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Protein: RUNX1_MOUSE

Runt-related transcription factor 1

FUNCTION: CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. Essential for the development of normal hematopoiesis. Isoform 4 shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits MYST4- dependent transcriptional activation (By similarity). more...

SUBUNIT: Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with TLE1 and THOC4. Interacts with HIPK2, ELF1, ELF2 and SPI1. Interacts via its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation. Interacts with MYST3 and MYST4. Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1 (By similarity). Interacts with YAP1 (By similarity).

SUBCELLULAR LOCATION: Nucleus.

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=AML1-B, PEB2-alpha B1; IsoId=Q03347-1; Sequence=Displayed; Name=2; Synonyms=PEB2-alpha B2; IsoId=Q03347-2; Sequence=VSP_005932, VSP_005933; Name=3; IsoId=Q03347-3; Sequence=VSP_005931, VSP_005934; Name=4; Synonyms=AML1-C; IsoId=Q03347-4; Sequence=VSP_005930; Name=5; IsoId=Q03347-5; Sequence=VSP_005935, VSP_005936;

TISSUE SPECIFICITY: Isoform 4 is expressed at high levels in thymus, spleen and T-cell lines and at lower levels in myeloid cell lines and nonhematopoietic cells. Isoform 5 is expressed ubiquitously in lumbar vertebrae, brain, kidney, heart, muscle, ovary and osteoblast-like cell line MC3T3E1. DEVELOPMENTAL STAGE: Differentially expressed during hematopoietic differentiation. Isoform AML1-B is readily detectable in undifferentiated embryonic stem (es) cells and peak expression is seen on day 6 of differentiation, followed by a gradual decline thereafter. Isoform AML1-C is undetectable in undifferentiated es cells, but is gradually up-regulated along with differentiation and reaches its highest levels on day 8 and this expression is maintained through day 12. Isoform 5 is expressed at high levels at 6-8 dpc and then levels decrease on 12 dpc. Isoform 4 expression is high throughout T-cell development, declines with natural killer cell maturation, and appears to be transiently reduced and then restored during B-cell development.

DOMAIN: A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes.

PTM: Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with MYST3 (By similarity).

PTM: Methylated (By similarity).

PTM: Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes subsequent EP300 phosphorylation.

DISEASE: Note=Mice with an Runx1 lacking the DNA-binding region are found to die between embryonic days 11.5 to 12.5 due to hemorrhaging in the central nervous system. This hemorrhaging is preceded by necrosis and hematopoiesis is blocked.

SIMILARITY: Contains 1 Runt domain.

GENE SYNONYMS: Aml1 Cbfa2 Pebp2ab.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Mus musculus

Gene Symbol:

  • Runx1

Synonyms:

  • SL3-3 enhancer factor 1 alpha B subunit
  • PEA2-alpha B
  • Polyomavirus enhancer-binding protein 2 alpha B subunit
  • CBF-alpha-2
  • Core-binding factor subunit alpha-2
  • SL3/AKV core-binding factor alpha B subunit
  • Acute myeloid leukemia 1 protein
  • Oncogene AML-1
  • PEBP2-alpha B

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