| Gene Symbol |
RUNX1
|
| Entrez Gene |
861
|
| Alt Symbol |
AML1, AML1-EVI-1, AMLCR1, CBFA2, EVI-1, PEBP2aB
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
runt-related transcription factor 1
|
| Other Description |
AML1-EVI-1 fusion protein|CBF-alpha-2|PEA2-alpha B|PEBP2-alpha B|SL3-3 enhancer factor 1 alpha B subunit|SL3/AKV core-binding factor alpha B subunit|acute myeloid leukemia 1 protein|core-binding factor, runt domain, alpha subunit 2|oncogene AML-1|polyomavirus enhancer-binding protein 2 alpha B subunit
|
| Swissprots |
O60473 Q16347 O76089 Q16285 Q13757 Q01196 A8MV94 Q15341 Q15343 Q13755 B2RMS4 Q13756 Q16286 Q16346 O76047 Q13759 O60472 D3DSG1 Q13081 Q13758 Q92479 Q16284
|
| Accessions |
AAC05246 AAC05247 AGY36885 CAA13070 EAX09769 EAX09770 Q01196 AA878154 AK226159 AK310587 AK310646 AL581043 AV761975 BC050363 BC110828 AAI10829 BC136380 AAI36381 BC136381 AAI36382 BC144053 AAI44054 BM149149 BX475024 CA503244 CD638998 D10570 BAA01426 D43967 BAA07902 D43968 BAA07903 D43969 BAA07904 D89788 BAA14020 D89789 BAA14021 D89790 BAA14022 KF041488 KF041489 L34598 AAA51720 S60998 S76345 AAB33729 S76346 AAB33730 S76350 AAB33731 U19601 AAB51691 X79549 CAA56092 X90976 CAA62464 X90977 X90979 CAA62466 X90980 CAA62467 X90981 CAA62468 XM_005261068 XP_005261125 XM_005261069 XP_005261126 XM_011529766 XP_011528068 XM_011529767 XP_011528069 XM_011529768 XP_011528070 XM_011529769 XP_011528071 XM_011529770 XP_011528072 XR_937576 NM_001001890 NP_001001890 NM_001122607 NP_001116079 NM_001754 NP_001745
|
| Function |
CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B- dependent transcriptional activation. Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down- regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). {ECO:0000269|PubMed:10207087, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:14970218, ECO:0000269|PubMed:17377532, ECO:0000269|PubMed:17431401}.
|
| Subcellular Location |
Nucleus.
|
| Tissue Specificity |
Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.
|
| Top Pathways |
Chronic myeloid leukemia, Acute myeloid leukemia, Transcriptional misregulation in cancer
|