Identifiers Symbols RUNX1; AML1; AML1-EVI-1; AMLCR1; CBFA2; EVI-1; PEBP2aB External IDs OMIM: 151385 HomoloGene: 1331 ChEMBL: 1615385 GeneCards: RUNX1 Gene

Gene Ontology
Molecular function regulatory region DNA binding
DNA binding
sequence-specific DNA binding transcription factor activity
calcium ion binding
protein binding
ATP binding
transcription factor binding
protein homodimerization activity
protein heterodimerization activity
repressing transcription factor binding
Cellular component basement membrane
intracellular membrane-bounded organelle
Biological process skeletal system development
in utero embryonic development
liver development
myeloid progenitor cell differentiation
transcription, DNA-dependent
central nervous system development
regulation of signal transduction
myeloid cell differentiation
negative regulation of granulocyte differentiation
positive regulation of granulocyte differentiation
hair follicle morphogenesis
embryonic hemopoiesis
positive regulation of angiogenesis
positive regulation of transcription, DNA-dependent
positive regulation of transcription from RNA polymerase II promoter
behavioral response to pain
peripheral nervous system neuron development
definitive hemopoiesis
regulation of hair follicle cell proliferation
hematopoietic stem cell proliferation
positive regulation of progesterone secretion
Sources: Amigo / QuickGO
RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 861 12394 Ensembl ENSG00000159216 ENSMUSG00000022952 UniProt Q01196 Q03347 RefSeq (mRNA) NM_001001890 NM_001111021 RefSeq (protein) NP_001001890 NP_001104491 Location (UCSC) Chr 21:
36.16 – 37.36 Mb Chr 16:
92.6 – 92.83 Mb PubMed search

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 regulates the differentiation of hematopoietic stem cells into mature blood cells. 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.

Read more about RUNX1:  Gene and Protein, Mouse Knockout, Participation in Haematopoiesis, Mutations and Acute Myeloid Leukemia, Interactions, See Also

Other articles related to "runx1":

Aorta-gonad-mesonephros - Haematopoietic Stem Cell Development - Runx1
... RUNX1 (also known as AML1) is a transcription factor that has been heavily implicated in the production and activation of haemogenic endothelial cells in the AGM ... RUNX1 knockout studies have shown a complete removal of definitive haematopoietic activity in all foetal tissues before embryo lethality at E12 ... RUNX1 knockouts also produce morphological changes in the AGM, with excessive crowding of mesenchymal cells ...