MKL1

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Megakaryoblastic leukemia (translocation) 1
Protein MKL1 PDB 2KVU.png
Rendering based on PDB 2KVU.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MKL1 ; BSAC; MAL; MRTF-A
External IDs OMIM606078 MGI2384495 HomoloGene32487 GeneCards: MKL1 Gene
RNA expression pattern
PBB GE MKL1 212748 at tn.png
PBB GE MKL1 215292 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 57591 223701
Ensembl ENSG00000196588 ENSMUSG00000042292
UniProt Q969V6 Q8K4J6
RefSeq (mRNA) NM_001282660 NM_001082536
RefSeq (protein) NP_001269589 NP_001076005
Location (UCSC) Chr 22:
40.81 – 41.03 Mb
Chr 15:
81.01 – 81.19 Mb
PubMed search [1] [2]

MKL/megakaryoblastic leukemia 1 is a protein that in humans is encoded by the MKL1 gene.[1][2][3][4]

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.[4]

References[edit]

  1. ^ Ma Z, Morris SW, Valentine V, Li M, Herbrick JA, Cui X, Bouman D, Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GC, Chan LC, Squire J, Scherer SW, Hitzler JK (Jun 2001). "Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia". Nat Genet 28 (3): 220–1. doi:10.1038/90054. PMID 11431691. 
  2. ^ Sasazuki T, Sawada T, Sakon S, Kitamura T, Kishi T, Okazaki T, Katano M, Tanaka M, Watanabe M, Yagita H, Okumura K, Nakano H (Aug 2002). "Identification of a novel transcriptional activator, BSAC, by a functional cloning to inhibit tumor necrosis factor-induced cell death". J Biol Chem 277 (32): 28853–60. doi:10.1074/jbc.M203190200. PMID 12019265. 
  3. ^ Du KL, Chen M, Li J, Lepore JJ, Mericko P, Parmacek MS (Apr 2004). "Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells". J Biol Chem 279 (17): 17578–86. doi:10.1074/jbc.M400961200. PMID 14970199. 
  4. ^ a b "Entrez Gene: MKL1 megakaryoblastic leukemia (translocation) 1". 

Further reading[edit]