Basic Information

Symbol
RUNX1
RNA class
mRNA
Alias
RUNX Family Transcription Factor 1 Runt-Related Transcription Factor 1 AMLCR1 CBFA2 AML1 Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit SL3/AKV Core-Binding Factor Alpha B Subunit SL3-3 Enhancer Factor 1 Alpha B Subunit Runt Related Transcription Factor 1 Acute Myeloid Leukemia 1 Protein Oncogene AML-1 PEBP2-Alpha B PEA2-Alpha B PEBP2A2 Core-Binding Factor, Runt Domain, Alpha Subunit 2 Core-Binding Factor Subunit Alpha-2 AML1-EVI-1 Fusion Protein Acute Myeloid Leukemia 1 AML1-ETO Fusion Protein AML1-ETO Fusion Aml1 Oncogene Mutant RUNX1 CBF-Alpha-2 AML1-EVI-1 PEBP2alpha CBF2alpha PEBP2aB EVI-1
Location (GRCh38)
21:34787801-36004667
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Wound age identification
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001754.5
Sequence length
5971.0 nt
GC content
0.4619

Transcripts

ID Sequence Length GC content
NM_001001890.3 NCBI
ACUCUCAUUCAUAGAGCCAGCGGGCGCGGGCGGGACGGGCGCCCCGCGG… 7283 nt 0.4712
NM_001122607.2 NCBI
ACUCUCAUUCAUAGAGCCAGCGGGCGCGGGCGGGACGGGCGCCCCGCGG… 2729 nt 0.5222
NM_001754.5 NCBI
ACUUCUUUGGGCCUCAUAAACAACCACAGAACCACAAGUUGGGUAGCCU… 5971 nt 0.4619
Summary

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] CIViC Summary for RUNX1 Gene RUNX1 is a transcription factor that forms a complex with the cofactor CBFB. This complex provides stability to the RUNX1 protein which is involved in the generation of hematopoietic stem cells and for their differentiation into myeloid and lymphoid lines. Loss of RUNX1 function has been shown to impair differentiation between myeloid and lymphoid lines often resulting in the development of leukemia.

Forensic Context

A study in rats demonstrated that transcription factor-based indicator systems, including the RUNX1, are advantageous for wound age estimation in skeletal muscle contusions [Shen et al. DOI:10.1007/s00414-024-03210-6].