RUNX1

RUNX1

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 • nucleus • nucleolus • 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 • hemopoiesis • 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.