Human Gene RUNX1T1 (ENST00000436581.7) from GENCODE V44
Description: Homo sapiens RUNX1 partner transcriptional co-repressor 1 (RUNX1T1), transcript variant 15, mRNA. (from RefSeq NM_001198679)
RefSeq Summary (NM_001198679): This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010].
Gencode Transcript: ENST00000436581.7
Gencode Gene: ENSG00000079102.17
Transcript (Including UTRs)
Position: hg38 chr8:91,959,511-92,095,536 Size: 136,026 Total Exon Count: 12 Strand: -
Coding Region
Position: hg38 chr8:91,960,242-92,095,467 Size: 135,226 Coding Exon Count: 12
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Primer design for this transcript
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)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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.
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.
Descriptions from all associated GenBank mRNAs
MG551956 - Homo sapiens AML1-ETO fusion A5E2345 circular RNA, complete sequence.D43638 - Homo sapiens mRNA for MTG8a protein, complete cds.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.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.D13979 - Homo sapiens mRNA for AML1-MTG8 fusion protein, complete cds.D14289 - Homo sapiens mRNA for MTG8 protein, complete cds.D14821 - Homo sapiens mRNA for MTG8b protein, complete cds.AK297616 - Homo sapiens cDNA FLJ56115 complete cds, highly similar to Protein CBFA2T1.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.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.BT009871 - Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related mRNA, complete cds.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.JF432279 - Synthetic construct Homo sapiens clone IMAGE:100073451 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1) gene, encodes complete protein.AB590739 - Synthetic construct DNA, clone: pFN21AE2024, Homo sapiens RUNX1T1 gene for runt-related transcription factor 1, without stop codon, in Flexi system.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.KF946517 - Homo sapiens CBFA2T1 isoform r1t1-8a59 (RUNX1T1) mRNA, complete cds.KF946508 - Homo sapiens CBFA2T1 isoform r1t1-7a50 (RUNX1T1) mRNA, complete cds.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.KF946506 - Homo sapiens CBFA2T1 isoform r1t1-7a48 (RUNX1T1) mRNA, complete cds, alternatively spliced.KF946507 - Homo sapiens CBFA2T1 isoform r1t1-7a49 (RUNX1T1) mRNA, complete cds.CU675167 - Synthetic construct Homo sapiens gateway clone IMAGE:100020348 5' read RUNX1T1 mRNA.KF946515 - Homo sapiens CBFA2T1 isoform r1t1-8a57 (RUNX1T1) mRNA, complete cds.KF946505 - Homo sapiens CBFA2T1 isoform r1t1-7a47 (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.MG551955 - Homo sapiens AML1-ETO fusion A5E234 circular RNA, complete sequence.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.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.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.BC139783 - Homo sapiens Fc receptor, IgA, IgM, high affinity, mRNA (cDNA clone IMAGE:40025801).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.MH401090 - Homo sapiens RUNX1-RUNX1T1 fusion protein mRNA, partial cds.Z35296 - H.sapiens AML1/ETO alternative fusion transcript mRNA 276bp.JD149123 - Sequence 130147 from Patent EP1572962.S82690 - AML1-MTG8=fusion gene {alternate transcript V, junction region} [human, blood, acute myeloid leukemia FAB type M2 patient, mRNA, 271 nt].AK057707 - Homo sapiens cDNA FLJ33145 fis, clone UTERU2000154.JD430767 - Sequence 411791 from Patent EP1572962.JD054928 - Sequence 35952 from Patent EP1572962.JD340136 - Sequence 321160 from Patent EP1572962.
Other Names for This Gene
Alternate Gene Symbols: A0A0A0MSU1, ENST00000436581.1, ENST00000436581.2, ENST00000436581.3, ENST00000436581.4, ENST00000436581.5, ENST00000436581.6, NM_001198679, uc022axs.1, uc022axs.2UCSC ID: ENST00000436581.7RefSeq Accession: NM_001198679
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.