RUNX1T1 Gene
protein-coding GIFtS : 56
GC08M093041
runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (Previous names: core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: AML1T1, CBFA2T1 )
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Aliases & Descriptions for RUNX1T1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases AML1T1 2 , 3 CBFA2T1 2 , 3 CDR 1 , 2 , 3 ETO 1 , 2 , 3 MGC2796 2 MTG8 1 , 2 , 3 MTG8b 2 ZMYND2 1 , 2 , 3
Descriptions Cyclin-D-related protein 3 Eight twenty one protein 2 , 3 Protein ETO 3 Protein MTG8 3 Zinc finger MYND domain-containing protein 2 3 acute myelogenous leukemia 1 translocation 1 protein 2 acute myelogenous leukemia 1 translocation 1, cyclin-D related 2 core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related 1 , 2 myeloid translocation gene on 8q22 2 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 2
Search outside databases for aliases for RUNX1T1 gene
Summaries for RUNX1T1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for RUNX1T1 : The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. Inacute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one ofthe most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up ofthe 5'-region of the RUNX1 gene fused to the 3'-region of this gene. The chimericprotein is thought to associate with the nuclear corepressor/histone deacetylase complex to blockhematopoietic differentiation. Several transcript variants encoding multiple isoforms have beenfound for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455 Function : Transcription regulator that excerts its function by binding to histone deacetylases andtranscription factors. Can repress transactivation mediated by TCF12
Gene Wiki entry for RUNX1T1
Genomic Location for RUNX1T1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the RUNX1T1 gene Entrez Gene cytogenetic band: 8q22 Ensembl cytogenetic band: 8q21.3 HGNC cytogenetic band: 8q22 RUNX1T1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M093041:
(about GC identifiers )
Start:
93,040,328 bp from pter
End:
93,176,619 bp from pter
Size:
136,292 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000008.9 NT_008046.15 Proteins for RUNX1T1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455 (See
protein sequence )Recommended Name: Protein CBFA2T1 Size : 604 amino acids; 67566 Da
Subunit : Homotetramer, and heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A,HDAC1, HDAC2, HDAC3, NCOR1 and NCOR2
Subcellular location : Nucleus (Potential)
PDB structures from and Proteopedia : 1WQ6 (3D)
 2DJ8 (3D)
 2H7B (3D)
 2OD1 (3D)
 2ODD (3D)
 2PP4 (3D)
 
Secondary accessions : O14784 Q06456 Q14873 Q16239 Q16346 Q16347 Q6IBL1 Q92479 Q9BRZ0Alternative splicing : 2 isoforms : Q06455-1 Q06455-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_004340.1 NP_783552.1 NP_783553.1 NP_783554.1 ENSEMBL proteins: ENSP00000379520 ENSP00000353504 ENSP00000265814 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): RUNX1T1 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table Antibodies for RUNX1T1: Assays for RUNX1T1:
Protein
Domains/ Families for RUNX1T1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q06455 ProtoNet protein and cluster: Q06455
2 Blocks protein families : IPB002893 Zn-finger IPB003894 TAF-like region UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455 Domain : The TAFH domain mediates interaction with transcription regulatorsSimilarity : Belongs to the CBFA2T familySimilarity : Contains 1 MYND-type zinc fingerSimilarity : Contains 1 TAFH (NHR1) domain
Gene Function for RUNX1T1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_004349 Applied Biosystems Silencer ® siRNAs for RUNX1T1 Sigma-Aldrich siRNA for RUNX1T1 Sigma-Aldrich shRNA for RUNX1T1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_004349                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_004349                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_004349  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_175634 UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455 Function : Transcription regulator that excerts its function by binding to histone deacetylases andtranscription factors. Can repress transactivation mediated by TCF12
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Runx1t1) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for RUNX1T1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for RUNX1T1 5/35 Interacting proteins for RUNX1T1 (Q06455 1 , 2 ENSP00000265814 3 ) via UniProtKB, MINT, and/or STRING (see all 35
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for RUNX1T1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for RUNX1T1 4 Novoseek chemical compound relationships for RUNX1T1 gene
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Transcripts for RUNX1T1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_004349 Sigma-Aldrich siRNA for RUNX1T1 Sigma-Aldrich shRNA for RUNX1T1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004349 NM_175634 NM_175635 NM_175636
REFSEQ mRNAs for RUNX1T1 gene (4 alternative transcripts): NM_004349.2 NM_175634.1 NM_175635.1 NM_175636.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004349 NM_175634 NM_175635 NM_175636
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_004349                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_004349                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_004349  
Additional cDNA sequence: AF018283.1 AK057707.1 AK297616.1 AK312592.1 BC005850.1 BC067078.1 BC139783.1 BT009871.1 CR456792.1 CR619328.1 D14289.1 D14821.1 D43638.1 S82690.1 X79990.1 Z35296.1
24/28 DOTS entries (see all 28
): DT.95267501 DT.121484056 DT.92474135 DT.95267503 DT.92474122 DT.65285691 DT.95267502 DT.121484123 DT.40191474 DT.121484036 DT.121484082 DT.121484027 DT.121484113 DT.92474131 DT.121484088 DT.215536 DT.407290 DT.100023769 DT.121484092 DT.121484105 DT.406088 DT.95207072 DT.121484035 DT.121484103
24/83 AceView cDNA sequences (see all 83
):BT009871 AL536357 H80492 AA992855 BQ632275 CA849037 F02579 NM_175635 AU117637 N75054 AK057707 AL599454 CR619328 H46979 NM_175634 BC005850 H94855 X79990 BC067078 AI804854 CA844294 CA844355 NM_175636 CA848975
highest scoring ESTs for RUNX1T1 :AW409814 AW411004 AW898376 BC005850 BC067078 N75403 AA247686 AA463390 AA506749 AA904353
Unigene Cluster for RUNX1T1: Runt-related transcription factor 1; translocated to, 1 (cyclin D-related) Hs.368431 [show with all ESTs ] Unigene Representative Sequence: NM_004349 GeneLoc Exon Structure 5/26 Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1T1 (see all 26
) ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10a · 10b · SP1 :                         -   -   -   -   -   -   -   -               SP2 :                   -   -   -   -   -   -   -   -   -   -   -               SP3 :                                   -   -   -               SP4 :                                                     SP5 :           -   -   -     -       -   -   -   -   -   -   -   -              
ExUns: 10c · 10d · 10e · 10f · 10g ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b SP1 :             -       -                 SP2 :             -       -                 SP3 :             -       -                 SP4 :             -       -                 SP5 :                                  
About this scheme ECgene alternative splicing isoforms for RUNX1T1 3 Ensembl transcripts including schematic representations : ENST00000396218
ENST00000360348
ENST00000265814
Expression for RUNX1T1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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RUNX1T1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for RUNX1T1 1 / 2 / 3
13 probe-sets matching RUNX1T1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.368431 UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455 Tissue specificity : Most abundantly expressed in brain. Lower levels in lung, heart, testis andovary
Orthologs for RUNX1T1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for RUNX1T1 gene from 5/7 species (see all 7
)
About this table Species with no ortholog for RUNX1T1 ENSEMBL Gene Tree for RUNX1T1 Paralogs for RUNX1T1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for RUNX1T1 gene CBFA2T3 2 CBFA2T2 2
SNPs/Variants for RUNX1T1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for RUNX1T1 (up to first 250kb)
Disorders & Mutations for RUNX1T1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 133435 UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455
A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2).Translocation t(8;21)(q22;q22) with RUNX1/AML1 Defects in RUNX1T1 may be a cause of colorectal cancer (CRC) [MIM:114500]
10/11 Novoseek disease relationships for RUNX1T1 gene (see all 11
)
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Medical News for RUNX1T1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for RUNX1T1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/163 PubMed articles for RUNX1T1 gene (see all 163
): Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PubMed id 7541640) 1, 3, 4 Era T.... Takatsuki K. (1995) Structure and expression of the human MTG8/ETO gene. (PubMed id 9661669) 1, 3, 4 Wolford J.K. and Prochazka M. (1998) CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PubMed id 9790752) 1, 2, 3 Calabi F. and Cilli V. (1998) The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. (PubMed id 8334990) 1, 3, 4 Miyoshi H.... Ohki M. (1993) Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. (PubMed id 1423235) 1, 3, 4 Nisson P.E.... Sacchi N. (1992) The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity. (PubMed id 16616331) 3, 4 Liu Y....Bushweller J.H. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) The transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies. (PubMed id 12242670) 3, 4 Hoogeveen A.T.... Sacchi N. (2002) Alternative, out-of-frame runt/MTG8 transcripts are encoded by the derivative (8) chromosome in the t(8;21) of acute myeloid leukemia M2. (PubMed id 7919324) 3, 4 Tighe J.E. and Calabi F. (1994) The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved putative transcription factor. (PubMed id 8137293) 3, 4 Erickson P.F.... Drabkin H.A. (1994)
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Genome Databases showing RUNX1T1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing RUNX1T1
(According to HUGE )
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Specialized Databases showing RUNX1T1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for RUNX1T1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for RUNX1T1:
Antibodies & Assays for RUNX1T1   (ETO)
Search Tocris compounds for RUNX1T1
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Aliases for RUNX1T1
Databases for RUNX1T1
Disorders for RUNX1T1
Domains/Families for RUNX1T1
Drugs/Compounds for RUNX1T1
Expression for RUNX1T1
Function for RUNX1T1
Location for RUNX1T1
Medical News for RUNX1T1
Orthologs for RUNX1T1
Paralogs for RUNX1T1
Pathways/Interactions for RUNX1T1
Proteins for RUNX1T1
Publications for RUNX1T1
SNPs for RUNX1T1
Search Box for RUNX1T1
Services for RUNX1T1
Summaries for RUNX1T1
Technologies for RUNX1T1
Transcripts for RUNX1T1
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009