MKL1

MKL/megakaryoblastic leukemia 1 (also termed MRTFA/myocardin related transcription factor A) is a protein that in humans is encoded by the MKL1 gene.^[5][6][7][8]

MRTFA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KVU, 2KW9
Identifiers
Aliases	MRTFA, BSAC, MAL, MRTF-A, megakaryoblastic leukemia (translocation) 1, MKL, MKL1, myocardin related transcription factor A
External IDs	OMIM: 606078; MGI: 2384495; HomoloGene: 32487; GeneCards: MRTFA; OMA:MRTFA - orthologs
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q13.1-q13.2 Start 40,410,281 bp[1] End 40,636,719 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E1 Start 80,896,482 bp[2] End 81,074,958 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte popliteal artery tibial arteries right testis bone marrow cells left testis body of uterus blood stromal cell of endometrium Top expressed in granulocyte layer of dentate gyrus granular layer of dentate gyrus olfactory tubercle pyramidal layer of hippocampus mesenteric lymph nodes Ileal epithelium dentate gyrus of hippocampal formation granule cell CA3 field blood More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transcription coactivator activity actin monomer binding leucine zipper domain binding protein binding actin binding Cellular component cytoplasm nucleoplasm nucleus cytosol Biological process regulation of transcription, DNA-templated smooth muscle cell differentiation transcription, DNA-templated positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II actin cytoskeleton organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57591 223701 Ensembl ENSG00000196588 ENSMUSG00000042292 UniProt Q969V6 Q8K4J6 RefSeq (mRNA) NM_001282660 NM_001282661 NM_001282662 NM_020831 NM_001318139 NM_001082536 NM_153049 RefSeq (protein) NP_001269589 NP_001269590 NP_001269591 NP_001305068 NP_065882 NP_001076005 NP_694629 Location (UCSC) Chr 22: 40.41 – 40.64 Mb Chr 15: 80.9 – 81.07 Mb PubMed search [3] [4]
Wikidata
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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.^[9] In the nucleus, it coactivates the transcription factor serum response factor,^[10] a key regulator of smooth muscle cell differentiation, in an interaction mediated by its Basic domain. It is closely related to MKL2 and myocardin, with which it shares five key conserved structural domains.^[11]

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.^[8] It also functions in the process of normal megakaryocyte maturation.^[12]

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.^[13]

See also

• Serum response factor