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Tclin
EGLN1
Egl nine homolog 1

Protein Summary
Description
Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. 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. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recogniz ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000366641
  • ENSP00000355601
  • ENSG00000135766

Symbol
  • C1orf12
  • HPH2
  • PHD2
  • SM20
  • ECYT3
  • HALAH
  • HPH-2
  • HIFPH2
  • ZMYND6
  • C1orf12
  • HIF-PH2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.97
kinase perturbation
0.93
biological process
0.9
disease perturbation
0.9
virus perturbation
0.85


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 446.85   (req: < 5)
Gene RIFs: 117   (req: <= 3)
Antibodies: 546   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 446.85   (req: >= 5)
Gene RIFs: 117   (req: > 3)
Antibodies: 546   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 23
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 260
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
roxadustat
chemical structure image
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
2
2
2
81.3
red blood cell density measurement
1
1
1
70.8
hemoglobin measurement
1
1
1
70.5
erythrocyte count
1
1
1
16.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
hematocrit
2
81.3
red blood cell density measurement
1
70.8
hemoglobin measurement
1
70.5
erythrocyte count
1
16.2
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
egl-9 family hypoxia inducible factor 1
VGNC:9857
469708
Macaque
egl-9 family hypoxia inducible factor 1
713410
Mouse
MGI:1932286
112405
Dog
egl-9 family hypoxia inducible factor 1
VGNC:40240
488971
Horse
egl-9 family hypoxia inducible factor 1
VGNC:51494
100060551
Species
Name
OMA
EggNOG
Inparanoid
Chimp
egl-9 family hypoxia inducible factor 1
Macaque
egl-9 family hypoxia inducible factor 1
Mouse
Dog
egl-9 family hypoxia inducible factor 1
Horse
egl-9 family hypoxia inducible factor 1
Protein Structure (32 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9GZT9-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 32
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (35)
Cellular response to hypoxia (R-HSA-1234174)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cellular response to hypoxia
Reactome
Cellular responses to external stimuli
Reactome
Cellular responses to stress
Reactome
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Name
Explore in Pharos
Explore in Source
Cellular response to hypoxia
Cellular responses to external stimuli
Cellular responses to stress
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Gene Ontology Terms (28)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
MGI
Inferred from Direct Assay (IDA)
FlyBase
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Traceable Author Statement (TAS)
HGNC
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (184)
1 – 10 of 184
EEF1AKMT1
Tdark
Family: Enzyme
Novelty: 0.22249584
p_int: 0.93056127
p_ni: 0.06943873
Score: 0.359
Data Source: BioPlex,STRINGDB
CBWD1
Tbio
Novelty: 0.04321511
p_int: 0.817114935
p_ni: 0.182885064
p_wrong: 1e-9
Score: 0.209
Data Source: BioPlex,STRINGDB
BTF3
Tbio
Novelty: 0.01198537
p_int: 0.799473653
p_ni: 0.200526347
Data Source: BioPlex
HIF1A
Tchem
Family: TF
Novelty: 0.00011503
Score: 0.999
Data Source: Reactome,STRINGDB
EPAS1
Tchem
Novelty: 0.00307448
Score: 0.997
Data Source: Reactome,STRINGDB
AKT1
Tchem
Family: Kinase
Novelty: 0.00003185
Score: 0.995
Data Source: STRINGDB
AKT2
Tchem
Family: Kinase
Novelty: 0.00167027
Score: 0.993
Data Source: STRINGDB
VHL
Tchem
Family: Enzyme
Novelty: 0.00285782
Score: 0.989
Data Source: Reactome,STRINGDB
OS9
Tbio
Novelty: 0.01490339
Score: 0.974
Data Source: STRINGDB
HIF3A
Tbio
Novelty: 0.01505965
Score: 0.973
Data Source: Reactome,STRINGDB
Publication Statistics
PubMed Score  446.85

PubMed score by year
PubTator Score  257.47

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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