Version 5.4
Homo sapiens Gene: MKL1
Summary
InnateDB Gene IDBG-8802.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MKL1
Gene Name megakaryoblastic leukemia (translocation) 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000196588
Encoded Proteins
IDBP-8804
megakaryoblastic leukemia (translocation) 1
IDBP-237117
megakaryoblastic leukemia (translocation) 1
IDBP-293358
megakaryoblastic leukemia (translocation) 1
IDBP-293356
megakaryoblastic leukemia (translocation) 1
IDBP-293355
megakaryoblastic leukemia (translocation) 1
IDBP-377678
megakaryoblastic leukemia (translocation) 1
IDBP-808541
megakaryoblastic leukemia (translocation) 1
IDBP-808542
megakaryoblastic leukemia (translocation) 1
IDBP-808543
megakaryoblastic leukemia (translocation) 1
IDBP-808546
megakaryoblastic leukemia (translocation) 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:40410281-40636702
Strand Reverse strand
Band q13.2
Transcripts
ENST00000355630 ENSP00000347847
ENST00000396617 ENSP00000379861
ENST00000402042 ENSP00000385584
ENST00000407029 ENSP00000385835
ENST00000402630 ENSP00000385076
ENST00000422851 ENSP00000398478
ENST00000477468
ENST00000463769
ENST00000466278
ENST00000614754 ENSP00000484786
ENST00000618196 ENSP00000479510
ENST00000620651 ENSP00000478420
ENST00000618417 ENSP00000484628
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:0003676 nucleic acid 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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042292
View Gene Order
ENSBTAG00000002630
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
rhoa_pathway
RhoA signaling pathway
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654688 Hs.668708
RefSeq NM_001282660 NM_001282661 NM_001282662 NM_020831 XM_005261691 XM_005261692 XM_005261694
HUGO
OMIM
CCDS CCDS14003 CCDS74865 CCDS74866
HPRD 10445
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca