Human Gene MKL1 (uc003ayw.1) Description and Page Index
Description: Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. RefSeq Summary (NM_020831): 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr22:40,806,292-41,032,690 Size: 226,399 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr22:40,807,394-40,859,231 Size: 51,838 Coding Exon Count: 12
ID:MKL1_HUMAN DESCRIPTION: RecName: Full=MKL/myocardin-like protein 1; AltName: Full=Megakaryoblastic leukemia 1 protein; AltName: Full=Megakaryocytic acute leukemia protein; AltName: Full=Myocardin-related transcription factor A; Short=MRTF-A; 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). SUBUNIT: Forms with SCAI and SRF a nuclear ternary complex which binds the CArG consensus motif (CArG box) on DNA via SRF. Interacts with ACTB; interaction with ACTB prevents interaction with SCAI. Interacts with MKL2 (By similarity). INTERACTION: P11831:SRF; NbExp=2; IntAct=EBI-493122, EBI-493034; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity). Note=Binding to globular actin is required to maintain cytoplasmic localization (By similarity). TISSUE SPECIFICITY: Ubiquitously expressed, has been detected in lung, placenta, small intestine, liver, kidney, spleen, thymus, colon, muscle, heart and brain. DOMAIN: The N-terminal region is required for nuclear localization and the C-terminal region mediates transcriptional activity (By similarity). DOMAIN: The RPEL repeats mediate binding to globular actin (By similarity). DISEASE: 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. SIMILARITY: Contains 2 RPEL repeats. SIMILARITY: Contains 1 SAP domain. SEQUENCE CAUTION: Sequence=AAK56920.1; Type=Erroneous initiation; Sequence=BAA92676.2; Type=Erroneous initiation; Sequence=CAC38828.1; Type=Erroneous initiation; Sequence=CAC38829.1; Type=Erroneous initiation; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MALID352.html";
Genetic Association Studies of Complex Diseases and Disorders
Body Height Karol Estrada et al. Human molecular genetics 2009, A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation., Human molecular genetics.
height Estrada ,et al. 2009, A genome-wide association study of northwestern Europeans involves the CNP signaling pathway in the etiology of human height variation, Human molecular genetics 2009 18- 18 : 3516-24.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q969V6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0010735 positive regulation of transcription via serum response element binding GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0051145 smooth muscle cell differentiation