ATRX and BLM

Number of citations of the paper that reports this interaction (PubMedID 34780483)
113

Data Source:
BioGRID (proximity labelling technology, pull down, pull down)

		ATRX	BLM
Description		ATRX chromatin remodeler	BLM RecQ like helicase
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GO Annotations	Cellular Component	Nuclear Chromosome Condensed Chromosome, Centromeric Region Chromosome, Telomeric Region Heterochromatin Nucleus Nucleoplasm Chromosome Pericentric Heterochromatin Nuclear Body PML Body Chromosome, Subtelomeric Region	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body RecQ Family Helicase-topoisomerase III Complex Protein-containing Complex
	Molecular Function	Nucleotide Binding DNA Binding Chromatin Binding Helicase Activity Protein Binding ATP Binding Zinc Ion Binding DNA Translocase Activity Hydrolase Activity ATP Hydrolysis Activity Chromatin DNA Binding Histone Binding Metal Ion Binding Histone H3K9me2/3 Reader Activity Chromo Shadow Domain Binding	Nucleotide Binding Four-way Junction DNA Binding Y-form DNA Binding Bubble DNA Binding P53 Binding Nucleic Acid Binding DNA Binding DNA Helicase Activity Single-stranded DNA Binding Helicase Activity Protein Binding ATP Binding ATP-dependent Activity, Acting On DNA Zinc Ion Binding Four-way Junction Helicase Activity Hydrolase Activity Hydrolase Activity, Acting On Acid Anhydrides, In Phosphorus-containing Anhydrides Isomerase Activity ATP Hydrolysis Activity Identical Protein Binding Protein Homodimerization Activity 3'-5' DNA Helicase Activity Metal Ion Binding G-quadruplex DNA Binding Forked DNA-dependent Helicase Activity Telomeric D-loop Binding Telomeric G-quadruplex DNA Binding 8-hydroxy-2'-deoxyguanosine DNA Binding DNA/DNA Annealing Activity
	Biological Process	Meiotic Spindle Organization DNA Repair Chromatin Organization Nucleosome Assembly Chromatin Remodeling Regulation Of DNA-templated Transcription Transcription By RNA Polymerase II DNA Damage Response Spermatogenesis Regulation Of Cell Cycle Process Positive Regulation Of Nuclear Cell Cycle DNA Replication DNA Damage Response, Signal Transduction By P53 Class Mediator Forebrain Development Replication Fork Processing Subtelomeric Heterochromatin Formation Positive Regulation Of Telomere Maintenance Regulation Of Chromosome Organization Post-embryonic Forelimb Morphogenesis Multicellular Organism Growth Positive Regulation Of Transcription By RNA Polymerase II Sertoli Cell Development Chromosome Organization Involved In Meiotic Cell Cycle Protein Localization To Chromosome, Telomeric Region Seminiferous Tubule Development Cellular Response To Hydroxyurea Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Telomeric	Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Replication DNA Repair DNA Recombination DNA Damage Response Mitotic G2 DNA Damage Checkpoint Signaling Response To X-ray Replication Fork Processing Telomere Maintenance Via Semi-conservative Replication DNA Geometric Change Positive Regulation Of DNA-templated Transcription Negative Regulation Of DNA Recombination Protein Complex Oligomerization Protein Homooligomerization Negative Regulation Of Cell Division Telomeric D-loop Disassembly Resolution Of DNA Recombination Intermediates Cellular Response To Ionizing Radiation Cellular Response To Hydroxyurea Cellular Response To Camptothecin T-circle Formation
Pathways		Inhibition of DNA recombination at telomere Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations	Processive synthesis on the C-strand of the telomere SUMOylation of DNA damage response and repair proteins HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Meiotic recombination Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2
Drugs
Diseases		Non-syndromic X-linked mental retardation Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX) Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD	Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
GWAS		Platelet count ( 32888494) Plateletcrit ( 32888494)	Coronary artery disease ( 32469254) Daytime sleep phenotypes ( 27126917)
Interacting Genes		33 interacting genes: ATN1 AURKA BLM BRD9 CALM1 CBS CCSER2 CEP126 CLIC6 CREBBP DAXX DSCAM EZH2 H3C14 HDAC1 HDAC4 LUC7L2 MDM2 NEK1 NSD1 PTN PTPN4 RAD51 RAD51AP1 RASSF1 RBM11 SLX9 SUMO2 SVIL WRN ZBED1 ZMYND8 ZNF512B	39 interacting genes: ATR ATRX BRIP1 CASP3 CHAF1A CHEK1 DNA2 EXO1 FANCD2 FBXW7 FEN1 JUN MCRS1 MIB1 MLH1 MX1 NEK11 PSMD3 RAD51 RAD51D RNF4 RNF8 RPA1 SMC1A SPIDR SUMO1 SUMO2 SUMO3 SYN1 TERF1 TERF2 TOP3A TP53 TP53BP1 TRIM49 UBE2I UPF2 USP37 WRN
Entrez ID		546	641
HPRD ID		02069	05211
Ensembl ID		ENSG00000085224	ENSG00000197299
Uniprot IDs		A4LAA3 B4DLW1 P46100	B7ZKN7 H0YNU5 P54132
PDB IDs		2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O	2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K 7AUC 7AUD 7XUW 7XV0
Enriched GO Terms of Interacting Partners?		Nucleoplasm SUMO Transferase Activity Recombinational Repair P53 Binding Double-strand Break Repair Via Homologous Recombination Cellular Response To Ionizing Radiation Transcription Corepressor Activity Nucleus Cellular Response To Radiation PML Body Forked DNA-dependent Helicase Activity Chromatin Remodeling Chromatin Organization Protein Sumoylation Chromatin Double-strand Break Repair Cellular Response To Stress Chromosome DNA Recombination Response To Ionizing Radiation Regulation Of Cell Cycle Process 8-hydroxy-2'-deoxyguanosine DNA Binding Telomeric G-quadruplex DNA Binding Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Cell Division Telomeric D-loop Binding Y-form DNA Binding Chromosome, Telomeric Region Negative Regulation Of DNA-templated Transcription Negative Regulation Of RNA Biosynthetic Process Cellular Response To Gamma Radiation Centrosome Cellular Response To Camptothecin Cellular Response To Alkaloid Negative Regulation Of RNA Metabolic Process Regulation Of Primary Metabolic Process Four-way Junction Helicase Activity Response To Glycoside Replication Fork Processing Telomere Maintenance Via Semi-conservative Replication Negative Regulation Of Striated Muscle Cell Differentiation Pronucleus Positive Regulation Of Metabolic Process DNA Geometric Change Bubble DNA Binding Positive Regulation Of Macromolecule Metabolic Process DNA Damage Response Enzyme Binding	DNA Damage Response DNA Repair DNA Metabolic Process Chromosome Organization Cellular Response To Stress Double-strand Break Repair Macromolecule Metabolic Process Chromosome, Telomeric Region PML Body Nucleic Acid Metabolic Process Nucleoplasm Response To Stress Telomere Maintenance Regulation Of DNA Metabolic Process DNA Recombination Telomere Organization Regulation Of Cell Cycle Chromosome Nucleobase-containing Compound Metabolic Process Negative Regulation Of Cell Cycle Nucleus Negative Regulation Of Cell Cycle Process Positive Regulation Of DNA Metabolic Process Response To Ionizing Radiation Regulation Of Cell Cycle Process Replication Fork Signal Transduction In Response To DNA Damage Response To Radiation Regulation Of DNA Replication Interstrand Cross-link Repair Nuclear Body Chromosome Organization Involved In Meiotic Cell Cycle DNA Damage Checkpoint Signaling Organelle Organization Nuclear Chromosome T-circle Formation Cellular Response To Ionizing Radiation Negative Regulation Of DNA Metabolic Process Double-strand Break Repair Via Homologous Recombination Replicative Senescence Regulation Of DNA Recombination Recombinational Repair Replication Fork Processing DNA Replication Negative Regulation Of Cell Cycle Phase Transition Regulation Of Cell Cycle Phase Transition Regulation Of DNA Repair Regulation Of Chromosome Organization Condensed Nuclear Chromosome Chromatin Binding
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