Runt domain
{{Short description|Evolutionary conserved protein domain}}
{{Pfam_box
| Symbol = Runt
| Name = Runt domain
| image =
| width =
| caption =
| Pfam= PF00853
| InterPro= IPR013524
| SMART=
| Prosite =
| SCOP = 1cmo
| TCDB =
| OPM family=
| OPM protein=
| PDB=
{{PDB3|1eaq}}A:48-182 {{PDB3|1hjb}}C:60-182 {{PDB3|1hjc}}D:60-182
{{PDB3|1io4}}C:60-182 {{PDB3|1eao}}A:48-182 {{PDB3|1ean}}A:48-182
{{PDB3|1e50}}E:50-182 {{PDB3|1co1}}A:61-175 {{PDB3|1h9d}}C:50-182
{{PDB3|1ljm}}B:51-181 {{PDB3|1cmo}}A:52-178
}}
The Runt domain is an evolutionary conserved protein domain.{{cite journal |vauthors=Kagoshima H, Shigesada K, Satake M, Ito Y, Miyoshi H, Ohki M, Pepling M, Gergen P | title = The Runt domain identifies a new family of heteromeric transcriptional regulators | journal = Trends Genet. | volume = 9 | issue = 10 | pages = 338–41 |date=October 1993 | pmid = 8273148 | doi = 10.1016/0168-9525(93)90026-E}} The AML1/RUNX1 gene is rearranged by the t(8;21) translocation in acute myeloid leukemia.{{cite journal |vauthors=Hirai H, Shimizu K, Miyoshi H, Ohira M, Mitani K, Imai T, Yokoyama K, Soeda E, Ohki M |title=Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia |journal=Nucleic Acids Res. |volume=23 |issue=14 |pages=2762–2769 |year=1995 |pmid=7651838 |doi=10.1093/nar/23.14.2762 |pmc=307102}} The gene is highly similar to the Drosophila melanogaster segmentation gene runt and to the mouse transcription factor PEBP2 alpha subunit gene. 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
See also
- Pair-rule gene - for runt gene in Drosophila melanogaster
References
{{reflist}}
{{InterPro content|IPR013524}}
{{DEFAULTSORT:Runt Domain}}
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