EGLN1 [The Human Chemical-Genetic Interaction Map Project]

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======= EGLN1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EGLN1
  * **<color #00a2e8>Official Name</color>**: egl-9 family hypoxia inducible factor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54583|54583]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9GZT9|Q9GZT9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EGLN1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EGLN1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606425|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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 recognized via a LXXLAP motif. {ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:12351678, ECO:0000269|PubMed:15897452, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:21792862, ECO:0000269|PubMed:25129147}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|zf-MYND|
|2OG-FeII Oxy|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peptidyl-proline dioxygenase activity|
|peptidyl-proline 4-dioxygenase activity|
|negative regulation of cyclic-nucleotide phosphodiesterase activity|
|oxygen homeostasis|
|peptidyl-proline hydroxylation to 4-hydroxy-L-proline|
|regulation of cyclic-nucleotide phosphodiesterase activity|
|gas homeostasis|
|peptidyl-proline hydroxylation|
|4-hydroxyproline metabolic process|
|2-oxoglutarate-dependent dioxygenase activity|
|response to nitric oxide|
|L-ascorbic acid binding|
|protein hydroxylation|
|ferrous iron binding|
|response to bronchodilator|
|peptidyl-proline modification|
|regulation of transcription from RNA polymerase II promoter in response to hypoxia|
|regulation of transcription from RNA polymerase II promoter in response to stress|
|regulation of DNA-templated transcription in response to stress|
|negative regulation of DNA-binding transcription factor activity|
|cellular response to hypoxia|
|response to reactive oxygen species|
|cellular modified amino acid metabolic process|
|cellular response to decreased oxygen levels|
|alpha-amino acid metabolic process|
|cellular response to oxygen levels|
|regulation of angiogenesis|
|cellular amino acid metabolic process|
|regulation of vasculature development|
|response to hypoxia|
|enzyme binding|
|response to decreased oxygen levels|
|response to oxygen levels|
|response to oxidative stress|
|regulation of DNA-binding transcription factor activity|
|negative regulation of hydrolase activity|
|response to inorganic substance|
|negative regulation of catalytic activity|
|peptidyl-amino acid modification|
|carboxylic acid metabolic process|
|oxidation-reduction process|
|oxoacid metabolic process|
|response to drug|
|organic acid metabolic process|
|regulation of anatomical structure morphogenesis|
|response to nitrogen compound|
|chemical homeostasis|
|negative regulation of molecular function|
|response to abiotic stimulus|
|regulation of hydrolase activity|
|response to oxygen-containing compound|
|homeostatic process|
|cellular response to stress|
|small molecule metabolic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp229|Dimethyloxaloylglycine 100μM R05 exp229]]|-3.32|
|[[:results:exp314|Dimethyloxaloylglycine 11μM R07 exp314]]|-2.85|
|[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|-2.04|
|[[:results:exp220|BAY-598 4μM R05 exp220]]|-1.95|
|[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|-1.84|
|[[:results:exp303|39°C R06 exp303]]|-1.73|
|[[:results:exp162|BI-D1870 2μM R04 exp162]]|-1.72|
|[[:results:exp289|Hydroxyurea 15μM R06 exp289]]|-1.72|
|[[:results:exp399|Salubrinal 20μM R07 exp399]]|1.74|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|2.11|
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|2.21|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:scaf8|SCAF8]]|0.426|
|[[:human genes:a:atp5b|ATP5B]]|0.414|
|[[:human genes:m:maml1|MAML1]]|0.408|
|[[:human genes:p:ppp6c|PPP6C]]|0.406|
|[[:human genes:i:id3|ID3]]|0.404|
|[[:human genes:v:vhl|VHL]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 22/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|1/25|
|breast|0/33|
|central nervous system|1/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|1/15|
|kidney|1/21|
|liver|2/20|
|lung|1/75|
|lymphocyte|0/14|
|ovary|2/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|4/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9586
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.62 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EGLN1 Expression in NALM6 Cells: 5.62'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>