RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related))

1997-10-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
RUNX1T1
LOCATION
8q21.3
IMAGE
Atlas Image
LEGEND
ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
862
ALIAS
AML1-MTG8,AML1T1,CBFA2T1,CDR,ETO,MTG8,ZMYND2
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

from telomere to centromere; alternate slicing at the 5 end -> MTG8A and MTG8B

Proteins

Atlas Image
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
t(8;21)(q24;q22)/AML. --> AML1 - RUNX1T1
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

Gene IDTranscript IDUniprot
ENSG00000079102ENST00000265814Q06455
ENSG00000079102ENST00000360348Q06455
ENSG00000079102ENST00000360348W8FW32
ENSG00000079102ENST00000396218Q06455
ENSG00000079102ENST00000422361Q06455
ENSG00000079102ENST00000422361W8FW32
ENSG00000079102ENST00000436581A0A0A0MSU1
ENSG00000079102ENST00000517792E5RH30
ENSG00000079102ENST00000517919E7EQW7
ENSG00000079102ENST00000518317E5RJE7
ENSG00000079102ENST00000518361H0YC43
ENSG00000079102ENST00000518449E7EV92
ENSG00000079102ENST00000518823E5RI38
ENSG00000079102ENST00000518832E5RH72
ENSG00000079102ENST00000518844Q06455
ENSG00000079102ENST00000518954E7EX23
ENSG00000079102ENST00000518992E7ETA8
ENSG00000079102ENST00000519061E5RFQ3
ENSG00000079102ENST00000519422E7EQJ1
ENSG00000079102ENST00000519577E7EQJ1
ENSG00000079102ENST00000519847E7EWJ9
ENSG00000079102ENST00000520428E7EQ59
ENSG00000079102ENST00000520556E5RK76
ENSG00000079102ENST00000520583A0A1B0GX92
ENSG00000079102ENST00000520724Q06455
ENSG00000079102ENST00000520974E7ERJ9
ENSG00000079102ENST00000520978H0YBA6
ENSG00000079102ENST00000521054E5RG85
ENSG00000079102ENST00000521319E5RJB3
ENSG00000079102ENST00000521375E7EQI9
ENSG00000079102ENST00000521553E5RHJ8
ENSG00000079102ENST00000521733E5RJ32
ENSG00000079102ENST00000521751H0YC25
ENSG00000079102ENST00000521897E7EQJ1
ENSG00000079102ENST00000522467E7EQW3
ENSG00000079102ENST00000523168E7ESA9
ENSG00000079102ENST00000523629Q06455
ENSG00000079102ENST00000524215E7ESL1
ENSG00000079102ENST00000613302Q06455
ENSG00000079102ENST00000613886Q06455
ENSG00000079102ENST00000614812Q06455
ENSG00000079102ENST00000615601A0A087WWT6
ENSG00000079102ENST00000617740Q06455

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Acute myeloid leukemiaKEGGko05221
Pathways in cancerKEGGhsa05200
Acute myeloid leukemiaKEGGhsa05221
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382433032024CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.0
382433032024CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions.0
373418212023RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1.0
379512012023Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1.0
373418212023RUNX1/ETO regulates reactive oxygen species (ROS) levels in t(8,21) acute myeloid leukaemia via FLT3 and RAC1.0
379512012023Single-cell RNA-seq reveals novel immune-associated biomarkers for predicting prognosis in AML patients with RUNX1::RUNX1T1.0
357658762022Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.2
359028722022RUNX1T1 function in cell fate.2
359631852022MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1.1
357658762022Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.2
359028722022RUNX1T1 function in cell fate.2
359631852022MiR-210-3p accelerates tumor-relevant cell functions of endometrial carcinoma by repressing RUNX1T1.1
330842222021Identification of RUNX1T1 as a potential epigenetic modifier in small-cell lung cancer.7
332174772021The RUNX1/RUNX1T1 network: translating insights into therapeutic options.11
333829822021Definition 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/js/lib/case-report-explorer/favicon/favicon-32x32.png