The Runt domain is an evolutionary conserved protein domain.[1] The AML1/RUNX1 gene is rearranged by the t(8;21) translocation in acute myeloid leukemia.[2] The gene is highly similar to the Drosophila melanogaster segmentation gene runt and to the mouse transcription factor PEBP2 alpha subunit gene.[2] The region of shared similarity, known as the Runt domain, is responsible for DNA-binding and protein-protein interaction.
| Runt domain | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbol | Runt | ||||||||||
| Pfam | PF00853 | ||||||||||
| InterPro | IPR013524 | ||||||||||
| SCOP2 | 1cmo / SCOPe / SUPFAM | ||||||||||
| |||||||||||
In addition to the highly conserved Runt domain, the AML-1 gene product carries a putative ATP-binding site (GRSGRGKS), and has a C-terminal region rich in proline and serine residues. The protein (known as acute myeloid leukemia 1 protein, oncogene AML-1, core-binding factor (CBF), alpha-B subunit, etc.) binds to the core site, 5'-pygpyggt-3', of a number of enhancers and promoters.
The protein is a heterodimer of alpha- and beta-subunits. The alpha-subunit binds DNA as a monomer, and appears to have a role in the development of normal hematopoiesis. CBF is a nuclear protein expressed in numerous tissue types, except brain and heart; highest levels have been found to occur in thymus, bone marrow and peripheral blood.
This domain occurs towards the N-terminus of the proteins in this entry.
Examples
editHuman genes encoding proteins containing this domain include:
See also
edit- Pair-rule gene - for runt gene in Drosophila melanogaster
References
edit- ^ Kagoshima H, Shigesada K, Satake M, Ito Y, Miyoshi H, Ohki M, Pepling M, Gergen P (October 1993). "The Runt domain identifies a new family of heteromeric transcriptional regulators". Trends Genet. 9 (10): 338–41. doi:10.1016/0168-9525(93)90026-E. PMID 8273148.
- ^ a b Hirai H, Shimizu K, Miyoshi H, Ohira M, Mitani K, Imai T, Yokoyama K, Soeda E, Ohki M (1995). "Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia". Nucleic Acids Res. 23 (14): 2762–2769. doi:10.1093/nar/23.14.2762. PMC 307102. PMID 7651838.
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