RUNX1
Summary: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| runt related transcription factor 1 | MIM:151385 | Ensembl:ENSG00000159216 | HGNC:HGNC:10471 | PA34884 | 21q22.12 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in RUNX1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0016513 | core-binding factor complex |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | ISS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0001959 | regulation of cytokine-mediated signaling pathway |
| BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IBA | GO:0030097 | hemopoiesis |
| BP | IDA | GO:0030097 | hemopoiesis |
| BP | TAS | GO:0030111 | regulation of Wnt signaling pathway |
| BP | IBA | GO:0030182 | neuron differentiation |
| BP | IMP | GO:0030854 | positive regulation of granulocyte differentiation |
| BP | IMP | GO:0032743 | positive regulation of interleukin-2 production |
| BP | TAS | GO:0033146 | regulation of intracellular estrogen receptor signaling pathway |
| BP | ISS | GO:0043371 | negative regulation of CD4-positive, alpha-beta T cell differentiation |
| BP | ISS | GO:0043378 | positive regulation of CD8-positive, alpha-beta T cell differentiation |
| BP | TAS | GO:0045589 | regulation of regulatory T cell differentiation |
| BP | IBA | GO:0045595 | regulation of cell differentiation |
| BP | TAS | GO:0045616 | regulation of keratinocyte differentiation |
| BP | TAS | GO:0045637 | regulation of myeloid cell differentiation |
| BP | TAS | GO:0045652 | regulation of megakaryocyte differentiation |
| BP | ISS | GO:0045766 | positive regulation of angiogenesis |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0048935 | peripheral nervous system neuron development |
| BP | TAS | GO:0050855 | regulation of B cell receptor signaling pathway |
| BP | TAS | GO:0071425 | hematopoietic stem cell proliferation |
| BP | TAS | GO:1902036 | regulation of hematopoietic stem cell differentiation |
| BP | TAS | GO:2000810 | regulation of bicellular tight junction assembly |
| MF | IDA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | IMP | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IMP | GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
Gene expression in normal tissue: RUNX1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RUNX1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-157118 | Signaling by NOTCH |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1912408 | Pre-NOTCH Transcription and Translation |
| reactome | R-HSA-1912422 | Pre-NOTCH Expression and Processing |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-425366 | Transport of bile salts and organic acids, metal ions and amine compounds |
| reactome | R-HSA-425407 | SLC-mediated transmembrane transport |
| reactome | R-HSA-549127 | Organic cation transport |
| reactome | R-HSA-549132 | Organic cation/anion/zwitterion transport |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8877330 | RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) |
| reactome | R-HSA-8878159 | Transcriptional regulation by RUNX3 |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8931987 | RUNX1 regulates estrogen receptor mediated transcription |
| reactome | R-HSA-8934593 | Regulation of RUNX1 Expression and Activity |
| reactome | R-HSA-8934593 | Regulation of RUNX1 Expression and Activity |
| reactome | R-HSA-8935964 | RUNX1 regulates expression of components of tight junctions |
| reactome | R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
| reactome | R-HSA-8939211 | ESR-mediated signaling |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs |
| reactome | R-HSA-8939242 | RUNX1 regulates transcription of genes involved in differentiation of keratinocytes |
| reactome | R-HSA-8939242 | RUNX1 regulates transcription of genes involved in differentiation of keratinocytes |
| reactome | R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
| reactome | R-HSA-8939245 | RUNX1 regulates transcription of genes involved in BCR signaling |
| reactome | R-HSA-8939246 | RUNX1 regulates transcription of genes involved in differentiation of myeloid cells |
| reactome | R-HSA-8939247 | RUNX1 regulates transcription of genes involved in interleukin signaling |
| reactome | R-HSA-8939256 | RUNX1 regulates transcription of genes involved in WNT signaling |
| reactome | R-HSA-8941333 | RUNX2 regulates genes involved in differentiation of myeloid cells |
| reactome | R-HSA-8951936 | RUNX3 regulates p14-ARF |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
| wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
| wikipathways | WP3300 | Dual hijack model of Vif in HIV infection |
| wikipathways | WP4107 | Transcriptional regulation by RUNX3 |
| kegg | hsa04530 | Tight junction - Homo sapiens (human) |
| kegg | hsa04659 | Th17 cell differentiation - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05221 | Acute myeloid leukemia - Homo sapiens (human) |
| pid | deltanp63pathway | Validated transcriptional targets of deltaNp63 isoforms |
| pid | smad2_3nuclearpathway | Regulation of nuclear SMAD2/3 signaling |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 1 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD198 | AC1LE7KD | 1 |
| iGMDRD297 | Austocystin D | 1 |
| iGMDRD378 | ZM-447439 | 1 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD50 | Cytarabine | 1 |
| iGMDRD483 | SCH-529074 | 2 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD150 | RITA | 1 |
| iGMDRD3 | PD-173074 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD267 | Oligomycin A | 1 |
| iGMDRD284 | Palbociclib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RUNX1
CLASSFICATION
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