Runt domain

Last updated
Runt domain
Identifiers
SymbolRunt
Pfam PF00853
InterPro IPR013524
SCOP2 1cmo / SCOPe / SUPFAM
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary
PDB 1eaq A:48-182 1hjb C:60-182 1hjc D:60-182

1io4 C:60-182 1eao A:48-182 1ean A:48-182 1e50 E:50-182 1co1 A:61-175 1h9d C:50-182

Contents

1ljm B:51-181 1cmo A:52-178

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, commonly referred to as RUNX1 (also known as acute myeloid leukemia 1 protein, AML-1, or the core-binding factor alpha-B subunit) binds to the core site, 5'-pygpyggt-3', of a number of enhancers and promoters.

The functional protein forms a heterodimer composed of an alpha and a beta subunit. The alpha subunit can bind DNA on its own and plays an essential role in the development of normal hematopoiesis (blood cell formation). 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 with a Runt domain include:

See also

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   307102 . PMID   7651838.
This article incorporates text from the public domain Pfam and InterPro: IPR013524