EYA1 and H2AX

Number of citations: 42 (PubMedID 27795300)
Data Source: BioGRID (enzymatic study, affinity chromatography technology)

		EYA1	H2AX
Name		EYA transcriptional coactivator and phosphatase 1	H2A.X variant histone
Structure		No pdb structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Nuclear Body Protein-containing Complex Protein-DNA Complex	Chromosome, Telomeric Region Chromatin Nucleosome Condensed Nuclear Chromosome Male Germ Cell Nucleus XY Body Nucleus Nucleoplasm Replication Fork Chromosome Centrosome Nuclear Speck Site Of Double-strand Break Extracellular Exosome Site Of DNA Damage
	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	DNA Binding Damaged DNA Binding Protein Binding Enzyme Binding Structural Constituent Of Chromatin Histone Binding Protein Heterodimerization Activity Chromatin-protein Adaptor 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	DNA Damage Checkpoint Signaling Double-strand Break Repair Via Homologous Recombination DNA Repair Double-strand Break Repair DNA Recombination Nucleosome Assembly DNA Damage Response Spermatogenesis Response To Ionizing Radiation Heterochromatin Formation Positive Regulation Of DNA Repair Meiotic Cell Cycle Protein K63-linked Ubiquitination Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Protein Localization To Site Of Double-strand Break
Pathways		Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Formation of the ureteric bud	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends Deposition of new CENPA-containing nucleosomes at the centromere Assembly of the ORC complex at the origin of replication G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Replacement of protamines by nucleosomes in the male pronucleus MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Regulation of PD-L1(CD274) transcription
Diseases		Contiguous gene deletion syndrome involving EYA1, including: Oto-facio-cervical syndrome (OFC); Branchiootic syndrome 1 (BOS1); Branchio-oto-renal syndrome (BOR)	None
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 )	No GWAS studies recorded
Interacting Genes		9 interacting genes: DACH1 GNAI2 GNAZ GSK3B H2AX PLK1 SIX1 SIX2 SIX3	47 interacting genes: A2M ACTB ALG9 ATM ATR BAZ1B BMI1 BRCA1 BRCA2 BRD1 CALM1 COPG1 CTBP1 DDX21 EYA1 GRB2 HDAC6 HUWE1 KAT5 MAPK8 MASP1 MDC1 MRE11 MUC1 NBN NCL NGFR OTUB1 PAXIP1 PBK PPP1CA PRKDC PTEN PTPA QARS1 RNF8 RPS6KA3 SMARCA4 SUPT5H TAF1C TAF5L TERF2 TIAM2 TP53BP1 TRAF6 TSSK6 WRN
Entrez ID		2138	3014
HPRD ID		03388	03465
Ensembl ID		ENSG00000104313	ENSG00000188486
Uniprot IDs		A0A2R8Y6K4 A0A2R8YET7 A0A2R8YGM9 A6NCB9 B3KXR1 F8WB53 Q0P517 Q99502	P16104
PDB IDs		Not available	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z 6K1I 6K1J 6K1K 6ZWK 7YQK
GO Terms Enriched among Interactors		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	Regulation Of Cellular Response To Stress Regulation Of DNA Repair DNA Damage Response Signal Transduction In Response To DNA Damage Positive Regulation Of DNA Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Chromatin Organization Chromatin Remodeling Regulation Of DNA Metabolic Process DNA Repair Double-strand Break Repair Protein Localization To Site Of Double-strand Break Response To Ionizing Radiation Regulation Of Double-strand Break Repair Nucleoplasm Positive Regulation Of Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process DNA Metabolic Process Cellular Response To Stress Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of DNA Repair Regulation Of Cell Cycle Process Protein Localization To Chromosome Response To Radiation DNA Strand Resection Involved In Replication Fork Processing Chromosome, Telomeric Region Regulation Of Primary Metabolic Process Intracellular Signal Transduction Double-strand Break Repair Via Nonhomologous End Joining Regulation Of DNA Recombination Nucleic Acid Metabolic Process Positive Regulation Of Double-strand Break Repair DNA Damage Checkpoint Signaling Telomere Maintenance Regulation Of Cell Cycle Phase Transition Negative Regulation Of Cell Cycle Process Regulation Of Cell Cycle Chromosome Positive Regulation Of DNA Recombination Positive Regulation Of RNA Metabolic Process Regulation Of Macromolecule Metabolic Process Response To Stress Telomere Organization Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Regulation Of Metabolic Process Negative Regulation Of Cell Cycle Nucleus Negative Regulation Of Cell Cycle Phase Transition Mitotic DNA Damage Checkpoint Signaling