Literature References | 1. MIYOSHI, H., OHIRA, M., SHIMIZU, K., MITANI, K., HIRAI, H., IMAI, T.,
YOKOYAMA, K., SOEDA, E. AND OHKI, M.
Alternative splicing and genomic structure of the AML1 gene involved in
acute myeloid leukemia.
NUCLEIC ACIDS RES. 23 2762-2769 (1995).
2. LEVANON, D., NEGREANU, V., BERNSTEIN, Y., BAR-AM, I., AVIVI, L.
AND GRONER, Y.
AML1, AML2, and AML3, the human members of the runt domain gene-family:
cDNA structure, expression, and chromosomal localization.
GENOMICS 23 425-432 (1994).
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Documentation | The AML1 gene is rearranged by the t(8;21) translocation in acute myeloid
leukemia [1]. The gene is highly similar to the Drosophila segmentation
gene runt and to the mouse transcription factor PEBP2 alpha subunit gene [1].
The region of shared similarity, known as the Runt domain, is responsible
for DNA-binding and protein-protein interaction [1].
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.
ONCOGENEAML1 is a 10-element fingerprint that provides a signature for
acute myeloid leukemia 1 protein (oncogene AML-1). The fingerprint was
derived from an initial alignment of 16 sequences: the motifs were drawn
from conserved regions spanning virtually the full alignment length - motifs
1-6 span the Runt domain, motif 5 encoding a putative ATP-binding site;
and motifs 7-10, which are Ser/Thr/Pro-rich regions, lie towards the
C-terminus. A single iteration on OWL30.2 was required to reach convergence,
no further sequences being identified beyond the starting set. Several
partial matches were found, all of which lie in the Runt domain.
An update on SPTR37_9f identified a true set of 11 sequences, and 10
partial matches.
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Sequence Titles | AML1_HUMAN ACUTE MYELOID LEUKEMIA 1 PROTEIN (ONCOGENE AML-1) (CORE-BINDING FACTOR, ALPHA B SUBUNIT) (CBF-ALPHA B) (POLYOMAVIRUS ENHANCER BINDING PROTEIN 2 ALPHA B SUBUNIT) (PEBP2-ALPHA B) (PEA2-ALPHA B) (SL3-3 ENHANCER FACTOR 1 ALPHA B SUBUNIT) (SL3/AKV CORE-BINDING FACTOR ALPHA B SUBUNIT) - HOMO SAPIENS (HUMAN). AML1_MOUSE ACUTE MYELOID LEUKEMIA 1 PROTEIN (ONCOGENE AML-1) (CORE-BINDING FACTOR, ALPHA B SUBUNIT) (CBF-ALPHA B) (POLYOMAVIRUS ENHANCER BINDING PROTEIN 2 ALPHA B SUBUNIT) (PEBP2-ALPHA B) (PEA2-ALPHA B) (SL3-3 ENHANCER FACTOR 1 ALPHA B SUBUNIT) (SL3/AKV CORE-BINDING FACTOR ALPHA B SUBUNIT) - MUS MUSCULUS (MOUSE). AML1_RAT ACUTE MYELOID LEUKEMIA 1 PROTEIN (ONCOGENE AML-1) (CORE-BINDING FACTOR, ALPHA B SUBUNIT) (CBF-ALPHA B) (POLYOMAVIRUS ENHANCER BINDING PROTEIN 2 ALPHA B SUBUNIT) (PEBP2-ALPHA B) (PEA2-ALPHA B) - RATTUS NORVEGICUS (RAT). O14614 CORE BINDING FACTOR ALPHA1 SUBUNIT - HOMO SAPIENS (HUMAN). O14615 CORE BINDING FACTOR ALPHA1 SUBUNIT - HOMO SAPIENS (HUMAN). O35183 OSF2 (PEBP2ALPHAA MAJOR TIL-1 ISOFORM) - MUS MUSCULUS (MOUSE). O73725 XAML - XENOPUS LAEVIS (AFRICAN CLAWED FROG). Q08775 ACUTE MYELOID LEUKEMIA 3 PROTEIN (CORE-BINDING FACTOR, ALPHA 1 SUBUNIT) (CBF-ALPHA 1) (POLYOMAVIRUS ENHANCER BINDING PROTEIN 2 ALPHA SUBUNIT) (PEBP2-ALPHA) (PEA2-ALPHA) - MUS MUSCULUS (MOUSE). Q13760 RUNT DOMAIN CONTAINING PROTEIN - HOMO SAPIENS (HUMAN). Q13761 RUNT DOMAIN CONTAINING PROTEIN - HOMO SAPIENS (HUMAN). Q90813 CH-RUNTB2 - GALLUS GALLUS (CHICKEN). O76089 AML1 - HOMO SAPIENS (HUMAN). O76296 HERUNT-1 - HELIOCIDARIS ERYTHROGRAMMA (SEA URCHIN). Q24183 LOZENGE - DROSOPHILA MELANOGASTER (FRUIT FLY). Q26628 SPRUNT-1 - STRONGYLOCENTROTUS PURPURATUS (PURPLE SEA URCHIN). O01834 SIMILAR TO DROSOPHILA SEGMENTATION PROTEIN RUNT - CAENORHABDITIS ELEGANS. O76551 RUNT - DROSOPHILA MELANOGASTER (FRUIT FLY). Q24612 RUNT - DROSOPHILA PSEUDOOBSCURA (FRUIT FLY). Q24709 RUNT - DROSOPHILA VIRILIS (FRUIT FLY). RUNT_DROME SEGMENTATION PROTEIN RUNT - DROSOPHILA MELANOGASTER (FRUIT FLY). O08598 CBFA2 PROTEIN - MUS MUSCULUS (MOUSE).
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