ETO (eigth twenty one)

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

Identity

Other names	MTG8
	CDR (cyclin D related gene),
	AML1T1 (AML1 translocated to, 1),
	CBFA2T1 (CBFA2 translocated to, 1)
HGNC	RUNX1T1
Location	8q22
	ETO (8q22) in normal cells: clone dJ1155L8 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi

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

External links

	Nomenclature
HGNC	RUNX1T1   1535
Entrez_Gene	RUNX1T1  862  runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
	Cards
Atlas	ETO
GeneCards	RUNX1T1
Ensembl	RUNX1T1 [Search_View]   ENSG00000079102 [Gene_View]
Genatlas	RUNX1T1
GeneLynx	RUNX1T1
eGenome	RUNX1T1
euGene	862
	Genomic and cartography
GoldenPath	RUNX1T1  -  8q22   chr8:93040328-93144367 -  8q22   [Description]    (hg18-Mar_2006)
Ensembl	RUNX1T1 - 8q22 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	RUNX1T1
	Gene and transcription
Genbank	AA506749 [ ENTREZ ]
Genbank	AF018283 [ ENTREZ ]
Genbank	AK312592 [ ENTREZ ]
Genbank	BC005850 [ ENTREZ ]
Genbank	BC067078 [ ENTREZ ]
RefSeq	NM_004349 [ SRS ]    NM_004349 [ ENTREZ ]
RefSeq	NM_175634 [ SRS ]    NM_175634 [ ENTREZ ]
RefSeq	NM_175635 [ SRS ]    NM_175635 [ ENTREZ ]
RefSeq	NM_175636 [ SRS ]    NM_175636 [ ENTREZ ]
RefSeq	AC_000051 [ SRS ]    AC_000051 [ ENTREZ ]
RefSeq	AC_000140 [ SRS ]    AC_000140 [ ENTREZ ]
RefSeq	NC_000008 [ SRS ]    NC_000008 [ ENTREZ ]
RefSeq	NT_008046 [ SRS ]    NT_008046 [ ENTREZ ]
RefSeq	NW_001839136 [ SRS ]    NW_001839136 [ ENTREZ ]
RefSeq	NW_923984 [ SRS ]    NW_923984 [ ENTREZ ]
AceView	RUNX1T1 AceView - NCBI
Unigene	Hs.368431 [ SRS ]    Hs.368431 [ NCBI ]     HS368431 [ spliceNest ]
Fast-db	6671 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q06455 [ SRS]    Q06455 [ EXPASY ]     Q06455 [ INTERPRO ]     Q06455 [ UNIPROT ]
Prosite	PS51119 TAFH [ SRS ]    PS51119 TAFH [ Expasy ]
Prosite	PS01360 ZF_MYND_1 [ SRS ]    PS01360 ZF_MYND_1 [ Expasy ]
Prosite	PS50865 ZF_MYND_2 [ SRS ]    PS50865 ZF_MYND_2 [ Expasy ]
Interpro	IPR013289 ETO [ SRS ]    IPR013289 ETO [ EBI ]
Interpro	IPR013290 MTG8 [ SRS ]    IPR013290 MTG8 [ EBI ]
Interpro	IPR014896 NHR2 [ SRS ]    IPR014896 NHR2 [ EBI ]
Interpro	IPR003894 TAFH_NHR1 [ SRS ]    IPR003894 TAFH_NHR1 [ EBI ]
Interpro	IPR002893 Znf_MYND [ SRS ]    IPR002893 Znf_MYND [ EBI ]
CluSTr	Q06455
Pfam	PF08788 NHR2 [ SRS ]    PF08788 NHR2 [ Sanger ]    pfam08788 [ NCBI-CDD ]
Pfam	PF07531 TAFH [ SRS ]    PF07531 TAFH [ Sanger ]    pfam07531 [ NCBI-CDD ]
Pfam	PF01753 zf-MYND [ SRS ]    PF01753 zf-MYND [ Sanger ]    pfam01753 [ NCBI-CDD ]
Smart	SM00549 TAFH [EMBL]
Blocks	Q06455
PDB	1WQ6 [ SRS ]    1WQ6 [ PdbSum ],   1WQ6 [ IMB ]   1WQ6 [ RSDB ]
PDB	2DJ8 [ SRS ]    2DJ8 [ PdbSum ],   2DJ8 [ IMB ]   2DJ8 [ RSDB ]
PDB	2H7B [ SRS ]    2H7B [ PdbSum ],   2H7B [ IMB ]   2H7B [ RSDB ]
PDB	2OD1 [ SRS ]    2OD1 [ PdbSum ],   2OD1 [ IMB ]   2OD1 [ RSDB ]
PDB	2ODD [ SRS ]    2ODD [ PdbSum ],   2ODD [ IMB ]   2ODD [ RSDB ]
PDB	2PP4 [ SRS ]    2PP4 [ PdbSum ],   2PP4 [ IMB ]   2PP4 [ RSDB ]
HPRD	00590
	Protein Interaction databases
DIP	Q06455
IntAct	Q06455
	Polymorphism : SNP, mutations, diseases
OMIM	133435    [ map ]
GENECLINICS	133435
SNP	RUNX1T1 [dbSNP-NCBI]
SNP	NM_004349 [SNP-NCI]
SNP	NM_175634 [SNP-NCI]
SNP	NM_175635 [SNP-NCI]
SNP	NM_175636 [SNP-NCI]
SNP	RUNX1T1 [GeneSNPs - Utah]  RUNX1T1] [HGBASE - SRS]
HAPMAP	RUNX1T1 [HAPMAP]
COSMIC	RUNX1T1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	RUNX1T1 [Translocation breakpoints In Cancer]
HGMD	RUNX1T1
	General knowledge
Family Browser	RUNX1T1 [UCSC Family Browser]
SOURCE	NM_004349
SOURCE	NM_175634
SOURCE	NM_175635
SOURCE	NM_175636
SMD	Hs.368431
SAGE	Hs.368431
GO	transcription factor activity [Amigo]  transcription factor activity
GO	transcription factor activity [Amigo]  transcription factor activity
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	generation of precursor metabolites and energy [Amigo]  generation of precursor metabolites and energy
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	zinc ion binding [Amigo]  zinc ion binding
GO	metal ion binding [Amigo]  metal ion binding
PubGene	RUNX1T1
TreeFam	RUNX1T1
CTD	862 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	ETO (8q22) in normal cells (Bari)
Probe	RUNX1T1 Related clones (RZPD - Berlin)
	PubMed
PubMed	74 Pubmed reference(s) in LocusLink

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	10-1997	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . ETO (eigth twenty one); RUNX1T1 (runt-related transcription factor 1; translocated to, 1 (cyclin D-related)). Atlas Genet Cytogenet Oncol Haematol. October 1997 . URL : http://AtlasGeneticsOncology.org/Genes/ETO.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Aug 11 21:13:41 2008