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

Identity

Other namesETO (eigth twenty one)
MTG8
CDR (cyclin D related gene),
AML1T1 (AML1 translocated to, 1),
CBFA2T1 (CBFA2 translocated to, 1)
HGNC (Hugo) RUNX1T1
LocusID (NCBI) 862
Location 8q21.3
Location_base_pair Starts at 92967195 and ends at 93107882 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

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

Entity t(8;21)(q24;q22)/ANLL. --> AML1 - ETO
Disease ANLL, M2 mostly
Prognosis CR is obtained; median survival (1.5-2 yrs) is the range with other ANLL 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
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias t0817q24q22ID1494 t1119q23p13ID1540 t614p25q32IRF4IGHID1175

External links

Nomenclature
HGNC (Hugo)RUNX1T1   1535
Cards
AtlasETO
Entrez_Gene (NCBI)RUNX1T1  862  runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
GeneCards (Weizmann)RUNX1T1
Ensembl (Hinxton)ENSG00000079102 [Gene_View]  chr8:92967195-93107882 [Contig_View]  RUNX1T1 [Vega]
ICGC DataPortalENSG00000079102
cBioPortalRUNX1T1
AceView (NCBI)RUNX1T1
Genatlas (Paris)RUNX1T1
WikiGenes862
SOURCE (Princeton)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
Genomic and cartography
GoldenPath (UCSC)RUNX1T1  -  8q21.3   chr8:92967195-93107882 -  8q22   [Description]    (hg19-Feb_2009)
EnsemblRUNX1T1 - 8q22 [CytoView]
Mapping of homologs : NCBIRUNX1T1 [Mapview]
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)AC_000140 NC_000008 NC_018919 NG_023272 NT_008046 NW_001839136 NW_004929340
Consensus coding sequences : CCDS (NCBI)RUNX1T1
Cluster EST : UnigeneHs.739194 [ NCBI ]
CGAP (NCI)Hs.739194
Alternative Splicing : Fast-db (Paris)GSHG0029712
Alternative Splicing GalleryENSG00000079102
Gene ExpressionRUNX1T1 [ NCBI-GEO ]     RUNX1T1 [ SEEK ]   RUNX1T1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06455 (Uniprot)
NextProtQ06455  [Medical]
With graphics : InterProQ06455
Splice isoforms : SwissVarQ06455 (Swissvar)
Domaine pattern : Prosite (Expaxy)TAFH (PS51119)    ZF_MYND_1 (PS01360)    ZF_MYND_2 (PS50865)   
Domains : Interpro (EBI)ETO [organisation]   MTG8 [organisation]   NHR2 [organisation]   TAFH_NHR1 [organisation]   Znf_MYND [organisation]  
Related proteins : CluSTrQ06455
Domain families : Pfam (Sanger)NHR2 (PF08788)    TAFH (PF07531)    zf-MYND (PF01753)   
Domain families : Pfam (NCBI)pfam08788    pfam07531    pfam01753   
Domain families : Smart (EMBL)TAFH (SM00549)  
DMDM Disease mutations862
Blocks (Seattle)Q06455
PDB (SRS)1WQ6    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   
PDB (RSDB)1WQ6    2DJ8    2H7B    2KNH    2KYG    2OD1    2ODD    2PP4    4JOL   
Human Protein AtlasENSG00000079102 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ06455
Interologous Interaction database Q06455
IntegromeDBRUNX1T1
STRING (EMBL)RUNX1T1
Ontologies - Pathways
Ontology : AmiGODNA binding  sequence-specific DNA binding transcription factor activity  protein binding  generation of precursor metabolites and energy  transcription, DNA-templated  nuclear matrix  identical protein binding  protein homodimerization activity  fat cell differentiation  metal ion binding  regulation of DNA binding  
Ontology : EGO-EBIDNA binding  sequence-specific DNA binding transcription factor activity  protein binding  generation of precursor metabolites and energy  transcription, DNA-templated  nuclear matrix  identical protein binding  protein homodimerization activity  fat cell differentiation  metal ion binding  regulation of DNA binding  
Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
Protein Interaction DatabaseRUNX1T1
Wikipedia pathwaysRUNX1T1
Gene fusion - rearrangments
Rearrangement : TICdbRUNX1 [21q22.12]  -  RUNX1T1 [Xp11.23]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)RUNX1T1
snp3D : Map Gene to Disease862
SNP (GeneSNP Utah)RUNX1T1
SNP : HGBaseRUNX1T1
Genetic variants : HAPMAPRUNX1T1
Exome VariantRUNX1T1
1000_GenomesRUNX1T1 
ICGC programENSG00000079102 
Cancer Gene: CensusRUNX1T1 
Somatic Mutations in Cancer : COSMICRUNX1T1 
CONAN: Copy Number AnalysisRUNX1T1 
Mutations and Diseases : HGMDRUNX1T1
Genomic VariantsRUNX1T1  RUNX1T1 [DGVbeta]
dbVarRUNX1T1
ClinVarRUNX1T1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM133435   
MedgenRUNX1T1
GENETestsRUNX1T1
Disease Genetic AssociationRUNX1T1
Huge Navigator RUNX1T1 [HugePedia]  RUNX1T1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneRUNX1T1
Homology/Alignments : Family Browser (UCSC)RUNX1T1
Phylogenetic Trees/Animal Genes : TreeFamRUNX1T1
Chemical/Protein Interactions : CTD862
Chemical/Pharm GKB GenePA26111
Clinical trialRUNX1T1
Cancer Resource (Charite)ENSG00000079102
Other databases
Probes
ProbeETO (8q22) in normal cells (Bari)
Litterature
PubMed121 Pubmed reference(s) in Entrez
CoreMineRUNX1T1
iHOPRUNX1T1

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written10-1997Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret JL
RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related));
Atlas Genet Cytogenet Oncol Haematol. October 1997
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/ETO.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:53:16 CEST 2014

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jlhuret@AtlasGeneticsOncology.org.