Runt domain

Runt domain
Identifiers
Symbol Runt
Pfam PF00853
InterPro IPR013524
SCOP 1cmo
SUPERFAMILY 1cmo

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.

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

Human genes encoding proteins containing this domain include:

References

  1. ↑ 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.
  2. 1 2 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 307102Freely accessible. PMID 7651838.

This article incorporates text from the public domain Pfam and InterPro IPR013524


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