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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ATRX, chromatin remodeler | MIM:300032 | Ensembl:ENSG00000085224 | HGNC:HGNC:886 | PA25179 | Xq21.1 |
GO terms in ATRX
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0003677 | DNA binding |
| MF | TAS | GO:0003678 | DNA helicase activity |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | TAS | GO:0004386 | helicase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IDA | GO:0015616 | DNA translocase activity |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IDA | GO:0042393 | histone binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0070087 | chromo shadow domain binding |
| BP | IEA | GO:0000212 | meiotic spindle organization |
| BP | IEA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006306 | DNA methylation |
| BP | TAS | GO:0006310 | DNA recombination |
| BP | IDA | GO:0006334 | nucleosome assembly |
| BP | IMP | GO:0006336 | DNA replication-independent nucleosome assembly |
| BP | IDA | GO:0006338 | chromatin remodeling |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | TAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IEA | GO:0007283 | spermatogenesis |
| BP | ISS | GO:0010571 | positive regulation of nuclear cell cycle DNA replication |
| BP | ISS | GO:0030330 | DNA damage response, signal transduction by p53 class mediator |
| BP | IEA | GO:0030900 | forebrain development |
| BP | ISS | GO:0031297 | replication fork processing |
| BP | ISS | GO:0032206 | positive regulation of telomere maintenance |
| BP | IEA | GO:0032508 | DNA duplex unwinding |
| BP | IEA | GO:0035128 | post-embryonic forelimb morphogenesis |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0060009 | Sertoli cell development |
| BP | IEA | GO:0070192 | chromosome organization involved in meiotic cell cycle |
| BP | ISS | GO:0070198 | protein localization to chromosome, telomeric region |
| BP | IEA | GO:0072520 | seminiferous tubule development |
| BP | ISS | GO:0072711 | cellular response to hydroxyurea |
| BP | IMP | GO:1900112 | regulation of histone H3-K9 trimethylation |
| BP | ISS | GO:1901581 | negative regulation of telomeric RNA transcription from RNA pol II promoter |
| BP | IMP | GO:1901582 | positive regulation of telomeric RNA transcription from RNA pol II promoter |
| BP | IMP | GO:1904908 | negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric |
| CC | IEA | GO:0000780 | condensed nuclear chromosome, centromeric region |
| CC | ISS | GO:0000784 | nuclear chromosome, telomeric region |
| CC | ISS | GO:0000784 | nuclear chromosome, telomeric region |
| CC | TAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005720 | nuclear heterochromatin |
| CC | ISS | GO:0005721 | pericentric heterochromatin |
| CC | IDA | GO:0016604 | nuclear body |
| CC | ISS | GO:0016605 | PML body |
| CC | IEA | GO:0031618 | nuclear pericentric heterochromatin |
| CC | ISS | GO:0031933 | telomeric heterochromatin |
| CC | IDA | GO:1990707 | nuclear subtelomeric heterochromatin |
Gene expression in normal tissue: ATRX
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ATRX
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP3651 | Pathways Affected in Adenoid Cystic Carcinoma |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD221 | Tamoxifen | 2 |
| iGMDRD705 | Nakiterpiosin | 1 |
| iGMDRD77 | Itraconazole | 2 |
| iGMDRD213 | SMR000068650 | 1 |
| iGMDRD202 | Curcumin | 5 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD552 | AZD-1775 | 3 |
| iGMDRD264 | Bryostatin 1 | 1 |
| iGMDRD367 | Ro 28-1675 | 2 |
| iGMDRD871 | BRD6368 | 5 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD523 | Cyanoquinoline, 11 | 2 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD584 | VER 155008 | 2 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD226 | ML006 | 1 |
| iGMDRD44 | Temozolomide | 1 |
| iGMDRD52 | Rotenone | 1 |
| iGMDRD260 | FQI-2 | 1 |
| iGMDRD29 | Lomustine | 1 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD23 | Gossypol | 4 |
| iGMDRD524 | ISX-9 | 3 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD399 | Selumetinib | 4 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD780 | PP-30 | 8 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD37 | Procarbazine | 1 |
| iGMDRD779 | PRL-3 Inhibitor I | 1 |
| iGMDRD670 | ML 210 | 4 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD781 | Sirolimus | 4 |
| iGMDRD126 | Tipifarnib | 4 |
| iGMDRD76 | Simvastatin | 3 |
| iGMDRD151 | CHM-1 | 3 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD443 | Linifanib | 1 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD481 | Dactolisib | 2 |
| iGMDRD267 | Oligomycin A | 2 |
| iGMDRD271 | Brefeldin A | 4 |
| iGMDRD300 | Tozasertib | 4 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD424 | Tamatinib | 4 |
| iGMDRD307 | Manumycin A | 2 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD211 | (1S,3R)-RSL3 | 1 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 6 |
| iGMDRD499 | PDMP | 2 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD885 | Compound 110 | 2 |
| iGMDRD318 | PAC-1 | 5 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD138 | PX 12 | 2 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD533 | HSCI1_000270 | 1 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD606 | COT Inhibitor-2 | 1 |
| iGMDRD887 | Compound 23 citrate | 1 |
| iGMDRD577 | BIX01294 | 7 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD218 | XAV 939 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 4 |
| iGMDRD281 | Vinorelbine base | 1 |
| iGMDRD696 | NG25 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ATRX
CLASSFICATION
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