Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ETO (eigth twenty one)
MTG8
CDR (cyclin D related gene),
AML1T1 (AML1 translocated to, 1),
CBFA2T1 (CBFA2 translocated to, 1)
HGNC (Hugo) RUNX1T1
HGNC Alias symbCDR
ETO
MTG8
ZMYND2
HGNC Previous nameAML1T1
 CBFA2T1
HGNC Previous name"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related
 runt related transcription factor 1; translocated to, 1 (cyclin D related)
 RUNX1 translocation partner 1"
LocusID (NCBI) 862
Atlas_Id 26
Location 8q21.3  [Link to chromosome band 8q21]
Location_base_pair Starts at 91954967 and ends at 92017680 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RUNX1T1.png]
 
  ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GAD1 (2q31.1) / RUNX1T1 (8q21.3)KMT2A (11q23.3) / RUNX1T1 (8q21.3)LIMCH1 (4p13) / RUNX1T1 (8q21.3)
MGAT5 (2q21.2) / RUNX1T1 (8q21.3)MVB12B (9q33.3) / RUNX1T1 (8q21.3)RUNX1 (21q22.12) / RUNX1T1 (8q21.3)
RUNX1T1 (8q21.3) / BBX (3q13.12)RUNX1T1 (8q21.3) / KMT2A (11q23.3)RUNX1T1 (8q21.3) / MALAT1 (11q13.1)
RUNX1T1 (8q21.3) / RUNX1 (21q22.12)RUNX1T1 (8q21.3) / RUNX1T1 (8q21.3)RUNX1T1 (8q21.3) / STXBP5 (6q24.3)
RUNX1T1 (8q21.3) / TANC2 (17q23.2)RUNX1T1 (8q21.3) / TRIQK (8q22.1)

DNA/RNA

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

Protein

 
  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

Note
  
Entity 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/Mutated Gene 5' AML1 - 3' ETO
Abnormal 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
  

Bibliography

AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.
Nucifora G, Rowley JD
Blood. 1995 ; 86 (1) : 1-14.
PMID 7795214
 
Molecular basis of the t(8;21) translocation in acute myeloid leukaemia.
Ohki M
Seminars in cancer biology. 1993 ; 4 (6) : 369-375.
PMID 8142622
 

Citation

This paper should be referenced as such :
Huret, JL
ETO (eigth twenty one)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):46-47.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 11 ]
  21q22 rearrangements (RUNX1) in treatment related leukemia
Classification of acute myeloid leukemias
i(Xq10) in female patients
Myeloid sarcoma
r(8)
der(21)t(1;21)(q11-12;p11-13) and der(21)t(1;21)(q21-32;p11-13)
t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia
t(9;17)(p13;p12) PAX5/NCOR1
t(16;21)(q24;q22) RUNX1/CBFA2T3
Therapy-Related Hematopoietic Neoplasia


External links

Nomenclature
HGNC (Hugo)RUNX1T1   1535
Cards
AtlasETOID26
Entrez_Gene (NCBI)RUNX1T1    RUNX1 partner transcriptional co-repressor 1
AliasesAML1-MTG8; AML1T1; CBFA2T1; CDR; 
ETO; MTG8; ZMYND2
GeneCards (Weizmann)RUNX1T1
Ensembl hg19 (Hinxton)ENSG00000079102 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079102 [Gene_View]  ENSG00000079102 [Sequence]  chr8:91954967-92017680 [Contig_View]  RUNX1T1 [Vega]
ICGC DataPortalENSG00000079102
TCGA cBioPortalRUNX1T1
AceView (NCBI)RUNX1T1
Genatlas (Paris)RUNX1T1
SOURCE (Princeton)RUNX1T1
Genetics Home Reference (NIH)RUNX1T1
Genomic and cartography
GoldenPath hg38 (UCSC)RUNX1T1  -     chr8:91954967-92017680 -  8q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUNX1T1  -     8q21.3   [Description]    (hg19-Feb_2009)
GoldenPathRUNX1T1 - 8q21.3 [CytoView hg19]  RUNX1T1 - 8q21.3 [CytoView hg38]
ImmunoBaseENSG00000079102
genome Data Viewer NCBIRUNX1T1 [Mapview hg19]  
OMIM133435   
Gene and transcription
Genbank (Entrez)AA506749 AF018283 AF131817 AK057707 AK297616
RefSeq transcript (Entrez)NM_001198625 NM_001198626 NM_001198627 NM_001198628 NM_001198629 NM_001198630 NM_001198631 NM_001198632 NM_001198633 NM_001198634 NM_001198679 NM_004349 NM_175634 NM_175635 NM_175636
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RUNX1T1
Alternative Splicing GalleryENSG00000079102
Gene ExpressionRUNX1T1 [ NCBI-GEO ]   RUNX1T1 [ EBI - ARRAY_EXPRESS ]   RUNX1T1 [ SEEK ]   RUNX1T1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUNX1T1 [ Firebrowse - Broad ]
GenevisibleExpression of RUNX1T1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)862
GTEX Portal (Tissue expression)RUNX1T1
Human Protein AtlasENSG00000079102-RUNX1T1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RUNX1T1
Blocks (Seattle)RUNX1T1
Human Protein Atlas [tissue]ENSG00000079102-RUNX1T1 [tissue]
HPRD00590
IPIIPI00465350   IPI00333194   IPI00978695   IPI00978746   IPI00975673   IPI00375987   IPI00981539   IPI00977853   IPI00982829   IPI00981907   IPI00980802   IPI00983424   IPI00984193   IPI00978480   IPI00976708   IPI00981248   IPI00979882   IPI00980536   IPI00985474   IPI00983887   IPI00976431   IPI00975993   IPI00977094   IPI00979175   IPI00979440   IPI00976136   IPI00982115   IPI00980598   IPI00975775   IPI00984513   IPI00985168   
Protein Interaction databases
BioGRIDRUNX1T1
STRING (EMBL)RUNX1T1
ZODIACRUNX1T1
Ontologies - Pathways
Litterature
PubMed182 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRUNX1T1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Mar 25 19:59:51 CET 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.