SIX3 and EYA1

Number of citations: 42 (PubMedID 10490620)
Data Source: HPRD (in vitro, in vivo)

		SIX3	EYA1
Name		SIX homeobox 3	EYA transcriptional coactivator and phosphatase 1
Structure		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus Transcription Regulator Complex	Nucleus Nucleoplasm Cytoplasm Nuclear Body Protein-containing Complex Protein-DNA Complex
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Transcription Corepressor Binding DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA Binding Protein Binding Histone Deacetylase Binding Sequence-specific DNA Binding Sequence-specific Double-stranded DNA Binding	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	Eye Development Epithelial Cell Maturation Lens Development In Camera-type Eye Optic Vesicle Morphogenesis Regulation Of Transcription By RNA Polymerase II Protein Import Into Nucleus Brain Development Visual Perception Gonad Development Proximal/distal Axis Specification Neuroblast Differentiation Diencephalon Development Telencephalon Development Forebrain Anterior/posterior Pattern Specification Forebrain Dorsal/ventral Pattern Formation Cell Proliferation In Forebrain Telencephalon Regionalization Pituitary Gland Development Negative Regulation Of Wnt Signaling Pathway Thyroid Gland Development Multicellular Organism Growth Regulation Of Cell Population Proliferation Camera-type Eye Development Negative Regulation Of Neuron Differentiation Negative Regulation Of DNA-templated Transcription Positive Regulation Of Transcription By RNA Polymerase II Circadian Behavior Lens Induction In Camera-type Eye Regulation Of Neural Retina Development Lens Fiber Cell Differentiation Neuroblast Migration Regulation Of Cell Cycle Phase Transition Regulation Of Neuroblast Proliferation Apoptotic Process Involved In Development Lens Fiber Cell Apoptotic Process Regulation Of Neural Precursor Cell Proliferation	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		None	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Formation of the ureteric bud
Diseases		Holoprosencephaly (HPE)	Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)
GWAS		Adventurousness ( 30643258 ) Age at first sexual intercourse ( 34211149 ) Alcohol and nicotine co-dependence ( 22488850 ) Alcohol consumption ( 31358974 ) Alcohol consumption (drinks per week) ( 30679032 30643258 ) Alcohol use disorder ( 30940813 ) Blood sugar levels ( 29403010 ) Brain morphology (min-P) ( 32665545 ) Brain morphology (MOSTest) ( 32665545 ) Clozapine-induced myocarditis in schizophrenia ( 32066683 ) Cortical surface area (min-P) ( 32665545 ) Cortical surface area (MOSTest) ( 32665545 ) Cortical thickness (MOSTest) ( 32665545 ) Fasting blood glucose ( 29621232 33842983 ) Fasting glucose ( 34059833 ) Fasting plasma glucose ( 25187374 ) Fish- and plant-related diet ( 32066663 ) Fruit consumption ( 32066663 ) General risk tolerance (MTAG) ( 30643258 ) Glycated hemoglobin levels ( 29170429 34059833 ) Hemoglobin A1c levels ( 29403010 ) Intraocular pressure ( 30054594 29785010 31959993 ) Irritable mood ( 29500382 ) Lung cancer ( 28604730 ) Metabolite levels ( 21909109 ) Myopia ( 27182965 ) Optic disc size ( 31809533 ) Problematic alcohol use ( 32451486 ) Refractive error ( 32231278 ) Risk-taking tendency (4-domain principal component model) ( 30643258 ) Self-reported risk-taking behaviour ( 30271922 ) Smoking behaviour (cigarette pack-years) ( 30679032 ) Smoking initiation ( 30617275 ) Smoking initiation (ever regular vs never regular) ( 30679032 ) Smoking status (ever vs never smokers) ( 30643258 ) Spherical equivalent or myopia (age of diagnosis) ( 29808027 ) Subcortical volume (min-P) ( 32665545 ) Subcortical volume (MOSTest) ( 32665545 ) Type 2 diabetes ( 32499647 )	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 )
Interacting Genes		8 interacting genes: EYA1 GMNN NR4A3 OTUD3 PAX6 TLE1 TLE3 TLE5	9 interacting genes: DACH1 GNAI2 GNAZ GSK3B H2AX PLK1 SIX1 SIX2 SIX3
Entrez ID		6496	2138
HPRD ID		04756	03388
Ensembl ID		ENSG00000138083	ENSG00000104313
Uniprot IDs		O95343	A0A2R8Y6K4 A0A2R8YET7 A0A2R8YGM9 A6NCB9 B3KXR1 F8WB53 Q0P517 Q99502
PDB IDs		Not available	Not available
GO Terms Enriched among Interactors		Transcription Corepressor Activity Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process Animal Organ Morphogenesis Regulation Of RNA Metabolic Process Negative Regulation Of DNA-templated Transcription Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of RNA Biosynthetic Process Semicircular Canal Morphogenesis Negative Regulation Of RNA Metabolic Process Anatomical Structure Morphogenesis Negative Regulation Of Nucleobase-containing Compound Metabolic Process Beta-catenin-TCF Complex Negative Regulation Of Canonical Wnt Signaling Pathway Regulation Of Gene Expression Regulation Of Macromolecule Biosynthetic Process Regulation Of Primary Metabolic Process Cell Surface Receptor Signaling Pathway Negative Regulation Of Wnt Signaling Pathway Regulation Of Anoikis Histone Acetyltransferase Binding Negative Regulation Of Macromolecule Biosynthetic Process Regulation Of Macromolecule Metabolic Process Negative Regulation Of Biosynthetic Process Transcription Regulator Complex Negative Regulation Of Signal Transduction Regulation Of Canonical Wnt Signaling Pathway Regulation Of Metabolic Process Wnt Signaling Pathway Negative Regulation Of Cell Communication Negative Regulation Of Macromolecule Metabolic Process Negative Regulation Of Signaling Inner Ear Morphogenesis Regulation Of Wnt Signaling Pathway Negative Regulation Of Metabolic Process Nucleus Otic Vesicle Morphogenesis Forebrain-midbrain Boundary Formation Pancreatic A Cell Development Positive Regulation Of Mast Cell Activation By Fc-epsilon Receptor Signaling Pathway Energy Homeostasis Regulation Of Epithelial Cell Proliferation Cell Fate Specification Embryonic Morphogenesis Positive Regulation Of Monocyte Aggregation Vestibular Reflex Developmental Process Histone H2AXY142 Phosphatase Activity Positive Regulation Of Secondary Heart Field Cardioblast Proliferation Habenula Development	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