AlphaFold predicted structure
RUNX1 · Q01196
Mean pLDDT
61.0/ 100
Low
453 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)8%
- Low(50–70)12%
- Very low(< 50)55%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
RUNX1
Chr 21q22.12RUNX family transcription factor 1
- Aliases:
- PEBP2A2, AMLCR1
- MANE:
- ENST00000675419.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHaematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHaematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited bleeding disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownInherited predisposition to acute myeloid leukaemia (AML)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
0.81acute myeloid leukemia
0.75hereditary thrombocytopenia and hematologic cancer predisposition syndrome
0.72Thrombocytopenia
0.66hereditary disease
0.54asthma
0.54Abnormal bleeding
0.51androgenetic alopecia
0.50rheumatoid arthritis
0.48myeloproliferative disorder
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Runt-related transcription factor 1
Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity)
Diseases associated with RUNX1
Curated MONDO disease pages that list RUNX1 among their top associated genes.