EYA1 [The Human Chemical-Genetic Interaction Map Project]

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======= EYA1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: EYA1
  * **<color #00a2e8>Official Name</color>**: EYA transcriptional coactivator and phosphatase 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2138|2138]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q99502|Q99502]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EYA1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EYA1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601653|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Functions both as protein phosphatase and as transcriptional coactivator for SIX1, and probably also for SIX2, SIX4 and SIX5 (By similarity). Tyrosine phosphatase that dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph) and promotes efficient DNA repair via the recruitment of DNA repair complexes containing MDC1. 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19234442). Its function as histone phosphatase may contribute to its function in transcription regulation during organogenesis (By similarity). Has also phosphatase activity with proteins phosphorylated on Ser and Thr residues (in vitro) (By similarity). Required for normal embryonic development of the craniofacial and trunk skeleton, kidneys and ears (By similarity). Together with SIX1, it plays an important role in hypaxial muscle development; in this it is functionally redundant with EYA2 (By similarity). {ECO:0000250|UniProtKB:P97767, ECO:0000269|PubMed:19234442}.

<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'>
|Hydrolase|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of secondary heart field cardioblast proliferation|
|histone dephosphorylation|
|mesodermal cell fate specification|
|semicircular canal morphogenesis|
|semicircular canal development|
|regulation of secondary heart field cardioblast proliferation|
|otic vesicle morphogenesis|
|outer ear morphogenesis|
|regulation of cardioblast proliferation|
|mesodermal cell fate commitment|
|otic vesicle development|
|regulation of cell proliferation involved in heart morphogenesis|
|middle ear morphogenesis|
|cochlea morphogenesis|
|mesodermal cell differentiation|
|pharyngeal system development|
|aorta morphogenesis|
|cell fate commitment involved in formation of primary germ layer|
|neuron fate specification|
|negative regulation of signal transduction in absence of ligand|
|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand|
|regulation of animal organ formation|
|regulation of heart morphogenesis|
|branching involved in ureteric bud morphogenesis|
|protein-DNA complex|
|regulation of extrinsic apoptotic signaling pathway in absence of ligand|
|cochlea development|
|aorta development|
|ureteric bud morphogenesis|
|mesonephric tubule morphogenesis|
|artery morphogenesis|
|nephron tubule morphogenesis|
|neuron fate commitment|
|protein sumoylation|
|nephron epithelium morphogenesis|
|positive regulation of DNA repair|
|mesoderm formation|
|nephron morphogenesis|
|renal tubule morphogenesis|
|mesoderm morphogenesis|
|outflow tract morphogenesis|
|nephron tubule development|
|renal tubule development|
|metanephros development|
|kidney morphogenesis|
|artery development|
|ureteric bud development|
|mesonephric epithelium development|
|mesonephric tubule development|
|cell fate specification|
|mesonephros development|
|embryonic skeletal system morphogenesis|
|nephron epithelium development|
|inner ear morphogenesis|
|positive regulation of response to DNA damage stimulus|
|protein tyrosine phosphatase activity|
|negative regulation of extrinsic apoptotic signaling pathway|
|peptidyl-tyrosine dephosphorylation|
|formation of primary germ layer|
|ear morphogenesis|
|mesoderm development|
|regulation of DNA repair|
|nephron development|
|embryonic skeletal system development|
|kidney epithelium development|
|branching morphogenesis of an epithelial tube|
|sensory perception of sound|
|response to ionizing radiation|
|regulation of extrinsic apoptotic signaling pathway|
|morphogenesis of a branching epithelium|
|gastrulation|
|sensory perception of mechanical stimulus|
|morphogenesis of a branching structure|
|double-strand break repair|
|positive regulation of epithelial cell proliferation|
|positive regulation of DNA metabolic process|
|inner ear development|
|protein dephosphorylation|
|regulation of response to DNA damage stimulus|
|ear development|
|negative regulation of apoptotic signaling pathway|
|skeletal system morphogenesis|
|cell fate commitment|
|heart morphogenesis|
|sensory organ morphogenesis|
|regulation of animal organ morphogenesis|
|kidney development|
|nuclear body|
|striated muscle tissue development|
|renal system development|
|embryonic organ morphogenesis|
|muscle tissue development|
|epithelial tube morphogenesis|
|dephosphorylation|
|peptidyl-lysine modification|
|urogenital system development|
|regulation of epithelial cell proliferation|
|regulation of DNA metabolic process|
|histone modification|
|covalent chromatin modification|
|regulation of apoptotic signaling pathway|
|blood vessel morphogenesis|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|response to radiation|
|blood vessel development|
|skeletal system development|
|DNA repair|
|vasculature development|
|cardiovascular system development|
|heart development|
|sensory organ development|
|tissue morphogenesis|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|regulation of neuron differentiation|
|chromatin organization|
|regulation of cellular response to stress|
|DNA metabolic process|
|protein modification by small protein conjugation|
|cellular response to DNA damage stimulus|
|regulation of neurogenesis|
|tube development|
|circulatory system development|
|peptidyl-amino acid modification|
|negative regulation of apoptotic process|
|anatomical structure formation involved in morphogenesis|
|negative regulation of programmed cell death|
|positive regulation of cell population proliferation|
|regulation of nervous system development|
|regulation of cell development|
|animal organ morphogenesis|
|sensory perception|
|embryo development|
|protein modification by small protein conjugation or removal|
|negative regulation of cell death|
|neuron differentiation|
|regulation of anatomical structure morphogenesis|
|chromosome organization|
|epithelium development|
|response to abiotic stimulus|
|positive regulation of transcription by RNA polymerase II|
|negative regulation of signal transduction|
|negative regulation of cell communication|
|negative regulation of signaling|
|nervous system process|
|RNA binding|
|regulation of response to stress|
|generation of neurons|
|regulation of apoptotic process|
|positive regulation of transcription, DNA-templated|
|regulation of programmed cell death|
|regulation of cell population proliferation|
|negative regulation of response to stimulus|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|regulation of cell death|
|cellular response to stress|
|positive regulation of RNA metabolic process|
|tissue development|
|regulation of cell differentiation|
|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|
|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:exp277|Curcumin 6.5μM R06 exp277]]|-2.21|
|[[:results:exp451|Atovaquone 15μM R08 exp451]]|-1.74|
|[[:results:exp362|GSK-J4 1μM R07 exp362]]|-1.73|
|[[:results:exp52|Ribavirin 10μM R01 exp52]]|2.01|
</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: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|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>**: 13977
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.98 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='EYA1 Expression in NALM6 Cells: -0.98'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>