ATRX and NSD1

Data Source:
BioGRID (enzymatic study)

		ATRX	NSD1
Description		ATRX chromatin remodeler	nuclear receptor binding SET domain protein 1
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GO Annotations	Cellular Component	Nuclear Chromosome Condensed Chromosome, Centromeric Region Chromosome, Telomeric Region Heterochromatin Nucleus Nucleoplasm Pericentric Heterochromatin Nuclear Body PML Body Chromosome, Subtelomeric Region	Chromatin Nucleus Nucleoplasm
	Molecular Function	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	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding Chromatin Binding Transcription Coregulator Activity Transcription Corepressor Activity Protein Binding Zinc Ion Binding Estrogen Receptor Binding Histone Methyltransferase Activity (H4-K20 Specific) Retinoic Acid Receptor Binding Retinoid X Receptor Binding Thyroid Hormone Receptor Binding Histone Methyltransferase Activity (H3-K36 Specific) Androgen Receptor Binding
	Biological Process	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	Negative Regulation Of Transcription By RNA Polymerase II Regulation Of Histone H3-K36 Methylation Regulation Of Transcription, DNA-templated Histone H3-K36 Methylation Histone Methylation Regulation Of Peptidyl-serine Phosphorylation Histone H4-K20 Methylation Positive Regulation Of Transcription, DNA-templated 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		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	Beckwith-Wiedemann syndrome Sotos syndrome and Weaver 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) Lymphocyte counts ( 32888494) Monocyte 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) Waist-to-hip ratio adjusted for BMI ( 26426971) 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		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	36 interacting genes: AGR2 AR ATRX CCDC125 CYSRT1 ESR1 ESRRA H1-2 H1-3 H1-5 H3-4 H3C1 H4-16 H4C1 HNF4G KRTAP6-2 MDFI NR2E1 NR2F1 NR2F2 NR2F6 NR5A2 NR6A1 NTRK3 POLR2A PPARG RARA RORA RORB RXRA SNORD3A THRA THRB TNFRSF21 VDR ZNF496
Entrez ID		546	64324
HPRD ID		02069	09455
Ensembl ID		ENSG00000085224	ENSG00000165671
Uniprot IDs		A4LAA3 B4DLW1 P46100	Q96L73 Q96MN8
PDB IDs		2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O	3OOI 6KQP 6KQQ
Enriched GO Terms of Interacting Partners?
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