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Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)
Available structures
1cmo, 1co1, 1e50, 1ean, 1eao, 1eaq, 1h9d, 1hjb, 1hjc, 1io4, 1ljm
Identifiers
Symbols RUNX1; AML1; AML1-EVI-1; AMLCR1; CBFA2; EVI-1; PEBP2aB
External IDs OMIM151385 HomoloGene1331 GeneCards: RUNX1 Gene
RNA expression pattern
PBB GE RUNX1 208129 x at tn.png
PBB GE RUNX1 209359 x at tn.png
PBB GE RUNX1 209360 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 861 n/a
Ensembl ENSG00000159216 n/a
UniProt Q01196 n/a
RefSeq (mRNA) NM_001001890 n/a
RefSeq (protein) NP_001001890 n/a
Location (UCSC) Chr 21:
35.08 - 35.34 Mb
n/a
PubMed search [1] n/a

RUNX1 is an eukaryotic gene and the protein encoded by this gene is a transcription factor associated with M2 AML, a type of leukemia. It belongs to the Runt-related transcription factor (RUNX) family of genes which are also called core binding factor-α (CBFα). RUNX proteins form a heterodimeric complex with CBFβ which confers increased DNA binding and stability to the complex.

Contents

Function

RUNX1 is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Two transcript variants encoding different isoforms have been found for this gene.[1] The consensus binding site for CBF has been identified to be a 7 bp sequence PyGPyGGTPy. Py denotes pyrimidine which can be either cytosine or thymine.[2]

Mouse knockout

Mice embryos with homozygous mutations on RUNX1 died at about 12.5 days. The embryos displayed lack of fetal liver hematopoiesis.[3]

Similar experiments from a different research group demonstrated that the knockout embryos die between embryonic days 11.5 and 12.5 due to hemorrhaging in the central nervous system (CNS).[4]

Interactions

RUNX1 has been shown to interact with TLE1,[5] C-jun,[6][7] Calcitriol receptor,[8] SUV39H1[9] and C-Fos.[6][7]

See also

References

  1. ^ "Entrez Gene: RUNX1 runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=861.  
  2. ^ Melnikova IN, Crute BE, Wang S, Speck NA (April 1993). "Sequence specificity of the core-binding factor". J. Virol. 67 (4): 2408–11. PMID 8445737. PMC 240414. http://jvi.asm.org/cgi/content/abstract/67/4/2408.  
  3. ^ Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR (January 1996). "AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis". Cell 84 (2): 321–30. doi:10.1016/S0092-8674(00)80986-1. PMID 8565077.  
  4. ^ Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, Speck NA (April 1996). "Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis". Proc. Natl. Acad. Sci. U.S.A. 93 (8): 3444–9. doi:10.1073/pnas.93.8.3444. PMID 8622955. PMC 39628. http://www.pnas.org/content/93/8/3444.abstract.  
  5. ^ Levanon, D; Goldstein R E, Bernstein Y, Tang H, Goldenberg D, Stifani S, Paroush Z, Groner Y (Sep. 1998). "Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (20): 11590–5. ISSN 0027-8424. PMID 9751710.  
  6. ^ a b Hess, J; Porte D, Munz C, Angel P (Jun. 2001). "AP-1 and Cbfa/runt physically interact and regulate parathyroid hormone-dependent MMP13 expression in osteoblasts through a new osteoblast-specific element 2/AP-1 composite element". J. Biol. Chem. (United States) 276 (23): 20029–38. doi:10.1074/jbc.M010601200. ISSN 0021-9258. PMID 11274169.  
  7. ^ a b D'Alonzo, Richard C; Selvamurugan Nagarajan, Karsenty Gerard, Partridge Nicola C (Jan. 2002). "Physical interaction of the activator protein-1 factors c-Fos and c-Jun with Cbfa1 for collagenase-3 promoter activation". J. Biol. Chem. (United States) 277 (1): 816–22. doi:10.1074/jbc.M107082200. ISSN 0021-9258. PMID 11641401.  
  8. ^ Puccetti, Elena; Obradovic Darja, Beissert Tim, Bianchini Andrea, Washburn Birgit, Chiaradonna Ferdinando, Boehrer Simone, Hoelzer Dieter, Ottmann Oliver Gerhard, Pelicci Pier Giuseppe, Nervi Clara, Ruthardt Martin (Dec. 2002). "AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor". Cancer Res. (United States) 62 (23): 7050–8. ISSN 0008-5472. PMID 12460926.  
  9. ^ Chakraborty, Soumen; Sinha Kislay Kumar, Senyuk Vitalyi, Nucifora Giuseppina (Aug. 2003). "SUV39H1 interacts with AML1 and abrogates AML1 transactivity. AML1 is methylated in vivo". Oncogene (England) 22 (34): 5229–37. doi:10.1038/sj.onc.1206600. ISSN 0950-9232. PMID 12917624.  

Further reading

  • Nucifora G, Rowley JD (1995). "AML1 and the 8;21 and 3;21 translocations in acute and chronic myeloid leukemia.". Blood 86 (1): 1–14. PMID 7795214.  
  • Perry C, Eldor A, Soreq H (2002). "Runx1/AML1 in leukemia: disrupted association with diverse protein partners.". Leuk. Res. 26 (3): 221–8. doi:10.1016/S0145-2126(01)00128-X. PMID 11792409.  
  • Imai O, Kurokawa M, Izutsu K, et al. (2003). "Mutational analyses of the AML1 gene in patients with myelodysplastic syndrome.". Leuk. Lymphoma 43 (3): 617–21. doi:10.1080/10428190290012155. PMID 12002768.  
  • Hart SM, Foroni L (2003). "Core binding factor genes and human leukemia.". Haematologica 87 (12): 1307–23. PMID 12495904.  
  • Asou N (2003). "The role of a Runt domain transcription factor AML1/RUNX1 in leukemogenesis and its clinical implications.". Crit. Rev. Oncol. Hematol. 45 (2): 129–50. doi:10.1016/S1040-8428(02)00003-3. PMID 12604126.  
  • Michaud J, Scott HS, Escher R (2003). "AML1 interconnected pathways of leukemogenesis.". Cancer Invest. 21 (1): 105–36. doi:10.1081/CNV-120018821. PMID 12643014.  
  • Ganly P, Walker LC, Morris CM (2004). "Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia.". Leuk. Lymphoma 45 (1): 1–10. doi:10.1080/1042819031000139611. PMID 15061191.  
  • Yamada R, Tokuhiro S, Chang X, Yamamoto K (2005). "SLC22A4 and RUNX1: identification of RA susceptible genes.". J. Mol. Med. 82 (9): 558–64. doi:10.1007/s00109-004-0547-y. PMID 15184985.  
  • Harada H, Harada Y, Kimura A (2006). "Implications of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome (MDS): future molecular therapeutic directions for MDS.". Current cancer drug targets 6 (6): 553–65. doi:10.2174/156800906778194595. PMID 17017876.  

External links

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