EYA1

Description		EYA transcriptional coactivator and phosphatase 1
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Nuclear Body Protein-DNA Complex
	Molecular Function	RNA Binding Protein Tyrosine Phosphatase Activity Protein Binding Metal Ion Binding
	Biological Process	Metanephros Development Branching Involved In Ureteric Bud Morphogenesis Outflow Tract Morphogenesis Double-strand Break Repair Pattern Specification Process Mesodermal Cell Fate Specification Sensory Perception Of Sound Anatomical Structure Morphogenesis Response To Ionizing Radiation Striated Muscle Tissue Development Histone Dephosphorylation Protein Sumoylation Cell Differentiation Peptidyl-tyrosine Dephosphorylation Aorta Morphogenesis Outer Ear Morphogenesis Middle Ear Morphogenesis Regulation Of Neuron Differentiation Positive Regulation Of DNA Repair Positive Regulation Of Transcription By RNA Polymerase II Neuron Fate Specification Embryonic Skeletal System Morphogenesis Semicircular Canal Morphogenesis Anatomical Structure Development Positive Regulation Of Epithelial Cell Proliferation Pharyngeal System Development Otic Vesicle Morphogenesis Positive Regulation Of Secondary Heart Field Cardioblast Proliferation Cochlea Morphogenesis Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Pathways		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Drugs
Diseases		Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
GWAS		Adolescent idiopathic scoliosis ( 30395268) Chin dimples ( 27182965) Chronic obstructive pulmonary disease-related biomarkers ( 23144326) Heel bone mineral density ( 30598549 28869591) Hypospadias ( 25108383) Longevity (85 years and older) ( 24688116) Paneth cell defects in Crohn's disease ( 28352666) Sleep-related phenotypes ( 17903308) Vertical cup-disc ratio (adjusted for vertical disc diameter) ( 31959993) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) Waist-to-hip ratio adjusted for BMI ( 26426971) Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) ( 28448500) Waist-to-hip ratio adjusted for BMI in active individuals ( 28448500) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971) Waist-to-hip ratio adjusted for body mass index ( 28448500)
Interacting Genes		9 interacting genes: DACH1 GNAI2 GNAZ GSK3B H2AX NDUFB9 SIX1 SIX2 SIX3
Entrez ID		2138
HPRD ID		03388
Ensembl ID		ENSG00000104313
Uniprot IDs		A0A024R813 A0A2R8Y6K4 A6NCB9 B3KXR1 F8WB53 Q0P517 Q99502
PDB IDs
Enriched GO Terms of Interacting Partners?
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