ATRX

Description		ATRX chromatin remodeler
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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
	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
	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
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		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		Platelet count ( 32888494) Plateletcrit ( 32888494)
Novel Interacting Genes		1 novel interacting genes: ATP1A3
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
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?
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