Homo sapiens Protein: MKL1 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-293356.5 | ||||||||||||||||||||||
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 | ENSP00000385835 | ||||||||||||||||||||||
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.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
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_001269589 | ||||||||||||||||||||||
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 | ||||||||||||||||||||||