The Runt domain is an evolutionary conserved
protein domain
In molecular biology, a protein domain is a region of a protein's polypeptide chain that is self-stabilizing and that folds independently from the rest. Each domain forms a compact folded three-dimensional structure. Many proteins consist of ...
.
The
AML1/RUNX1 gene is rearranged by the t(8;21) translocation in acute myeloid leukemia.
The gene is highly similar to the ''
Drosophila melanogaster
''Drosophila melanogaster'' is a species of fly (the taxonomic order Diptera) in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the " vinegar fly" or "pomace fly". Starting with ...
'' 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 (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:
*
RUNX1
Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the ''RUNX1'' gene.
RUNX1 is a transcription factor that re ...
,
RUNX2
Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the ''RUNX2'' gene. RUNX2 is a key transcription factor associated with osteoblast differentia ...
,
RUNX3
Runt-related transcription factor 3 is a protein that in humans is encoded by the ''RUNX3'' gene.
Function
This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subu ...
See also
*
Pair-rule gene
A pair-rule gene is a type of gene involved in the development of the segmented embryos of insects. Pair-rule genes are expressed as a result of differing concentrations of gap gene proteins, which encode transcription factors controlling pair-r ...
- for runt gene in ''Drosophila melanogaster''
References
Protein domains
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