Mutagenesisi102K → A: Retained in the nucleus. 1 Publication1
Mutagenesisi106R → A: Retained in the nucleus. 1 Publication1
Mutagenesisi113R → A: Retained in the nucleus. 1 Publication1
Mutagenesisi119R → A: Cytoplasmic and nuclear localization. Reduced transcriptional activity of HIF1A as for wild type. 1 Publication1
Mutagenesisi134R → A: Retained in the nucleus. 1 Publication1
Mutagenesisi297H → A: Eliminates hydroxylase activity. 1 Publication1
Mutagenesisi299D → A: Eliminates hydroxylase activity. 1 Publication1
Mutagenesisi358H → A: Eliminates hydroxylase activity. 2 Publications1
Mutagenesisi367R → A: Eliminates hydroxylase activity. 1 Publication1
Mutagenesisi367R → K: Eliminates hydroxylase activity on a HIF1A peptide. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
112398

Open Targets

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OpenTargetsi
ENSG00000269858

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27671

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96KS0, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3028

Drug and drug target database

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DrugBanki
DB00126, Ascorbic acid
DB04847, Roxadustat

DrugCentral

More...
DrugCentrali
Q96KS0

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2832

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EGLN2

Domain mapping of disease mutations (DMDM)

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DMDMi
32129513

<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 polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002066641 – 407Prolyl hydroxylase EGLN2Add BLAST407

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 residuei130PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by SIAH1 and/or SIAH2 in response to the unfolded protein response (UPR), leading to its degradation.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96KS0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96KS0

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

More...
PaxDbi
Q96KS0

PeptideAtlas

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PeptideAtlasi
Q96KS0

PRoteomics IDEntifications database

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PRIDEi
Q96KS0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
77112 [Q96KS0-1]
77113 [Q96KS0-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q96KS0, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96KS0

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

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PhosphoSitePlusi
Q96KS0

<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 adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, including normal and cancerous mammary, ovarian and prostate epithelium.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By estrogen (PubMed:11850811). Induced by proteasomal inhibitor MG132 (at protein level) (PubMed:16509823).2 Publications
Induced by hypoxia leading to protein stability.1 Publication
Repressed by hypoxia.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000269858, Expressed in testis and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96KS0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96KS0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000269858, Low tissue specificity

<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 (preferably isoform p40) with SIAH2; the interaction targets both SIAH2 isoforms for proteasomal degradation in vitro (PubMed:16509823).

Interacts with LIMD1, WTIP and AJUBA (PubMed:22286099).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<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
125184, 35 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96KS0

Protein interaction database and analysis system

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IntActi
Q96KS0, 8 interactors

Molecular INTeraction database

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MINTi
Q96KS0

STRING: functional protein association networks

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STRINGi
9606.ENSP00000469686

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q96KS0

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96KS0, protein

<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

1407
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q96KS0

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini278 – 376Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST99

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>Regioni1 – 34DisorderedSequence analysisAdd BLAST34
Regioni50 – 89DisorderedSequence analysisAdd BLAST40
Regioni108 – 157DisorderedSequence analysisAdd BLAST50
Regioni225 – 235Beta(2)beta(3) 'finger-like' loopBy similarityAdd BLAST11

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi89 – 134Bipartite nuclear localization signal1 PublicationAdd BLAST46

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1 – 19Polar residuesSequence analysisAdd BLAST19
Compositional biasi60 – 77Polar residuesSequence analysisAdd BLAST18

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Beta2beta3 'finger-like' loop domain is important for substrate (HIFs' CODD/NODD) selectivity.By similarity

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3710, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000160655

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_063064_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96KS0

Identification of Orthologs from Complete Genome Data

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OMAi
WSIGALM

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96KS0

TreeFam database of animal gene trees

More...
TreeFami
TF314595

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005123, Oxoglu/Fe-dep_dioxygenase
IPR006620, Pro_4_hyd_alph

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00702, P4Hc, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51471, FE2OG_OXY, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

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 initiation. AlignAdd to basket

This entry has 2 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform p43 (identifier: Q96KS0-1) [UniParc]FASTAAdd to basket
Also known as: PHD1p43

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MDSPCQPQPL SQALPQLPGS SSEPLEPEPG RARMGVESYL PCPLLPSYHC
60 70 80 90 100
PGVPSEASAG SGTPRATATS TTASPLRDGF GGQDGGELRP LQSEGAAALV
110 120 130 140 150
TKGCQRLAAQ GARPEAPKRK WAEDGGDAPS PSKRPWARQE NQEAEREGGM
160 170 180 190 200
SCSCSSGSGE ASAGLMEEAL PSAPERLALD YIVPCMRYYG ICVKDSFLGA
210 220 230 240 250
ALGGRVLAEV EALKRGGRLR DGQLVSQRAI PPRSIRGDQI AWVEGHEPGC
260 270 280 290 300
RSIGALMAHV DAVIRHCAGR LGSYVINGRT KAMVACYPGN GLGYVRHVDN
310 320 330 340 350
PHGDGRCITC IYYLNQNWDV KVHGGLLQIF PEGRPVVANI EPLFDRLLIF
360 370 380 390 400
WSDRRNPHEV KPAYATRYAI TVWYFDAKER AAAKDKYQLA SGQKGVQVPV

SQPPTPT
Length:407
Mass (Da):43,650
Last modified:December 1, 2001 - 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:iF172E9B0482C9CF3
GO
Isoform p40 (identifier: Q96KS0-2) [UniParc]FASTAAdd to basket
Also known as: PHD1p40

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.

Show »
Length:374
Mass (Da):40,168
Checksum:i228015782B7DE743
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0Z6M0R0Z6_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
139Annotation 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>
M0R110M0R110_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
101Annotation 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>
M0QXM8M0QXM8_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
77Annotation 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>
M0QXR0M0QXR0_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
94Annotation 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>
M0R035M0R035_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
87Annotation 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>
M0R1W4M0R1W4_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
72Annotation 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>
A0A0C4DGR4A0A0C4DGR4_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
125Annotation 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>
M0R2X9M0R2X9_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
67Annotation 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>
M0R1L0M0R1L0_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
96Annotation 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>
M0R350M0R350_HUMAN
Prolyl hydroxylase EGLN2
EGLN2
128Annotation 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>
There is more potential isoformShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH01723 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti176R → P in AAK82943 (PubMed:11850811).Curated1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0388361 – 33Missing in isoform p40. CuratedAdd BLAST33

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

More...
DDBJi
Links Updated
AJ310544 mRNA Translation: CAC42510.1
AY040565 mRNA Translation: AAK82943.1
AK291385 mRNA Translation: BAF84074.1
AL832506 mRNA No translation available.
AC008537 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57008.1
BC001723 mRNA Translation: AAH01723.1 Different initiation.
BC036051 mRNA Translation: AAH36051.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12567.1 [Q96KS0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_444274.1, NM_053046.3 [Q96KS0-1]
NP_542770.2, NM_080732.3 [Q96KS0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000303961; ENSP00000307080; ENSG00000269858 [Q96KS0-1]
ENST00000406058; ENSP00000385253; ENSG00000269858 [Q96KS0-1]
ENST00000593726; ENSP00000469686; ENSG00000269858 [Q96KS0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
112398

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:112398

UCSC genome browser

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UCSCi
uc002opg.5, human [Q96KS0-1]

Keywords - Coding sequence diversityi

Alternative initiation

<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
AJ310544 mRNA Translation: CAC42510.1
AY040565 mRNA Translation: AAK82943.1
AK291385 mRNA Translation: BAF84074.1
AL832506 mRNA No translation available.
AC008537 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57008.1
BC001723 mRNA Translation: AAH01723.1 Different initiation.
BC036051 mRNA Translation: AAH36051.1
CCDSiCCDS12567.1 [Q96KS0-1]
RefSeqiNP_444274.1, NM_053046.3 [Q96KS0-1]
NP_542770.2, NM_080732.3 [Q96KS0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5V1BX-ray2.49A167-403[»]
SMRiQ96KS0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125184, 35 interactors
CORUMiQ96KS0
IntActiQ96KS0, 8 interactors
MINTiQ96KS0
STRINGi9606.ENSP00000469686

Chemistry databases

BindingDBiQ96KS0
ChEMBLiCHEMBL3028
DrugBankiDB00126, Ascorbic acid
DB04847, Roxadustat
DrugCentraliQ96KS0
GuidetoPHARMACOLOGYi2832

PTM databases

GlyGeniQ96KS0, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ96KS0
PhosphoSitePlusiQ96KS0

Genetic variation databases

BioMutaiEGLN2
DMDMi32129513

Proteomic databases

MassIVEiQ96KS0
MaxQBiQ96KS0
PaxDbiQ96KS0
PeptideAtlasiQ96KS0
PRIDEiQ96KS0
ProteomicsDBi77112 [Q96KS0-1]
77113 [Q96KS0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
66726, 441 antibodies

The DNASU plasmid repository

More...
DNASUi
112398

Genome annotation databases

EnsembliENST00000303961; ENSP00000307080; ENSG00000269858 [Q96KS0-1]
ENST00000406058; ENSP00000385253; ENSG00000269858 [Q96KS0-1]
ENST00000593726; ENSP00000469686; ENSG00000269858 [Q96KS0-1]
GeneIDi112398
KEGGihsa:112398
UCSCiuc002opg.5, human [Q96KS0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
112398
DisGeNETi112398

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EGLN2
HGNCiHGNC:14660, EGLN2
HPAiENSG00000269858, Low tissue specificity
MIMi606424, gene
neXtProtiNX_Q96KS0
OpenTargetsiENSG00000269858
PharmGKBiPA27671
VEuPathDBiHostDB:ENSG00000269858

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3710, Eukaryota
GeneTreeiENSGT00940000160655
HOGENOMiCLU_063064_0_0_1
InParanoidiQ96KS0
OMAiWSIGALM
PhylomeDBiQ96KS0
TreeFamiTF314595

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000171570-MONOMER
BRENDAi1.14.11.2, 2681
1.14.11.29, 2681
PathwayCommonsiQ96KS0
ReactomeiR-HSA-1234176, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
SIGNORiQ96KS0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
112398, 138 hits in 1021 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EGLN2

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

More...
GenomeRNAii
112398
PharosiQ96KS0, Tclin

Protein Ontology

More...
PROi
PR:Q96KS0
RNActiQ96KS0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000269858, Expressed in testis and 118 other tissues
ExpressionAtlasiQ96KS0, baseline and differential
GenevisibleiQ96KS0, HS

Family and domain databases

InterProiView protein in InterPro
IPR005123, Oxoglu/Fe-dep_dioxygenase
IPR006620, Pro_4_hyd_alph
SMARTiView protein in SMART
SM00702, P4Hc, 1 hit
PROSITEiView protein in PROSITE
PS51471, FE2OG_OXY, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiEGLN2_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: Q96KS0
Secondary accession number(s): A8K5S0, Q8WWY4, Q9BV14
<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: June 16, 2003
Last sequence update: December 1, 2001
Last modified: September 29, 2021
This is version 179 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, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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