RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))
1997-10-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
8q21.3
IMAGE
LEGEND
ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
AML1-MTG8,AML1T1,CBFA2T1,CDR,ETO,MTG8,ZMYND2
FUSION GENES
DNA/RNA
Transcription
from telomere to centromere; alternate slicing at the 5 end
-> MTG8A and MTG8B
Proteins
Protein Diagram
Description
577 or 604 amino acids ( MTG8A and MTG8B respectively), with a
different N-term; 3 proline rich domains (as in transcription factors), 2
of which being also serine and threonine rich (as phosphorylation sites)
and 2 Zn fingers (cys.cys/cys.cys and cys.cys/his.cys), a PEST region at
the C terminus (conferring rapid intracellular degradation)
Expression
mainly in the brain; not in hematopoietic cells (debated)
Localisation
nuclear (probable)
Function
putative transcription factor
Homology
99% identical to the murine homolog
Implicated in
Entity name
Disease
AML, M2 mostly
Prognosis
CR is obtained; median survival (1.5-2 yrs) is the range with
other AML or relatively better
Cytogenetics
additional anomalies are frequent: loss of Y or X chromosome,
del(7q)/-7, +8, del (9q);
complex t(8;21;Var) are known and have revealed that the crucial event lies
on der(8); in agrement with the fact that both genes are transcribed from
telomere to centromere
Hybrid gene
5 AML1 - 3 ETO
Fusion protein
N-term AML1 with the Runt domain fused to the nearly entire ETO
Oncogenesis
the fusion protein retain the ability to recognize the AML1
concensus binding site (--> negative dominant competitor with the normal
AML1) and to dimerize with the cbtb/CBTB subunit --> probable altered
transcriptional regulation of normal AML1 target genes
Other Information
Locus ID:
NCBI: 862
MIM: 133435
HGNC: 1535
Ensembl: ENSG00000079102
Variants:
dbSNP: 862
ClinVar: 862
TCGA: ENSG00000079102
COSMIC: RUNX1T1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38243303 | 2024 | CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. | 0 |
| 38243303 | 2024 | CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. | 0 |
| 37341821 | 2023 | RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1. | 0 |
| 37951201 | 2023 | Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1. | 0 |
| 37341821 | 2023 | RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1. | 0 |
| 37951201 | 2023 | Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1. | 0 |
| 35765876 | 2022 | Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1. | 2 |
| 35902872 | 2022 | RUNX1T1 function in cell fate. | 2 |
| 35963185 | 2022 | MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1. | 1 |
| 35765876 | 2022 | Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1. | 2 |
| 35902872 | 2022 | RUNX1T1 function in cell fate. | 2 |
| 35963185 | 2022 | MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1. | 1 |
| 33084222 | 2021 | Identification of RUNX1T1 as a potential epigenetic modifier in small-cell lung cancer. | 7 |
| 33217477 | 2021 | The RUNX1/RUNX1T1 network: translating insights into therapeutic options. | 11 |
| 33382982 | 2021 | Definition of a small core transcriptional circuit regulated by AML1-ETO. | 37 |
Citation
Jean-Loup Huret
RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))
Atlas Genet Cytogenet Oncol Haematol. 1997-10-01
Online version: http://atlasgeneticsoncology.org/gene/26/runx1t1
