ASXL1
Summary: This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ASXL transcriptional regulator 1 | MIM:612990 | Ensembl:ENSG00000171456 | HGNC:HGNC:18318 | PA25078 | 20q11.21 |
GO terms in ASXL1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0000790 | nuclear chromatin |
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0035517 | PR-DUB complex |
| CC | IDA | GO:0035517 | PR-DUB complex |
| BP | IEA | GO:0000902 | cell morphogenesis |
| BP | IEA | GO:0003007 | heart morphogenesis |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IBA | GO:0009887 | animal organ morphogenesis |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | IEA | GO:0030097 | hemopoiesis |
| BP | ISS | GO:0032526 | response to retinoic acid |
| BP | ISS | GO:0035359 | negative regulation of peroxisome proliferator activated receptor signaling pathway |
| BP | IDA | GO:0035522 | monoubiquitinated histone H2A deubiquitination |
| BP | ISS | GO:0045599 | negative regulation of fat cell differentiation |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0048386 | positive regulation of retinoic acid receptor signaling pathway |
| BP | IEA | GO:0048538 | thymus development |
| BP | IEA | GO:0048539 | bone marrow development |
| BP | IEA | GO:0048872 | homeostasis of number of cells |
| BP | IEA | GO:0060430 | lung saccule development |
| MF | IEA | GO:0003677 | DNA binding |
| MF | IBA | GO:0003682 | chromatin binding |
| MF | ISS | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0042974 | retinoic acid receptor binding |
| MF | IBA | GO:0042975 | peroxisome proliferator activated receptor binding |
| MF | ISS | GO:0042975 | peroxisome proliferator activated receptor binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: ASXL1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASXL1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689603 | UCH proteinases |
| reactome | R-HSA-597592 | Post-translational protein modification |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD541 | SNX-2112 (PF-04928473) | 1 |
| iGMDRD604 | 4449-51-8 | 1 |
| iGMDRD461 | VX-11e | 1 |
| iGMDRD73 | NSC-207895 | 1 |
| iGMDRD374 | Zibotentan (ZD4054) | 2 |
| iGMDRD463 | ZSTK 474 | 1 |
| iGMDRD319 | SB-715992 | 1 |
| iGMDRD160 | Cis-Platin | 1 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD366 | PI-103 | 1 |
| iGMDRD662 | JQ-1 | 1 |
| iGMDRD935 | JQ12 | 1 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD264 | Bryostatin 1 | 2 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD293 | Bleomycin | 1 |
| iGMDRD1016 | THZ-2-49 | 1 |
| iGMDRD785 | XMD15-27 | 1 |
| iGMDRD402 | AKT Inhibitor VIII | 1 |
| iGMDRD558 | CAY10603 | 1 |
| iGMDRD434 | BMS-536924 | 1 |
| iGMDRD655 | SCHEMBL618594 | 1 |
| iGMDRD660 | GSK-1070916 | 1 |
| iGMDRD498 | GW441756X | 1 |
| iGMDRD326 | Belinostat (PXD101) | 1 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD21 | Fluorouracil | 1 |
| iGMDRD163 | all trans Retinoic Acid | 1 |
| iGMDRD639 | YK 4-279 | 1 |
| iGMDRD378 | ZM-447439 | 1 |
| iGMDRD348 | BMS-345541 | 1 |
| iGMDRD198 | AC1LE7KD | 1 |
| iGMDRD313 | Axitinib | 2 |
| iGMDRD126 | Tipifarnib | 1 |
| iGMDRD937 | KIN001-236 | 1 |
| iGMDRD678 | Tubastatin A | 1 |
| iGMDRD63 | Camptothecin | 1 |
| iGMDRD283 | Bosutinib | 2 |
| iGMDRD403 | BAY 61-3606 | 1 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD312 | Pelitinib | 1 |
| iGMDRD332 | A-770041 | 1 |
| iGMDRD692 | SB590885 | 2 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD364 | CP-724714 | 1 |
| iGMDRD320 | PIK-93 | 1 |
| iGMDRD509 | NVP-BHG712 | 1 |
| iGMDRD593 | CX-5461 | 2 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD44 | Temozolomide | 1 |
| iGMDRD318 | PAC-1 | 1 |
| iGMDRD478 | ABT-888 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASXL1
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