EPAS1 [The Human Chemical-Genetic Interaction Map Project]

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======= EPAS1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EPAS1
  * **<color #00a2e8>Official Name</color>**: endothelial PAS domain protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2034|2034]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99814|Q99814]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EPAS1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EPAS1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603349|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) of target gene promoters. Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation seems to require recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD.

<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'>
|PAS|
|HIF-1|
|HIF-1a CTAD|
|PAS 3|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|myoblast fate commitment|
|surfactant homeostasis|
|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|
|norepinephrine metabolic process|
|chemical homeostasis within a tissue|
|histone acetyltransferase binding|
|blood vessel remodeling|
|myoblast differentiation|
|catecholamine metabolic process|
|catechol-containing compound metabolic process|
|regulation of transcription from RNA polymerase II promoter in response to hypoxia|
|erythrocyte differentiation|
|iron ion homeostasis|
|phenol-containing compound metabolic process|
|embryonic placenta development|
|erythrocyte homeostasis|
|regulation of heart rate|
|positive regulation of cold-induced thermogenesis|
|tissue remodeling|
|myeloid cell homeostasis|
|regulation of transcription from RNA polymerase II promoter in response to stress|
|regulation of DNA-templated transcription in response to stress|
|transition metal ion homeostasis|
|regulation of cold-induced thermogenesis|
|placenta development|
|cell maturation|
|lung development|
|respiratory tube development|
|cellular response to hypoxia|
|tissue homeostasis|
|respiratory system development|
|cellular response to decreased oxygen levels|
|homeostasis of number of cells|
|transcription factor complex|
|cellular response to oxygen levels|
|myeloid cell differentiation|
|visual perception|
|sensory perception of light stimulus|
|cellular response to oxidative stress|
|developmental maturation|
|regulation of heart contraction|
|cell fate commitment|
|regulation of blood circulation|
|angiogenesis|
|multicellular organismal homeostasis|
|transcription factor binding|
|anatomical structure homeostasis|
|response to hypoxia|
|response to decreased oxygen levels|
|post-translational protein modification|
|in utero embryonic development|
|response to oxygen levels|
|response to oxidative stress|
|nuclear speck|
|blood vessel morphogenesis|
|sequence-specific DNA binding|
|reproductive structure development|
|reproductive system development|
|embryonic organ development|
|mitochondrion organization|
|DNA-binding transcription activator activity, RNA polymerase II-specific|
|organic hydroxy compound metabolic process|
|muscle structure development|
|transcription by RNA polymerase II|
|blood vessel development|
|protein heterodimerization activity|
|vasculature development|
|cardiovascular system development|
|hemopoiesis|
|regulation of system process|
|hematopoietic or lymphoid organ development|
|metal ion homeostasis|
|chordate embryonic development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|immune system development|
|embryo development ending in birth or egg hatching|
|RNA biosynthetic process|
|tube morphogenesis|
|developmental process involved in reproduction|
|protein ubiquitination|
|cation homeostasis|
|inorganic ion homeostasis|
|protein modification by small protein conjugation|
|ion homeostasis|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|sensory perception|
|embryo development|
|protein modification by small protein conjugation or removal|
|nucleobase-containing compound biosynthetic process|
|chemical homeostasis|
|response to abiotic stimulus|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of transcription by RNA polymerase II|
|organic cyclic compound biosynthetic process|
|nervous system process|
|reproductive process|
|reproduction|
|DNA binding|
|positive regulation of transcription, DNA-templated|
|DNA-binding transcription factor activity, RNA polymerase II-specific|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cell development|
|RNA metabolic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|macromolecule biosynthetic process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' 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:exp336|Asunaprenir 3μM R07 exp336]]|-2.46|
|[[:results:exp142|OICR-9429 10μM R03 exp142]]|-2.39|
|[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|-2.2|
|[[:results:exp524|Staurosporine 0.02μM R08 exp524]]|-2.05|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|-1.83|
|[[:results:exp400|Senexin-A 25μM R07 exp400]]|-1.78|
|[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|1.74|
|[[:results:exp376|Losmapimod 1μM R07 exp376]]|1.81|
|[[:results:exp11|CCCP 1μM R00 exp11]]|1.84|
|[[:results:exp53|Suberoylanilide-Hydroxamic-Acid 0.02μM R01 exp53]]|1.87|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|1/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 8246
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 0.99 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EPAS1 Expression in NALM6 Cells: 0.99'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>