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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
General
human longevity protein
phosphoprotein
transcription factor (TF)
Properties
SIZE: entity length = 931 aa
MW = 99 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: SCAI/ACTB interaction {1-256}
MOTIF: breakpoint {3-4}
Ser phosphorylation site {S6}
RPEL {24-49}
RPEL {68-93}
glutamine-rich region {264-286}
MOTIF: glutamine residue (SEVERAL)
Thr phosphorylation site {T305}
SAP {347-381}
Thr phosphorylation site {T450}
Ser phosphorylation site {S454}
coiled coil {515-563}
proline-rich region
SITE: 564-811
MOTIF: proline residue (SEVERAL)
Database Correlations
OMIM 606078
UniProt Q969V6
PFAM correlations
Entrez Gene 57591
Kegg hsa:57591
References
- UniProt :accession Q969V6
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/MALID352.html
- UniProt Pubmed refs
- PMID: 24440334