RUNX1T1

Protein CBFA2T1 is a protein that in humans is encoded by the RUNX1T1 gene.

RUNX1T1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WQ6, 2DJ8, 2H7B, 2KYG, 2OD1, 2ODD, 2PP4, 4JOL
Identifiers
Aliases	RUNX1T1, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2, AML1-MTG8, t(8;21)(q22;q22), RUNX1 translocation partner 1, RUNX1 partner transcriptional co-repressor 1
External IDs	OMIM: 133435; MGI: 104793; HomoloGene: 3801; GeneCards: RUNX1T1; OMA:RUNX1T1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q21.3 Start 91,954,967 bp End 92,103,286 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 A1|4 5.88 cM Start 13,743,436 bp End 13,893,649 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte sural nerve buccal mucosa cell tendon of biceps brachii Brodmann area 23 Achilles tendon paraflocculus of cerebellum middle temporal gyrus epithelium of colon parietal pleura Top expressed in Rostral migratory stream secondary oocyte zygote internal carotid artery genital tubercle external carotid artery olfactory tubercle ascending aorta mammillary body lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding protein binding transcription corepressor activity metal ion binding Cellular component nuclear matrix nucleus nucleoplasm Biological process negative regulation of fat cell differentiation negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated generation of precursor metabolites and energy transcription, DNA-templated Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 862 12395 Ensembl ENSG00000079102 ENSMUSG00000006586 UniProt Q06455 Q61909 RefSeq (mRNA) 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 NM_001395209 NM_001111026 NM_001111027 NM_009822 RefSeq (protein) NP_001185554 NP_001185555 NP_001185556 NP_001185557 NP_001185558 NP_001185559 NP_001185560 NP_001185561 NP_001185562 NP_001185563 NP_001185608 NP_004340 NP_783552 NP_783553 NP_783554 NP_783553.1 NP_783554.1 NP_001104496 NP_001104497 NP_033952 Location (UCSC) Chr 8: 91.95 – 92.1 Mb Chr 4: 13.74 – 13.89 Mb PubMed search
Wikidata
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Function

The protein encoded by this gene is a putative zinc finger transcription factor and oncoprotein. In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 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. Several transcript variants encoding multiple isoforms have been found for this gene.

Interactions

RUNX1T1 has been shown to interact with:

• CBFA2T2,
• CBFA2T3,
• Calcitriol receptor
• GFI1,
• Nuclear receptor co-repressor 1,
• Nuclear receptor co-repressor 2,
• PRKAR2A, and
• Zinc finger and BTB domain-containing protein 16.

Further reading

• Ferrara F, Del Vecchio L (2002). "Acute myeloid leukemia with t(8;21)/AML1/ETO: a distinct biological and clinical entity". Haematologica. 87 (3): 306–19. PMID 11869944.
• Nisson PE, Watkins PC, Sacchi N (1992). "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". Cancer Genet. Cytogenet. 63 (2): 81–88. doi:10.1016/0165-4608(92)90384-K. PMID 1423235.
• Era T, Asou N, Kunisada T, Yamasaki H, Asou H, Kamada N, Nishikawa S, Yamaguchi K, Takatsuki K (1995). "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". Genes Chromosomes Cancer. 13 (1): 25–33. doi:10.1002/gcc.2870130105. PMID 7541640. S2CID 41918020.
• Tighe JE, Calabi F (1994). "Alternative, out-of-frame runt/MTG8 transcripts are encoded by the derivative (8) chromosome in the t(8;21) of acute myeloid leukemia M2". Blood. 84 (7): 2115–21. doi:10.1182/blood.V84.7.2115.2115. PMID 7919324.
• Erickson PF, Robinson M, Owens G, Drabkin HA (1994). "The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved, putative transcription factor". Cancer Res. 54 (7): 1782–6. PMID 8137293.
• Miyoshi H, Kozu T, Shimizu K, Enomoto K, Maseki N, Kaneko Y, Kamada N, Ohki M (1993). "The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript". EMBO J. 12 (7): 2715–21. doi:10.1002/j.1460-2075.1993.tb05933.x. PMC 413521. PMID 8334990.
• Kozu T, Miyoshi H, Shimizu K, Maseki N, Kaneko Y, Asou H, Kamada N, Ohki M (1993). "Junctions of the AML1/MTG8(ETO) fusion are constant in t(8;21) acute myeloid leukemia detected by reverse transcription polymerase chain reaction". Blood. 82 (4): 1270–6. doi:10.1182/blood.V82.4.1270.1270. PMID 8353289.
• Niwa-Kawakita M, Miyoshi H, Gotoh O, Matsushima Y, Nishimura M, Shisa H, Ohki M (1996). "Cloning and gene mapping of the mouse homologue of the CBFA2T1 gene associated with human acute myeloid leukemia". Genomics. 29 (3): 755–759. doi:10.1006/geno.1995.9941. PMID 8575770.
• Erickson PF, Dessev G, Lasher RS, Philips G, Robinson M, Drabkin HA (1996). "ETO and AML1 phosphoproteins are expressed in CD34+ hematopoietic progenitors: implications for t(8;21) leukemogenesis and monitoring residual disease". Blood. 88 (5): 1813–23. doi:10.1182/blood.V88.5.1813.1813. PMID 8781439.
• Wolford JK, Bogardus C, Prochazka M (1998). "Polymorphism in the 3' untranslated region of MTG8 is associated with obesity in Pima Indian males". Biochem. Biophys. Res. Commun. 246 (3): 624–626. doi:10.1006/bbrc.1998.8683. PMID 9618262.
• Sacchi N, Tamanini F, Willemsen R, Denis-Donini S, Campiglio S, Hoogeveen AT (1998). "Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells". Oncogene. 16 (20): 2609–2615. doi:10.1038/sj.onc.1201824. PMID 9632137.
• Wolford JK, Prochazka M (1998). "Structure and expression of the human MTG8/ETO gene". Gene. 212 (1): 103–109. doi:10.1016/S0378-1119(98)00141-3. PMID 9661669.
• Komori A, Sueoka E, Fujiki H, Ishii M, Kozu T (1999). "Association of MTG8 (ETO/CDR), a leukemia-related protein, with serine/threonine protein kinases and heat shock protein HSP90 in human hematopoietic cell lines". Jpn. J. Cancer Res. 90 (1): 60–8. doi:10.1111/j.1349-7006.1999.tb00666.x. PMC 5925983. PMID 10076566.
• Morohoshi F, Mitani S, Mitsuhashi N, Kitabayashi I, Takahashi E, Suzuki M, Munakata N, Ohki M (2000). "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1". Gene. 241 (2): 287–295. doi:10.1016/S0378-1119(99)00481-3. PMID 10675041.
• Melnick AM, Westendorf JJ, Polinger A, Carlile GW, Arai S, Ball HJ, Lutterbach B, Hiebert SW, Licht JD (2000). "The ETO protein disrupted in t(8;21)-associated acute myeloid leukemia is a corepressor for the promyelocytic leukemia zinc finger protein". Mol. Cell. Biol. 20 (6): 2075–2086. doi:10.1128/MCB.20.6.2075-2086.2000. PMC 110824. PMID 10688654.
• Miyamoto T, Weissman IL, Akashi K (2000). "AML1/ETO-expressing nonleukemic stem cells in acute myelogenous leukemia with 8;21 chromosomal translocation". Proc. Natl. Acad. Sci. U.S.A. 97 (13): 7521–7526. Bibcode:2000PNAS...97.7521M. doi:10.1073/pnas.97.13.7521. PMC 16578. PMID 10861016.
• Odaka Y, Mally A, Elliott LT, Meyers S (2000). "Nuclear import and subnuclear localization of the proto-oncoprotein ETO (MTG8)". Oncogene. 19 (32): 3584–3597. doi:10.1038/sj.onc.1203689. PMID 10951564.
• Wood JD, Nucifora FC, Duan K, Zhang C, Wang J, Kim Y, Schilling G, Sacchi N, Liu JM, Ross CA (2000). "Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription". J. Cell Biol. 150 (5): 939–948. doi:10.1083/jcb.150.5.939. PMC 2175251. PMID 10973986.