RUNX1

RUNX1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1CMO, 1CO1, 1E50, 1H9D, 1LJM
Identifiers
Aliases	RUNX1, AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha, runt related transcription factor 1, RUNX family transcription factor 1
External IDs	OMIM: 151385; MGI: 99852; HomoloGene: 1331; GeneCards: RUNX1; OMA:RUNX1 - orthologs
Gene location (Human)
Chr.	Chromosome 21 (human)
End	36,004,667 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	92,623,037 bp
RNA expression pattern
	Top expressed in
	olfactory zone of nasal mucosa; ; epithelium of bronchus; ; mucosa of paranasal sinus; ; bronchial epithelial cell; ; nasal epithelium; ; visceral pleura; ; tendon of biceps brachii; ; trabecular bone; ; epithelium of nasopharynx; ; minor salivary glands;
	Top expressed in
	lumbar spinal ganglion; ; Dermatocranium; ; membranous bone; ; decidua; ; lower jaw; ; granulocyte; ; maxilla; ; mandible; ; gastrula; ; cumulus cell;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; calcium ion binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; protein homodimerization activity; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; protein binding; protein heterodimerization activity; ATP binding; DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding;
Cellular component	intracellular membrane-bounded organelle; nucleus; cytosol; nucleoplasm; core-binding factor complex;
Biological process	peripheral nervous system neuron development; myeloid cell differentiation; regulation of transcription, DNA-templated; chondrocyte differentiation; ossification; negative regulation of granulocyte differentiation; hematopoietic stem cell proliferation; transcription, DNA-templated; positive regulation of angiogenesis; positive regulation of transcription, DNA-templated; positive regulation of interleukin-2 production; positive regulation of granulocyte differentiation; positive regulation of transcription by RNA polymerase II; transcription by RNA polymerase II; regulation of cytokine-mediated signaling pathway; regulation of Wnt signaling pathway; regulation of intracellular estrogen receptor signaling pathway; regulation of regulatory T cell differentiation; regulation of keratinocyte differentiation; regulation of myeloid cell differentiation; regulation of megakaryocyte differentiation; regulation of B cell receptor signaling pathway; regulation of hematopoietic stem cell differentiation; regulation of bicellular tight junction assembly; hemopoiesis; negative regulation of transcription by RNA polymerase II; negative regulation of CD4-positive, alpha-beta T cell differentiation; positive regulation of CD8-positive, alpha-beta T cell differentiation; negative regulation of gene expression; neuron differentiation;
	Sources:Amigo / QuickGO
Orthologs
	861
	12394
	ENSG00000159216
	ENSMUSG00000022952
	Q01196
	Q03347
	NM_001001890; NM_001122607; NM_001754
	NM_001111021; NM_001111022; NM_001111023; NM_009821
	NP_001001890; NP_001116079; NP_001745
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) and it is a protein that is encoded by the RUNX1 gene, in humans.

RUNX1 is a transcription factor that regulates the differentiation of hematopoietic stem cells into mature blood cells. In addition it plays a major role in the development of the neurons that transmit pain. It belongs to the Runt-related transcription factor (RUNX) family of genes which are also called core binding factor-α (CBFα). RUNX proteins form a heterodimeric complex with CBFβ which confers increased DNA binding and stability to the complex.

Chromosomal translocations involving the RUNX1 gene are associated with several types of leukemia including M2 AML. Mutations in RUNX1 are implicated in cases of breast cancer.