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GeneQ15320451· pop 7· linked from 956 articles

RUNX1

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Also known as AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha

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.

Gene data

RUNX1
Name
RUNX family transcription factor 1
Type
protein-coding
Position
34,787,801–36,004,667 (−)
Aliases
AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
Ensembl
ENSG00000159216
RefSeq RNA
NM_001001890.3, NM_001122607.2, NM_001754.5, XM_005261068.4, XM_005261069.5
RefSeq protein
NP_001001890.1, NP_001116079.1, NP_001745.2, XP_005261125.1, XP_005261126.1

Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Gene Ontology

Pathways

Tight junction - Homo sapiens (human)Th17 cell differentiation - Homo sapiens (human)Pathways in cancer - Homo sapiens (human)Transcriptional misregulation in cancer - Homo sapiens (human)Chronic myeloid leukemia - Homo sapiens (human)Acute myeloid leukemia - Homo sapiens (human)Developmental BiologySignaling by NOTCHSignal TransductionDisease

via MyGene.info

Gene · Ensembl

RUNX family transcription factor 1

Symbol
RUNX1
Biotype
Protein coding
Organism
Homo sapiens
Location
21:34,787,801-36,004,667
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of
gene
Image
PDB 1cmo EBI.jpg
Show 8 more facts
HomoloGene ID
1331
genetic association
acute myeloid leukemia
found in taxon
Homo sapiens
exact match
identifiers.org/ncbigene/861
genomic end
37376965
genomic start
36160098
chromosome
human chromosome 21
cytogenetic location
21q22.12
Sources (6)

via Wikidata · CC0

~11 min read

Encyclopedic overview

14 sections
Contents
  • Gene and protein
  • Discovery and characterization of RUNX1
  • Mouse knockout
  • Participation in haematopoiesis
  • Mutations and acute myeloid leukemia
  • Role in T-cell acute lymphoblastic leukemia (T-ALL)
  • Participation in hair follicle development
  • RUNX1 in Pancreatic Cancer
  • Interactions
  • Inhibitors
  • See also
  • References
  • Further reading
  • External links

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.

Excerpted from Wikipedia’s “RUNX1” article, available under the CC BY-SA 4.0 licence.

Available in 7 languages

via Wikidata sitelinks · CC0