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Genetics Home Reference: your guide to understanding genetic conditions
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RUNX1

Reviewed November 2013

What is the official name of the RUNX1 gene?

The official name of this gene is “runt-related transcription factor 1.”

RUNX1 is the gene's official symbol. The RUNX1 gene is also known by other names, listed below.

What is the normal function of the RUNX1 gene?

The RUNX1 gene provides instructions for making a protein called runt-related transcription factor 1 (RUNX1). Like other transcription factors, the RUNX1 protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein interacts with another protein called core binding factor beta or CBFβ (produced from the CBFB gene), which helps RUNX1 bind to DNA and prevents it from being broken down. Together, these proteins form one version of a complex known as core binding factor (CBF). The RUNX1 protein turns on (activates) genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells, early blood cells that have the potential to develop into all types of mature blood cells such as white blood cells, red blood cells, and platelets.

How are changes in the RUNX1 gene related to health conditions?

core binding factor acute myeloid leukemia - increased risk from variations of the RUNX1 gene

A rearrangement (translocation) of genetic material involving the RUNX1 gene is found in approximately 7 percent of individuals with a form of blood cancer known as acute myeloid leukemia (AML). The translocation, written as t(8;21), combines genetic information from chromosome 21 and chromosome 8, fusing the RUNX1 gene on chromosome 21 with a gene on chromosome 8 called RUNX1T1 (also known as ETO). Because this genetic change affects CBF, the condition is classified as core binding factor AML (CBF-AML).

The resulting fusion protein, RUNX1-ETO, is able to form CBF and attach to DNA, like the normal RUNX1 protein; however, instead of turning genes on, it turns them off. This change in gene activity blocks the maturation (differentiation) of blood cells and leads to the production of abnormal, immature white blood cells called myeloid blasts. While t(8;21) is important for leukemia development, a mutation in one or more additional genes is typically needed for the myeloid blasts to develop into cancerous leukemia cells.

other disorders - associated with the RUNX1 gene

Translocations and other types of mutations involving the RUNX1 gene have been associated with different types of leukemia and related blood disorders, including acute lymphoblastic leukemia (ALL), chronic myelomonocytic leukemia (CMML), familial platelet disorder with predisposition to acute myeloid leukemia, and myelodysplastic syndromes (MDS). Depending on the type of mutation, these conditions can be related to impaired regulation of gene activity or loss of normal gene function. The RUNX1 gene mutations associated with these diseases are somatic mutations and are not inherited. They are found only in certain cells of the body.

Where is the RUNX1 gene located?

Cytogenetic Location: 21q22.3

Molecular Location on chromosome 21: base pairs 34,787,800 to 35,049,333

The RUNX1 gene is located on the long (q) arm of chromosome 21 at position 22.3.

The RUNX1 gene is located on the long (q) arm of chromosome 21 at position 22.3.

More precisely, the RUNX1 gene is located from base pair 34,787,800 to base pair 35,049,333 on chromosome 21.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about RUNX1?

You and your healthcare professional may find the following resources about RUNX1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RUNX1 gene or gene products?

  • acute myeloid leukemia 1 protein
  • AML1
  • AMLCR1
  • CBFA2
  • CBF-alpha-2
  • core-binding factor, runt domain, alpha subunit 2
  • oncogene AML-1
  • PEA2-alpha B
  • PEBP2A2
  • PEBP2aB
  • PEBP2-alpha B
  • polyomavirus enhancer-binding protein 2 alpha B subunit
  • RUNX1_HUMAN
  • SL3-3 enhancer factor 1 alpha B subunit
  • SL3/AKV core-binding factor alpha B subunit

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding RUNX1?

acute ; acute lymphoblastic leukemia ; acute myeloid leukemia ; AML ; arthritis ; cancer ; chromosome ; chronic ; chronic myelomonocytic leukemia ; CMML ; differentiation ; DNA ; domain ; enhancer ; familial ; gene ; hematopoietic ; inherited ; leukemia ; mutation ; myeloid ; oncogene ; platelets ; predisposition ; protein ; rearrangement ; stem cells ; subunit ; transcription ; transcription factor ; translocation ; white blood cells

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Goyama S, Mulloy JC. Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects. Int J Hematol. 2011 Aug;94(2):126-33. doi: 10.1007/s12185-011-0858-z. Epub 2011 May 3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21537931?dopt=Abstract)
  • Goyama S, Schibler J, Cunningham L, Zhang Y, Rao Y, Nishimoto N, Nakagawa M, Olsson A, Wunderlich M, Link KA, Mizukawa B, Grimes HL, Kurokawa M, Liu PP, Huang G, Mulloy JC. Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. J Clin Invest. 2013 Sep 3;123(9):3876-88. doi: 10.1172/JCI68557. Epub 2013 Aug 27. Erratum in: J Clin Invest. 2013 Nov 1;123(11):4979. (http://www.ncbi.nlm.nih.gov/pubmed/23979164?dopt=Abstract)
  • Huang G, Shigesada K, Ito K, Wee HJ, Yokomizo T, Ito Y. Dimerization with PEBP2beta protects RUNX1/AML1 from ubiquitin-proteasome-mediated degradation. EMBO J. 2001 Feb 15;20(4):723-33. (http://www.ncbi.nlm.nih.gov/pubmed/11179217?dopt=Abstract)
  • Lam K, Zhang DE. RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis. Front Biosci (Landmark Ed). 2012 Jan 1;17:1120-39. Review. (http://www.ncbi.nlm.nih.gov/pubmed/22201794?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/861)
  • Ran D, Shia WJ, Lo MC, Fan JB, Knorr DA, Ferrell PI, Ye Z, Yan M, Cheng L, Kaufman DS, Zhang DE. RUNX1a enhances hematopoietic lineage commitment from human embryonic stem cells and inducible pluripotent stem cells. Blood. 2013 Apr 11;121(15):2882-90. doi: 10.1182/blood-2012-08-451641. Epub 2013 Jan 31. (http://www.ncbi.nlm.nih.gov/pubmed/23372166?dopt=Abstract)
  • OMIM: RUNT-RELATED TRANSCRIPTION FACTOR 1 (http://omim.org/entry/151385)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2013
Published: November 24, 2014