MDC1 and H2AX

Number of citations: 0 (PubMedID 14519663)
Data Source: HPRD (in vivo)

		MDC1	H2AX
Name		mediator of DNA damage checkpoint 1	H2A.X variant histone
Structure
GO Annotations	Cellular Component	Nucleus Nucleoplasm Chromosome Focal Adhesion Nuclear Body Site Of Double-strand Break	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	Protein Binding Chromatin-protein Adaptor Activity Histone Reader 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	DNA Replication Checkpoint Signaling DNA Repair Chromatin Organization DNA Damage Response Mitotic Intra-S DNA Damage Checkpoint Signaling Protein K6-linked Ubiquitination Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Protein Localization To Site Of Double-strand Break	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		SUMOylation of DNA damage response and repair proteins 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 TP53 Regulates Transcription of DNA Repair Genes G2/M DNA damage checkpoint	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
GWAS		Autism spectrum disorder or schizophrenia ( 28540026 ) Eosinophil count ( 31272903 )	No GWAS studies recorded
Interacting Genes		42 interacting genes: ANAPC1 ATM BARD1 BDKRB1 BRCA1 CASP3 CENPC CHEK2 COPS5 CREBBP CSNK2A1 DTX2 EP300 GATA4 H2AX HDAC10 HDAC8 HINFP NBN NCL NSD2 PIAS1 PIAS4 PRIM1 PTEN RAD50 RAD51 RNF8 SMC1A SRPK2 SUMO2 TNKS2 TP53 TP53BP1 UIMC1 USP13 USP15 USP28 USP7 VAMP5 WRN ZNF251	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		9656	3014
HPRD ID		16252	03465
Ensembl ID		ENSG00000137337	ENSG00000188486
Uniprot IDs		A0A1U9XBC1 A0A1U9XBE3 A0A1U9XBF2 A1Z5I9 Q14676	P16104
PDB IDs		2ADO 2AZM 2ETX 3K05 3UEO 3UMZ 3UN0 3UNM 3UNN 3UOT 9IF9	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z 6K1I 6K1J 6K1K 6ZWK 7YQK
GO Terms Enriched among Interactors		DNA Repair DNA Damage Response DNA Metabolic Process Double-strand Break Repair Regulation Of Cellular Response To Stress Nucleoplasm Regulation Of DNA Metabolic Process Regulation Of DNA Repair Response To Ionizing Radiation Response To Radiation Negative Regulation Of Cell Cycle Phase Transition Cellular Response To Stress DNA Damage Checkpoint Signaling Post-translational Protein Modification Signal Transduction In Response To DNA Damage Negative Regulation Of Cell Cycle Process Negative Regulation Of Cell Cycle Positive Regulation Of DNA Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Chromosome DNA Recombination Nucleic Acid Metabolic Process Regulation Of DNA Recombination Nucleus Regulation Of Double-strand Break Repair Regulation Of Cell Cycle Phase Transition Chromatin Remodeling PML Body Macromolecule Metabolic Process Protein Modification Process Chromatin Organization Cellular Response To Radiation Regulation Of Double-strand Break Repair Via Homologous Recombination DNA Strand Resection Involved In Replication Fork Processing Positive Regulation Of Macromolecule Metabolic Process Response To Stress Double-strand Break Repair Via Homologous Recombination Positive Regulation Of Metabolic Process Regulation Of Cell Cycle Positive Regulation Of DNA Repair Recombinational Repair Positive Regulation Of Nucleobase-containing Compound Metabolic Process Site Of Double-strand Break Regulation Of Primary Metabolic Process Homologous Recombination Ubiquitin-modified Histone Reader Activity Nucleobase-containing Compound Metabolic Process Regulation Of Cell Cycle Process Cellular Response To Ionizing Radiation Positive Regulation Of DNA Recombination	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