MKL/megakaryoblastic leukemia 1 (also termed MRTFA/myocardin related transcription factor A) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''MKL1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
The protein encoded by this gene is regulated by the actin cytoskeleton and is shuttled between the cytoplasm and the nucleus as a result of actin dynamics. In the nucleus, it coactivates the transcription factor
serum response factor
Serum response factor, also known as SRF, is a transcription factor protein.
Function
Serum response factor is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum ...
, a key regulator of smooth muscle cell differentiation, in an interaction mediated by its Basic domain. It is closely related to
MKL2
MKL/myocardin-like protein 2 is a protein that in humans is encoded by the ''MKL2'' gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' ...
and
myocardin
Myocardin is a protein that in humans is encoded by the ''MYOCD'' gene.
Myocardin is a smooth muscle and cardiac muscle-specific transcriptional coactivator of serum response factor
Serum response factor, also known as SRF, is a transcription ...
, with which it shares five key conserved structural domains.
Clinical significance
This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with
acute megakaryocytic leukemia
Acute may refer to:
Science and technology
* Acute angle
** Acute triangle
** Acute, a leaf shape in the glossary of leaf morphology
* Acute (medicine), a disease that it is of short duration and of recent onset.
** Acute toxicity, the adverse ef ...
.
It also functions in the process of normal megakaryocyte maturation.
Research
Evalarted ''MKL1'' expression is observed in breast cancer and can predict chemosensitivity and patient survival. MKL1 may be a promising biomarker of clinical value for breast cancer.
See also
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Serum response factor
Serum response factor, also known as SRF, is a transcription factor protein.
Function
Serum response factor is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum ...
References
Further reading
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