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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_namesAML1T1
CBFA2T1
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
Alias_symbol (synonym)CDR
ETO
MTG8
ZMYND2
Other aliasETO (eigth twenty one)
CDR (cyclin D related gene),
AML1T1 (AML1 translocated to, 1),
CBFA2T1 (CBFA2 translocated to, 1)
HGNC (Hugo) RUNX1T1
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 hg19-Feb_2009)  [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 ]
On line version : http://AtlasGeneticsOncology.org/Genes/ETOID26.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(8;21)(q22;q22) RUNX1/RUNX1T1
t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia


External links

Nomenclature
HGNC (Hugo)RUNX1T1   1535
Cards
AtlasETOID26
Entrez_Gene (NCBI)RUNX1T1  862  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
WikiGenes862
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
Mapping of homologs : NCBIRUNX1T1 [Mapview hg19]  RUNX1T1 [Mapview hg38]
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
Cluster EST : UnigeneHs.739194 [ NCBI ]
CGAP (NCI)Hs.739194
Alternative Splicing GalleryENSG00000079102
Gene ExpressionRUNX1T1 [ NCBI-GEO ]   RUNX1T1 [ EBI - ARRAY_EXPRESS ]   RUNX1T1 [ SEEK ]   RUNX1T1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUNX1T1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
UniProt/SwissProtQ06455   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06455  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06455
Splice isoforms : SwissVarQ06455
PhosPhoSitePlusQ06455
Domaine pattern : Prosite (Expaxy)TAFH (PS51119)    ZF_MYND_1 (PS01360)    ZF_MYND_2 (PS50865)   
Domains : Interpro (EBI)CBFA2T1    CBFA2T1/2/3    NHR2    TAFH/NHR1_dom_sf    TAFH_NHR1    Znf_MYND   
Domain families : Pfam (Sanger)NHR2 (PF08788)    TAFH (PF07531)    zf-MYND (PF01753)   
Domain families : Pfam (NCBI)pfam08788    pfam07531    pfam01753   
Domain families : Smart (EMBL)TAFH (SM00549)  
Conserved Domain (NCBI)RUNX1T1
DMDM Disease mutations862
Blocks (Seattle)RUNX1T1
PDB (RSDB)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB Europe1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB (PDBSum)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
PDB (IMB)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
Structural Biology KnowledgeBase1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
SCOP (Structural Classification of Proteins)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
CATH (Classification of proteins structures)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
SuperfamilyQ06455
Human Protein Atlas [tissue]ENSG00000079102-RUNX1T1 [tissue]
Peptide AtlasQ06455
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
DIP (DOE-UCLA)Q06455
IntAct (EBI)Q06455
FunCoupENSG00000079102
BioGRIDRUNX1T1
STRING (EMBL)RUNX1T1
ZODIACRUNX1T1
Ontologies - Pathways
QuickGOQ06455
Ontology : AmiGODNA binding  DNA-binding transcription factor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  generation of precursor metabolites and energy  nuclear matrix  negative regulation of fat cell differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIDNA binding  DNA-binding transcription factor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleoplasm  generation of precursor metabolites and energy  nuclear matrix  negative regulation of fat cell differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  metal ion binding  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
NDEx NetworkRUNX1T1
Atlas of Cancer Signalling NetworkRUNX1T1
Wikipedia pathwaysRUNX1T1
Orthology - Evolution
OrthoDB862
GeneTree (enSembl)ENSG00000079102
Phylogenetic Trees/Animal Genes : TreeFamRUNX1T1
HOGENOMQ06455
Homologs : HomoloGeneRUNX1T1
Homology/Alignments : Family Browser (UCSC)RUNX1T1
Gene fusions - Rearrangements
Fusion : MitelmanRUNX1/RUNX1T1 [21q22.12/8q21.3]  [ins(21;8)(q22;q11q22)]  [ins(21;8)(q22;q12q22)]  
[ins(21;8)(q22;q13q22)]  [ins(21;8)(q22;q21q22)]  [ins(21;8)(q22;q22q22)]  
[ins(8;21)(q22;q22q22)]  [t(8;21)(q22;q22)]  [t(8;21;14)(q22;q22;q24)]  
Fusion : COSMICRUNX1 [21q22.12]  -  RUNX1T1 [8q21.3]  [fusion_2377]  [fusion_2379]  [fusion_2380]  [fusion_2381]  [fusion_2382]  [fusion_2383]  [fusion_2384]  
[fusion_2385]  [fusion_2386]  [fusion_2387]  [fusion_2388]  [fusion_2389]  [fusion_2390]  [fusion_2391]  [fusion_2392]  [fusion_2393]  [fusion_2394]  
[fusion_2395]  [fusion_2396]  [fusion_2397]  [fusion_2398]  
Fusion PortalRUNX1 21q22.12 RUNX1T1 8q21.3 LAML
Fusion : TICdbRUNX1 [21q22.12]  -  RUNX1T1 [8q21.3]
Fusion : FusionGDB12552    14258    19729    21809    32383    32384    32385    32386    32387    32388    32389    32390    32391    32392    32407   
Fusion : Fusion_HubAML1--RUNX1T1    ARF3--RUNX1T1    CA2--RUNX1T1    CLEC1A--RUNX1T1    FAM134A--RUNX1T1    GAD1--RUNX1T1    LIMCH1--RUNX1T1    MGAT5--RUNX1T1    PDRG1--RUNX1T1    RUNX1--RUNX1T1    RUNX1T1--ABCD3    RUNX1T1--ABL1    RUNX1T1--AML1    RUNX1T1--ANO10    RUNX1T1--ARF3   
RUNX1T1--ARL15    RUNX1T1--ATP9B    RUNX1T1--BBX    RUNX1T1--C12ORF35    RUNX1T1--E2F5    RUNX1T1--ERICH1    RUNX1T1--FAM164A    RUNX1T1--HHAT    RUNX1T1--KAT6A    RUNX1T1--KIDINS220    RUNX1T1--MALAT1    RUNX1T1--MYL9    RUNX1T1--RAD54B    RUNX1T1--RUNX1    RUNX1T1--RUNX1T1   
RUNX1T1--SDC4    RUNX1T1--SLC14A1    RUNX1T1--SLC20A2    RUNX1T1--SOX5    RUNX1T1--STXBP5    RUNX1T1--TANC2    RUNX1T1--TRIQK    RUNX1T1--VBP1    RUNX1T1--YWHAZ    RUNX1T1--ZC2HC1A    SDC2--RUNX1T1   
Fusion : QuiverRUNX1T1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUNX1T1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUNX1T1
dbVarRUNX1T1
ClinVarRUNX1T1
1000_GenomesRUNX1T1 
Exome Variant ServerRUNX1T1
ExAC (Exome Aggregation Consortium)ENSG00000079102
GNOMAD BrowserENSG00000079102
Varsome BrowserRUNX1T1
Genetic variants : HAPMAP862
Genomic Variants (DGV)RUNX1T1 [DGVbeta]
DECIPHERRUNX1T1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUNX1T1 
Mutations
ICGC Data PortalRUNX1T1 
TCGA Data PortalRUNX1T1 
Broad Tumor PortalRUNX1T1
OASIS PortalRUNX1T1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUNX1T1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRUNX1T1
Mutations and Diseases : HGMDRUNX1T1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RUNX1T1
DgiDB (Drug Gene Interaction Database)RUNX1T1
DoCM (Curated mutations)RUNX1T1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RUNX1T1 (select a term)
intoGenRUNX1T1
NCG5 (London)RUNX1T1
Cancer3DRUNX1T1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133435   
Orphanet14981   
DisGeNETRUNX1T1
MedgenRUNX1T1
Genetic Testing Registry RUNX1T1
NextProtQ06455 [Medical]
TSGene862
GENETestsRUNX1T1
Target ValidationRUNX1T1
Huge Navigator RUNX1T1 [HugePedia]
snp3D : Map Gene to Disease862
BioCentury BCIQRUNX1T1
ClinGenRUNX1T1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD862
Chemical/Pharm GKB GenePA26111
Clinical trialRUNX1T1
Miscellaneous
canSAR (ICR)RUNX1T1 (select the gene name)
DataMed IndexRUNX1T1
Probes
Litterature
PubMed164 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRUNX1T1
EVEXRUNX1T1
GoPubMedRUNX1T1
iHOPRUNX1T1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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