Homo sapiens Protein: MKL1
Summary
InnateDB Protein IDBP-8804.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKL1
Protein Name megakaryoblastic leukemia (translocation) 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000347847
InnateDB Gene IDBG-8802 (MKL1)
Protein Structure
UniProt Annotation
Function Transcriptional coactivator of serum response factor (SRF) with the potential to modulate SRF target genes. Suppresses TNF-induced cell death by inhibiting activation of caspases; its transcriptional activity is indispensable for the antiapoptotic function. It may up-regulate antiapoptotic molecules, which in turn inhibit caspase activation (By similarity). {ECO:0000250}.
Subcellular Localization Nucleus {ECO:0000269PubMed:19350017, ECO:0000269PubMed:24440334}. Cytoplasm {ECO:0000250}. Note=Binding to globular actin is required to maintain cytoplasmic localization. Nuclear localization is regulated by MICAL2, which mediates depolymerization of nuclear globular actin, promoting retention of MKL1 in the nucleus and subsequent formation of an active complex with SRF (PubMed:24440334). {ECO:0000269PubMed:24440334}.
Disease Associations Note=A chromosomal aberration involving MKL1 may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with RBM15. Although 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 and is the candidate oncogene.
Tissue Specificity Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 15 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003713 transcription coactivator activity
GO:0003779 actin binding
GO:0003785 actin monomer binding
GO:0005515 protein binding
GO:0043522 leucine zipper domain binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0010735 positive regulation of transcription via serum response element binding
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051145 smooth muscle cell differentiation
GO:2001234 negative regulation of apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR003034 SAP domain
IPR004018 RPEL repeat
PFAM PF02037
PF02755
PRINTS
PIRSF
SMART SM00513
SM00707
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q969V6
PhosphoSite PhosphoSite-Q969V6
TrEMBL Q29R68
UniProt Splice Variant
Entrez Gene 57591
UniGene Hs.668708
RefSeq NP_065882
HUGO HGNC:14334
OMIM 606078
CCDS CCDS14003
HPRD 10445
IMGT
EMBL AB037859 AF364035 AF368061 AJ297257 AJ297258 AJ303089 AJ303090 AL022238 AL713710 BC114364 CR456522
GenPept AAI14365 AAK54721 AAK56920 BAA92676 CAC38826 CAC38827 CAC38828 CAC38829 CAD28507 CAG30408 CAI18985