EYA1

Description		EYA transcriptional coactivator and phosphatase 1
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Nuclear Body Protein-containing Complex Protein-DNA Complex
	Molecular Function	RNA Binding Phosphoprotein Phosphatase Activity Protein Serine/threonine Phosphatase Activity Protein Tyrosine Phosphatase Activity Protein Binding Hydrolase Activity Metal Ion Binding Histone H2AXY142 Phosphatase Activity
	Biological Process	Metanephros Development Ureteric Bud Development Branching Involved In Ureteric Bud Morphogenesis Outflow Tract Morphogenesis DNA Repair Double-strand Break Repair Chromatin Organization Chromatin Remodeling DNA Damage Response Pattern Specification Process Mesodermal Cell Fate Specification Sensory Perception Of Sound Anatomical Structure Morphogenesis Animal Organ Morphogenesis Response To Ionizing Radiation Striated Muscle Tissue Development Protein Sumoylation Cell Differentiation Aorta Morphogenesis Inner Ear Morphogenesis Outer Ear Morphogenesis Middle Ear Morphogenesis Cell Fate Commitment Regulation Of Neuron Differentiation Positive Regulation Of DNA Repair Positive Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Neuron Fate Specification Embryonic Skeletal System Morphogenesis Semicircular Canal Morphogenesis Epithelial Cell Proliferation Positive Regulation Of Epithelial Cell Proliferation Pharyngeal System Development Otic Vesicle Development Otic Vesicle Morphogenesis Positive Regulation Of Secondary Heart Field Cardioblast Proliferation Cochlea Morphogenesis Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand 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 Formation of the ureteric bud
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) Alanine aminotransferase levels ( 34315874 33547301) Aspartate aminotransferase levels ( 34315874 33547301) Bell's palsy ( 33602968) Chin dimples ( 27182965) Chronic obstructive pulmonary disease-related biomarkers ( 23144326) Heel bone mineral density ( 28869591 30598549) 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)
Novel Interacting Genes		10 novel interacting genes: DACH1 GNAI2 GNAZ GSK3B H2AX NDUFB9 PLK1 SIX1 SIX2 SIX3
Interacting Genes		10 interacting genes: DACH1 GNAI2 GNAZ GSK3B H2AX NDUFB9 PLK1 SIX1 SIX2 SIX3
Entrez ID		2138
HPRD ID		03388
Ensembl ID		ENSG00000104313
Uniprot IDs		A0A2R8Y6K4 A0A2R8YET7 A0A2R8YGM9 A6NCB9 B3KXR1 F8WB53 Q0P517 Q99502
PDB IDs
Enriched GO Terms of Interacting Partners?		Protein Localization To Nucleus Transcription Regulator Complex Protein Localization To Organelle Cell Population Proliferation Mesenchymal Cell Differentiation Guanyl Nucleotide Binding G-protein Beta/gamma-subunit Complex Binding Middle Ear Morphogenesis Regulation Of Branching Involved In Ureteric Bud Morphogenesis Heterotrimeric G-protein Complex Regulation Of Neuron Differentiation Protein Localization To Site Of Double-strand Break Embryonic Cranial Skeleton Morphogenesis Mesenchymal Cell Proliferation Thyroid Gland Development Developmental Induction Regulation Of Cell Cycle Chromatin Regulation Of Kidney Development Peptidyl-serine Phosphorylation Centrosome Regulation Of Morphogenesis Of A Branching Structure Negative Regulation Of Macromolecule Biosynthetic Process Regulation Of Cell Cycle Process Negative Regulation Of Biosynthetic Process Regulation Of Transcription By RNA Polymerase II Adenylate Cyclase-inhibiting G Protein-coupled Receptor Signaling Pathway Positive Regulation Of Metabolic Process G Protein-coupled Receptor Binding Cell Body Negative Regulation Of Apoptotic Process Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Superior Temporal Gyrus Development Negative Regulation Of Type B Pancreatic Cell Development Negative Regulation Of Neuron Differentiation Negative Regulation Of Mesenchymal Stem Cell Differentiation Negative Regulation Of Glycogen (starch) Synthase Activity Regulation Of Microtubule Anchoring At Centrosome Regulation Of Double-strand Break Repair Via Homologous Recombination Synaptonemal Complex Disassembly Golgi Inheritance Ureter Smooth Muscle Cell Differentiation Regulation Of Morphogenesis Of An Epithelium Regulation Of Animal Organ Morphogenesis Mesenchymal Cell Proliferation Involved In Ureter Development Embryonic Skeletal System Morphogenesis Cellular Response To 3,3',5-triiodo-L-thyronine Positive Regulation Of Mesenchymal Cell Proliferation Involved In Ureter Development Cell Fate Specification Fungiform Papilla Morphogenesis
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