MKL/myocardin-like protein 1; megakaryoblastic leukemia 1 protein; megakaryocytic acute leukemia protein; myocardin-related transcription factor A; MRTF-A (MKL1, KIAA1438, MAL)

Function

• transcriptional factor which uses the canonical single or multiple CArG boxes DNA sequence
• cofactor of serum response factor (SRF), has the potential to modulate SRF-target genes
  • forms with SCAI & SRF a nuclear ternary complex which binds the CArG consensus motif (CArG box) on DNA via SRF

suppresses TNF-induced cell death by inhibiting activation of caspases

• transcriptional activity is indispensable for antiapoptotic function
• up-regulates antiapoptotic molecules, which in turn inhibit caspase activation
• interacts with ACTB
  • interaction with ACTB prevents interaction with SCAI
• interacts with MKL2

Structure

• N-terminal region is required for nuclear localization
• C-terminal region mediates transcriptional activity
• contains 2 RPEL repeats contains 1 SAP domain.

Compartment

• cytoplasm (putative), nucleus
• binding to globular actin is required to maintain cytoplasmic localization (putative)

Expression

• ubiquitously expressed
• expressed in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart, brain

Pathology

• chromosomal translocation t(1;22)(p13;q13) involving MKL1 with RBM15 may be a cause of acute megakaryoblastic leukemia
• both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7)
• the RBM15-MKL1 chimeric protein has all the putative functional domains encoded by each gene & is the candidate oncoprotein

More general terms

• transcription factor (TF)
• phosphoprotein
• human longevity protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=57591
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:57591
• OMIM: https://mirror.omim.org/entry/606078
• UniProt: http://www.uniprot.org/uniprot/Q969V6.html