BLM and ATRX

Data Source:
BioGRID (pull down, pull down)

		BLM	ATRX
Description		BLM RecQ like helicase	ATRX chromatin remodeler
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GO Annotations	Cellular Component	Nuclear Chromosome Chromosome, Telomeric Region Lateral Element Nucleus Nucleoplasm Replication Fork Chromosome Nucleolus Cytoplasm Cytosol Nuclear Matrix PML Body Protein-containing Complex	Nuclear Chromosome Condensed Chromosome, Centromeric Region Chromosome, Telomeric Region Heterochromatin Nucleus Nucleoplasm Pericentric Heterochromatin Nuclear Body PML Body Chromosome, Subtelomeric Region
	Molecular Function	Four-way Junction DNA Binding Y-form DNA Binding Bubble DNA Binding P53 Binding DNA Binding DNA Helicase Activity Single-stranded DNA Binding Helicase Activity Protein Binding ATP Binding DNA-dependent ATPase Activity Zinc Ion Binding Four-way Junction Helicase Activity ATPase Activity Annealing Helicase Activity Identical Protein Binding Protein Homodimerization Activity 3'-5' DNA Helicase Activity 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 Binding DNA Helicase Activity Chromatin Binding Protein Binding ATP Binding DNA Translocase Activity Methylated Histone Binding Histone Binding Metal Ion Binding Chromo Shadow Domain Binding
	Biological Process	Regulation Of Cyclin-dependent Protein Serine/threonine Kinase Activity Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Strand Renaturation DNA Replication DNA Unwinding Involved In DNA Replication DNA Repair DNA Recombination Cellular Response To DNA Damage Stimulus Mitotic G2 DNA Damage Checkpoint Response To X-ray Replication Fork Processing DNA Duplex Unwinding G-quadruplex DNA Unwinding Positive Regulation Of Transcription, DNA-templated Negative Regulation Of DNA Recombination Replication Fork Protection Protein Complex Oligomerization Protein Homooligomerization Negative Regulation Of Cell Division Telomeric D-loop Disassembly Cellular Response To Ionizing Radiation Cellular Response To Hydroxyurea Cellular Response To Camptothecin Regulation Of DNA-dependent DNA Replication T-circle Formation Regulation Of Signal Transduction By P53 Class Mediator	Meiotic Spindle Organization DNA Repair DNA Methylation Nucleosome Assembly DNA Replication-independent Nucleosome Assembly Chromatin Remodeling Regulation Of Transcription, DNA-templated Spermatogenesis Positive Regulation Of Nuclear Cell Cycle DNA Replication DNA Damage Response, Signal Transduction By P53 Class Mediator Forebrain Development Replication Fork Processing Positive Regulation Of Telomere Maintenance DNA Duplex Unwinding 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 Regulation Of Histone H3-K9 Trimethylation Negative Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter Positive Regulation Of Telomeric RNA Transcription From RNA Pol II Promoter Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Telomeric
Pathways		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	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
Drugs
Diseases		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 Defects in RecQ helicases, including: Bloom's syndrome; Werner's syndrome; Rothmund-Thomson syndrome	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) Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX) Non-syndromic X-linked mental retardation 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
GWAS		Coronary artery disease ( 32469254) Daytime sleep phenotypes ( 27126917)	Platelet count ( 32888494) Plateletcrit ( 32888494)
Interacting Genes		38 interacting genes: ATR ATRX BRIP1 CASP3 CHAF1A CHEK1 DNA2 EXO1 FANCD2 FBXW7 FEN1 JUN MCRS1 MIB1 MLH1 MX1 NEK11 PSMD3 RAD51 RAD51D RNF8 RPA1 SMC1A SPIDR SUMO1 SUMO2 SUMO3 SYN1 TERF1 TERF2 TOP3A TOPBP1 TP53 TP53BP1 TRIM49 UBE2I UPF2 WRN	27 interacting genes: ATN1 AURKA BLM CALM1 CCSER2 CEP126 CREBBP DAXX EZH2 H3-3A H3C14 HDAC1 HDAC4 LUC7L2 MDM2 NEK1 NSD1 PTN PTPN4 RAD51 RASSF1 SUMO2 SVIL TP53 WRN ZBED1 ZNF512B
Entrez ID		641	546
HPRD ID		05211	02069
Ensembl ID		ENSG00000197299	ENSG00000085224
Uniprot IDs		B7ZKN7 H0YNU5 P54132	A4LAA3 B4DLW1 P46100
PDB IDs		2KV2 2MH9 2RRD 3WE2 3WE3 4CDG 4CGZ 4O3M 5LUP 5MK5 5U6K	2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O
Enriched GO Terms of Interacting Partners?
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