Human Gene RUNX1T1 (ENST00000523629.7_10) from GENCODE V47lift37
  Description: RUNX1 partner transcriptional co-repressor 1, transcript variant 2 (from RefSeq NM_175634.3)
Gencode Transcript: ENST00000523629.7_10
Gencode Gene: ENSG00000079102.18_21
Transcript (Including UTRs)
   Position: hg19 chr8:92,967,200-93,115,613 Size: 148,414 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr8:92,972,470-93,088,280 Size: 115,811 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:92,967,200-93,115,613)mRNA (may differ from genome)Protein (604 aa)
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-  Comments and Description Text from UniProtKB
  ID: MTG8_HUMAN
DESCRIPTION: RecName: Full=Protein CBFA2T1; AltName: Full=Cyclin-D-related protein; AltName: Full=Eight twenty one protein; AltName: Full=Protein ETO; AltName: Full=Protein MTG8; AltName: Full=Zinc finger MYND domain-containing protein 2;
FUNCTION: Transcription regulator that excerts its function by binding to histone deacetylases and transcription factors. Can repress transactivation mediated by TCF12.
SUBUNIT: Homotetramer. Heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1 and NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression.
INTERACTION: Self; NbExp=2; IntAct=EBI-743342, EBI-743342;
SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with ATN1 in discrete nuclear dots.
TISSUE SPECIFICITY: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
DOMAIN: The TAFH domain mediates interaction with transcription regulators.
DISEASE: Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2). Translocation t(8;21)(q22;q22) with RUNX1/AML1.
DISEASE: Defects in RUNX1T1 may be a cause of colorectal cancer (CRC) [MIM:114500].
SIMILARITY: Belongs to the CBFA2T family.
SIMILARITY: Contains 1 MYND-type zinc finger.
SIMILARITY: Contains 1 TAFH (NHR1) domain.
SEQUENCE CAUTION: Sequence=AAH05850.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA03247.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ETO.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RUNX1T1
Diseases sorted by gene-association score: acute myeloid leukemia with t(8;21)(q22;q22) translocation* (247), myeloid leukemia (29), leukemia (13), superior mesenteric artery syndrome (10), lymphoid leukemia (7), chronic purulent otitis media (6), hematologic cancer (6), leukemia, acute myeloid (4), leukemia, acute promyelocytic, somatic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.82 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 113.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -285.00614-0.464 Picture PostScript Text
3' UTR -1340.705270-0.254 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013289 - ETO
IPR013290 - MTG8
IPR014896 - NHR2
IPR003894 - TAFH_NHR1
IPR002893 - Znf_MYND

Pfam Domains:
PF01753 - MYND finger
PF07531 - NHR1 homology to TAF
PF08788 - NHR2 domain like

SCOP Domains:
158553 - TAFH domain-like
109843 - CAPPD, an extracellular domain of amyloid beta A4 protein
47857 - Apolipophorin-III
144232 - HIT/MYND zinc finger-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1WQ6 - X-ray MuPIT 2DJ8 - NMR MuPIT 2H7B - NMR MuPIT 2KNH - NMR MuPIT 2KYG - NMR MuPIT 2OD1 - NMR MuPIT 2ODD - NMR MuPIT 2PP4 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q06455
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0045599 negative regulation of fat cell differentiation
GO:0045892 negative regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016363 nuclear matrix


-  Descriptions from all associated GenBank mRNAs
  D43638 - Homo sapiens mRNA for MTG8a protein, complete cds.
BC005850 - Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related), mRNA (cDNA clone MGC:2796 IMAGE:2961112), complete cds.
BC067078 - Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related), mRNA (cDNA clone MGC:71105 IMAGE:2964656), complete cds.
D14821 - Homo sapiens mRNA for MTG8b protein, complete cds.
AK297616 - Homo sapiens cDNA FLJ56115 complete cds, highly similar to Protein CBFA2T1.
KF946509 - Homo sapiens CBFA2T1 isoform r1t1-7a51 (RUNX1T1) mRNA, complete cds, alternatively spliced.
KF946510 - Homo sapiens CBFA2T1 isoform r1t1-7a52 (RUNX1T1) mRNA, complete cds, alternatively spliced.
AK312592 - Homo sapiens cDNA, FLJ92968, highly similar to Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 1, mRNA.
AB590739 - Synthetic construct DNA, clone: pFN21AE2024, Homo sapiens RUNX1T1 gene for runt-related transcription factor 1, without stop codon, in Flexi system.
KF946508 - Homo sapiens CBFA2T1 isoform r1t1-7a50 (RUNX1T1) mRNA, complete cds.
KF946506 - Homo sapiens CBFA2T1 isoform r1t1-7a48 (RUNX1T1) mRNA, complete cds, alternatively spliced.
KF946507 - Homo sapiens CBFA2T1 isoform r1t1-7a49 (RUNX1T1) mRNA, complete cds.
KF946505 - Homo sapiens CBFA2T1 isoform r1t1-7a47 (RUNX1T1) mRNA, complete cds.
MH401090 - Homo sapiens RUNX1-RUNX1T1 fusion protein mRNA, partial cds.
S82690 - AML1-MTG8=fusion gene {alternate transcript V, junction region} [human, blood, acute myeloid leukemia FAB type M2 patient, mRNA, 271 nt].
MG551956 - Homo sapiens AML1-ETO fusion A5E2345 circular RNA, complete sequence.
AL049240 - Homo sapiens mRNA; cDNA DKFZp564B213 (from clone DKFZp564B213).
AF131817 - Homo sapiens clone 25023 mRNA sequence.
JD314115 - Sequence 295139 from Patent EP1572962.
JD307671 - Sequence 288695 from Patent EP1572962.
JD137442 - Sequence 118466 from Patent EP1572962.
X79990 - H.sapiens ETO mRNA.
E07332 - DNA fragment including the fusion part in AML1(acute myeloleukemia)-MTG8 fusion DNA.
S78158 - Homo sapiens AMLI-ETO fusion protein (AML1-ETO) mRNA, partial cds.
D13979 - Homo sapiens mRNA for AML1-MTG8 fusion protein, complete cds.
D14289 - Homo sapiens mRNA for MTG8 protein, complete cds.
JD553782 - Sequence 534806 from Patent EP1572962.
JD549604 - Sequence 530628 from Patent EP1572962.
JD545562 - Sequence 526586 from Patent EP1572962.
KJ189466 - Homo sapiens isolate Seg105 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, partial cds, alternatively spliced.
KJ189469 - Homo sapiens isolate Seg108 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, partial cds, alternatively spliced.
KJ189467 - Homo sapiens isolate Seg106 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KF946523 - Homo sapiens CBFA2T1 isoform r1t1-11a65 (RUNX1T1) mRNA, complete cds.
KJ189468 - Homo sapiens isolate Seg107 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KF946518 - Homo sapiens CBFA2T1 isoform r1t1-8a60 (RUNX1T1) mRNA, complete cds.
KF946514 - Homo sapiens CBFA2T1 isoform r1t1-7d56 (RUNX1T1) mRNA, complete cds.
BT009871 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related mRNA, complete cds.
JF432279 - Synthetic construct Homo sapiens clone IMAGE:100073451 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1) gene, encodes complete protein.
CR456792 - Homo sapiens full open reading frame cDNA clone RZPDo834F0321D for gene CBFA2T1, core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related; complete cds, incl. stopcodon.
AF018283 - Homo sapiens putative transcription factor (MTG8) mRNA, alternatively spliced, partial cds.
KF946521 - Homo sapiens CBFA2T1 isoform r1t1-11a63 (RUNX1T1) mRNA, complete cds.
KF946522 - Homo sapiens CBFA2T1 isoform r1t1-11a64 (RUNX1T1) mRNA, complete cds, alternatively spliced.
KF946517 - Homo sapiens CBFA2T1 isoform r1t1-8a59 (RUNX1T1) mRNA, complete cds.
KF946520 - Homo sapiens CBFA2T1 isoform r1t1-11a62 (RUNX1T1) mRNA, complete cds.
KJ189465 - Homo sapiens isolate Seg104 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KF946516 - Homo sapiens CBFA2T1 isoform r1t1-8a58 (RUNX1T1) mRNA, complete cds.
KF946511 - Homo sapiens CBFA2T1 isoform r1t1-7d53 (RUNX1T1) mRNA, complete cds.
KF946512 - Homo sapiens CBFA2T1 isoform r1t1-7d54 (RUNX1T1) mRNA, complete cds, alternatively spliced.
KF946513 - Homo sapiens CBFA2T1 isoform r1t1-7d55 (RUNX1T1) mRNA, complete cds, alternatively spliced.
BC139783 - Homo sapiens Fc receptor, IgA, IgM, high affinity, mRNA (cDNA clone IMAGE:40025801).
CU675167 - Synthetic construct Homo sapiens gateway clone IMAGE:100020348 5' read RUNX1T1 mRNA.
KJ189472 - Homo sapiens isolate Seg112 RUNX1/RUNX1T1 fusion mRNA, complete sequence, alternatively spliced.
KJ189474 - Homo sapiens isolate Seg114 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
KJ189473 - Homo sapiens isolate Seg113 RUNX1/RUNX1T1 fusion mRNA, complete sequence, alternatively spliced.
KF946519 - Homo sapiens CBFA2T1 isoform r1t1-11a61 (RUNX1T1) mRNA, complete cds.
KF946515 - Homo sapiens CBFA2T1 isoform r1t1-8a57 (RUNX1T1) mRNA, complete cds.
KJ189470 - Homo sapiens isolate Seg110 RUNX1/RUNX1T1 fusion protein (RUNX1/RUNX1T1 fusion) mRNA, complete cds, alternatively spliced.
D14823 - Homo sapiens AML1/MTG8(ETO) mRNA for chimeric protein, partial cds, clone: CH15.
S78159 - Homo sapiens AML1-ETO fusion protein (AML1-ETO) mRNA, partial cds.
D14822 - Homo sapiens AML1/MTG8(ETO) mRNA for chimeric protein, partial cds, clone: CH9.
Z35296 - H.sapiens AML1/ETO alternative fusion transcript mRNA 276bp.
JD149123 - Sequence 130147 from Patent EP1572962.
MG551955 - Homo sapiens AML1-ETO fusion A5E234 circular RNA, complete sequence.
JD247922 - Sequence 228946 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AML1T1, B7Z4P4, CBFA2T1, CDR, E7EPN4, ENST00000523629.1, ENST00000523629.2, ENST00000523629.3, ENST00000523629.4, ENST00000523629.5, ENST00000523629.6, ETO, MTG8, MTG8_HUMAN, NM_175634, O14784, Q06455, Q06456, Q14873, Q16239, Q16346, Q16347, Q6IBL1, Q6NXH1, Q7Z4J5, Q92479, Q9BRZ0, uc323ycg.1, uc323ycg.2, ZMYND2
UCSC ID: ENST00000523629.7_10
RefSeq Accession: NM_175634.3
Protein: Q06455 (aka MTG8_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.