RUNX1T1

From Wikipedia, the free encyclopedia


Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
PDB rendering based on 1wq6.
Available structures: 1wq6, 2dj8, 2h7b
Identifiers
Symbol(s) RUNX1T1; AML1T1; CBFA2T1; CDR; ETO; MGC2796; MTG8; MTG8b; ZMYND2
External IDs OMIM: 133435 MGI: 104793 HomoloGene: 3801
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 862 12395
Ensembl ENSG00000079102 ENSMUSG00000006586
Uniprot Q06455 Q61909
Refseq NM_004349 (mRNA)
NP_004340 (protein)		 XM_975417 (mRNA)
XP_980511 (protein)
Location Chr 8: 93.04 - 93.18 Mb Chr 4: 13.67 - 13.82 Mb
Pubmed search [1] [2]

Runt-related transcription factor 1; translocated to, 1 (cyclin D-related), also known as RUNX1T1, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related).

[edit] 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. 
  • Erickson P, Gao J, Chang KS, et al. (1992). "Identification of breakpoints in t(8;21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt.". Blood 80 (7): 1825–31. PMID 1391946. 
  • 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): 81–8. PMID 1423235. 
  • Era T, Asou N, Kunisada T, et al. (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. PMID 7541640. 
  • 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. 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, et al. (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. PMID 8334990. 
  • Kozu T, Miyoshi H, Shimizu K, et al. (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. PMID 8353289. 
  • Niwa-Kawakita M, Miyoshi H, Gotoh O, et al. (1996). "Cloning and gene mapping of the mouse homologue of the CBFA2T1 gene associated with human acute myeloid leukemia.". Genomics 29 (3): 755–9. doi:10.1006/geno.1995.9941. PMID 8575770. 
  • Erickson PF, Dessev G, Lasher RS, et al. (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. 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): 624–6. doi:10.1006/bbrc.1998.8683. PMID 9618262. 
  • Sacchi N, Tamanini F, Willemsen R, et al. (1998). "Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells.". Oncogene 16 (20): 2609–15. 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): 103–9. PMID 9661669. 
  • Calabi F, Cilli V (1998). "CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family.". Genomics 52 (3): 332–41. doi:10.1006/geno.1998.5429. PMID 9790752. 
  • Komori A, Sueoka E, Fujiki H, et al. (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. PMID 10076566. 
  • Morohoshi F, Mitani S, Mitsuhashi N, et al. (2000). "Structure and expression pattern of a human MTG8/ETO family gene, MTGR1.". Gene 241 (2): 287–95. PMID 10675041. 
  • Melnick AM, Westendorf JJ, Polinger A, et al. (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): 2075–86. 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): 7521–6. 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): 3584–97. doi:10.1038/sj.onc.1203689. PMID 10951564. 
  • Wood JD, Nucifora FC, Duan K, et al. (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): 939–48. PMID 10973986. 
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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD