ATRX


Summary: The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
ATRX, chromatin remodelerMIM:300032Ensembl:ENSG00000085224HGNC:HGNC:886PA25179Xq21.1

GO terms in ATRX


Term TypeEvidence TypeGO Term IDGO Des.
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIEAGO:0003677DNA binding
MFTASGO:0003678DNA helicase activity
MFIDAGO:0003682chromatin binding
MFTASGO:0004386helicase activity
MFIPIGO:0005515protein binding
MFIEAGO:0005524ATP binding
MFIDAGO:0015616DNA translocase activity
MFIDAGO:0035064methylated histone binding
MFIDAGO:0042393histone binding
MFIEAGO:0046872metal ion binding
MFIPIGO:0070087chromo shadow domain binding
BPIEAGO:0000212meiotic spindle organization
BPIEAGO:0006281DNA repair
BPTASGO:0006306DNA methylation
BPTASGO:0006310DNA recombination
BPIDAGO:0006334nucleosome assembly
BPIMPGO:0006336DNA replication-independent nucleosome assembly
BPIDAGO:0006338chromatin remodeling
BPIEAGO:0006351transcription, DNA-templated
BPTASGO:0006355regulation of transcription, DNA-templated
BPIEAGO:0007283spermatogenesis
BPISSGO:0010571positive regulation of nuclear cell cycle DNA replication
BPISSGO:0030330DNA damage response, signal transduction by p53 class mediator
BPIEAGO:0030900forebrain development
BPISSGO:0031297replication fork processing
BPISSGO:0032206positive regulation of telomere maintenance
BPIEAGO:0032508DNA duplex unwinding
BPIEAGO:0035128post-embryonic forelimb morphogenesis
BPIEAGO:0035264multicellular organism growth
BPIMPGO:0045944positive regulation of transcription by RNA polymerase II
BPIEAGO:0060009Sertoli cell development
BPIEAGO:0070192chromosome organization involved in meiotic cell cycle
BPISSGO:0070198protein localization to chromosome, telomeric region
BPIEAGO:0072520seminiferous tubule development
BPISSGO:0072711cellular response to hydroxyurea
BPIMPGO:1900112regulation of histone H3-K9 trimethylation
BPISSGO:1901581negative regulation of telomeric RNA transcription from RNA pol II promoter
BPIMPGO:1901582positive regulation of telomeric RNA transcription from RNA pol II promoter
BPIMPGO:1904908negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric
CCIEAGO:0000780condensed nuclear chromosome, centromeric region
CCISSGO:0000784nuclear chromosome, telomeric region
CCISSGO:0000784nuclear chromosome, telomeric region
CCTASGO:0005634nucleus
CCIDAGO:0005654nucleoplasm
CCTASGO:0005720nuclear heterochromatin
CCISSGO:0005721pericentric heterochromatin
CCIDAGO:0016604nuclear body
CCISSGO:0016605PML body
CCIEAGO:0031618nuclear pericentric heterochromatin
CCISSGO:0031933telomeric heterochromatin
CCIDAGO:1990707nuclear subtelomeric heterochromatin

Gene expression in normal tissue: ATRX

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ATRX


DatabasePathway IDPathway Des.
wikipathwaysWP2002miR-targeted genes in epithelium - TarBase
wikipathwaysWP2004miR-targeted genes in lymphocytes - TarBase
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
wikipathwaysWP2006miR-targeted genes in squamous cell - TarBase
wikipathwaysWP3651Pathways Affected in Adenoid Cystic Carcinoma

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD221Tamoxifen2
iGMDRD705Nakiterpiosin1
iGMDRD77Itraconazole2
iGMDRD213SMR0000686501
iGMDRD202Curcumin5
iGMDRD121GMX17782
iGMDRD552AZD-17753
iGMDRD264Bryostatin 11
iGMDRD367Ro 28-16752
iGMDRD871BRD63685
iGMDRD532Olaparib2
iGMDRD523Cyanoquinoline, 112
iGMDRD405PIK-753
iGMDRD584VER 1550082
iGMDRD123Isoevodiamine1
iGMDRD314Tanespimycin2
iGMDRD226ML0061
iGMDRD44Temozolomide1
iGMDRD52Rotenone1
iGMDRD260FQI-21
iGMDRD29Lomustine1
iGMDRD64Parbendazole2
iGMDRD23Gossypol4
iGMDRD524ISX-93
iGMDRD188Piperlongumine3
iGMDRD399Selumetinib4
iGMDRD506Fedratinib2
iGMDRD888Compound 443
iGMDRD780PP-308
iGMDRD427ABT7372
iGMDRD37Procarbazine1
iGMDRD779PRL-3 Inhibitor I1
iGMDRD670ML 2104
iGMDRD546BMS-7548071
iGMDRD781Sirolimus4
iGMDRD126Tipifarnib4
iGMDRD76Simvastatin3
iGMDRD151CHM-13
iGMDRD889Compound 7d-cis2
iGMDRD443Linifanib1
iGMDRD466Chaetocin1
iGMDRD679Bistramide A3
iGMDRD61Kinetin riboside4
iGMDRD481Dactolisib2
iGMDRD267Oligomycin A2
iGMDRD271Brefeldin A4
iGMDRD300Tozasertib4
iGMDRD505Pevonedistat3
iGMDRD82Quiflapon3
iGMDRD872BRD71373
iGMDRD424Tamatinib4
iGMDRD307Manumycin A2
iGMDRD512nutlin 33
iGMDRD211(1S,3R)-RSL31
iGMDRD132(-)-gallocatechin-3-O-gallate6
iGMDRD499PDMP2
iGMDRD57Chloropentafluorobenzene2
iGMDRD885Compound 1102
iGMDRD318PAC-15
iGMDRD870BRD636102
iGMDRD138PX 122
iGMDRD255SB2250022
iGMDRD533HSCI1_0002701
iGMDRD60Quinoclamine3
iGMDRD606COT Inhibitor-21
iGMDRD887Compound 23 citrate1
iGMDRD577BIX012947
iGMDRD144NSC953973
iGMDRD1008SR-II-138A2
iGMDRD579PF7502
iGMDRD772BRD47702
iGMDRD280CYTOCHALASIN B1
iGMDRD218XAV 9391
iGMDRD634SCHEMBL26080414
iGMDRD281Vinorelbine base1
iGMDRD696NG251

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ATRX

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