ATRX

Description		ATRX chromatin remodeler
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
	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
	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
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
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
GWAS		Platelet count ( 32888494) Plateletcrit ( 32888494)
Novel Interacting Genes		1 novel interacting genes: ATP1A3
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
Entrez ID		546
HPRD ID		02069
Ensembl ID		ENSG00000085224
Uniprot IDs		A4LAA3 B4DLW1 P46100
PDB IDs		2JM1 2LBM 2LD1 3QL9 3QLA 3QLC 3QLN 4W5A 5GRQ 5Y18 5Y6O 6G0O
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
Tagcloud ?