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功能
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 MYST4-dependent transcriptional activation.
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组织特异性
Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.
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疾病相关
Note=A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1.
Note=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM.
Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with EAP or MECOM.
Note=A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of TEL to the alternate 5'-exon of AML-1H.
Note=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that forms a MACROD1-RUNX1 fusion protein.
Defects in RUNX1 are the cause of familial platelet disorder with associated myeloid malignancy (FPDMM) [MIM:601399]. FPDMM is an autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia.
Note=A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein.
Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion inv(21)(q21;q22) with USP16.
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序列相似性
Contains 1 Runt domain.
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结构域
A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.
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翻译后修饰
Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with MYST3.
Methylated.
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细胞定位
Nucleus.
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Information by UniProt
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数据库链接
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别名
- Acute myeloid leukemia 1 antibody
- Acute myeloid leukemia 1 protein antibody
- alpha subunit core binding factor antibody
- AML 1 antibody
- AML1 antibody
- AML1 EVI 1 antibody
- AML1 EVI 1 fusion protein antibody
- Aml1 oncogene antibody
- AMLCR 1 antibody
- AMLCR1 antibody
- CBF alpha 2 antibody
- CBF-alpha-2 antibody
- CBFA 2 antibody
- CBFA2 antibody
- Core binding factor alpha 2 subunit antibody
- Core binding factor runt domain alpha subunit 2 antibody
- Core-binding factor subunit alpha-2 antibody
- EVI 1 antibody
- EVI1 antibody
- HGNC antibody
- Oncogene AML 1 antibody
- Oncogene AML-1 antibody
- OTTHUMP00000108696 antibody
- OTTHUMP00000108697 antibody
- OTTHUMP00000108699 antibody
- OTTHUMP00000108700 antibody
- OTTHUMP00000108702 antibody
- PEA2 alpha B antibody
- PEA2-alpha B antibody
- PEBP2 alpha B antibody
- PEBP2-alpha B antibody
- PEBP2A2 antibody
- PEBP2aB antibody
- Polyomavirus enhancer binding protein 2 alpha B subunit antibody
- Polyomavirus enhancer-binding protein 2 alpha B subunit antibody
- Run1 antibody
- Runt related transcription factor 1 antibody
- Runt-related transcription factor 1 antibody
- RUNX 1 antibody
- Runx1 antibody
- RUNX1_HUMAN antibody
- SL3 3 enhancer factor 1 alpha B subunit antibody
- SL3-3 enhancer factor 1 alpha B subunit antibody
- SL3/AKV core binding factor alpha B subunit antibody
- SL3/AKV core-binding factor alpha B subunit antibody
see all