ATRX and NSD1

Number of citations of the paper that reports this interaction (PubMedID 24412544)
0

Data Source:
BioGRID (enzymatic study)

		ATRX	NSD1
Description		ATRX chromatin remodeler	nuclear receptor binding SET domain protein 1
Image
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	Chromatin Nucleus Nucleoplasm Chromosome
	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	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Binding Transcription Coregulator Activity Transcription Corepressor Activity Protein Binding Methyltransferase Activity Zinc Ion Binding Transferase Activity Nuclear Receptor Binding Nuclear Estrogen Receptor Binding Histone Methyltransferase Activity Histone H4K20 Methyltransferase Activity Nuclear Retinoic Acid Receptor Binding Metal Ion Binding Nuclear Retinoid X Receptor Binding Nuclear Thyroid Hormone Receptor Binding Histone H3K36 Methyltransferase Activity Nuclear Androgen Receptor Binding Histone H3 Methyltransferase Activity Histone H3K36 Dimethyltransferase 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	Negative Regulation Of Transcription By RNA Polymerase II Chromatin Organization Chromatin Remodeling Regulation Of DNA-templated Transcription Methylation Regulation Of Peptidyl-serine Phosphorylation Positive Regulation Of DNA-templated Transcription Regulation Of RNA Polymerase II Regulatory Region Sequence-specific DNA Binding
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	PKMTs methylate histone lysines
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	Sotos syndrome and Weaver syndrome Beckwith-Wiedemann syndrome
GWAS		Platelet count ( 32888494) Plateletcrit ( 32888494)	Activated partial thromboplastin time ( 22703881) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Circulating fibroblast growth factor 23 levels ( 30217807) Height ( 25282103 31562340) Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172) Lymphocyte count ( 32888494) Narrowest width of the femoral neck ( 30888730) Neutrophil count ( 32888494) Nonsyndromic cleft lip ( 31609978) Urate levels ( 31578528) Urate levels in lean individuals ( 25811787) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for body mass index ( 28448500 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 26426971 34021172) Waist-to-hip ratio adjusted for BMI (age <50) ( 26426971) Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) ( 26426971)
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	37 interacting genes: AGR2 AR ATRX CCDC125 CYSRT1 ESR1 ESRRA H1-2 H1-3 H1-5 H3-4 H3C1 H4C1 H4C16 HNF4G KRTAP6-2 MDFI NR2E1 NR2F1 NR2F2 NR2F6 NR5A2 NR6A1 NTRK3 POLR2A PPARG RARA RORA RORB RXRA SNORD3A THRA THRB TNFRSF21 USP7 VDR ZNF496
Entrez ID		546	64324
HPRD ID		02069	09455
Ensembl ID		ENSG00000085224	ENSG00000165671
Uniprot IDs		A4LAA3 B4DLW1 P46100	A0A8I5QJP2 Q96L73 Q96MN8
PDB IDs		2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O	3OOI 6KQP 6KQQ 8C5L
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	Nuclear Receptor Activity Intracellular Receptor Signaling Pathway Sequence-specific DNA Binding DNA Binding DNA-binding Transcription Factor Activity Hormone-mediated Signaling Pathway Nuclear Receptor-mediated Signaling Pathway RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Negative Regulation Of DNA-templated Transcription Negative Regulation Of Transcription By RNA Polymerase II Negative Regulation Of RNA Biosynthetic Process Zinc Ion Binding Regulation Of Gene Expression Nuclear Steroid Receptor Activity Negative Regulation Of RNA Metabolic Process Regulation Of Macromolecule Biosynthetic Process Retinoic Acid Receptor Signaling Pathway MRNA Transcription By RNA Polymerase II Regulation Of DNA-templated Transcription Regulation Of RNA Metabolic Process Regulation Of RNA Biosynthetic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Negative Regulation Of Macromolecule Biosynthetic Process MRNA Transcription Intracellular Signal Transduction Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Biosynthetic Process Positive Regulation Of Transcription By RNA Polymerase II DNA-binding Transcription Factor Activity, RNA Polymerase II-specific Negative Regulation Of Metabolic Process Nucleosome Assembly Nucleoplasm Negative Regulation Of Macromolecule Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Macromolecule Metabolic Process Protein-DNA Complex Assembly Positive Regulation Of Biosynthetic Process Nucleosome Organization Regulation Of Metabolic Process Structural Constituent Of Chromatin Transcription By RNA Polymerase II Chromatin DNA Binding Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Sequence-specific Double-stranded DNA Binding Estrogen Response Element Binding Positive Regulation Of RNA Metabolic Process
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