MRTFA (myocardin related transcription factor A)

2001-06-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
22q13.1
LOCUSID
ALIAS
BSAC,MAL,MKL,MKL1,MRTF-A
FUSION GENES

DNA/RNA

Description

15 exons spanning 226 kb, with 3 non coding exons in 5; 2 putative promoters

Transcription

transcription of 4.5 and 4 kb RNA

Proteins

Description

931 amino acids; contains in the NH2-term a SAF (scaffold attachment factor) box; SAF box bind the DNA minor grove; supposed to attach DNA to nuclear scaffold

Expression

wide

Function

may have a role in chromatin organization

Implicated in

Entity name
t(1;22)(p13;q13) / acute megakaryocytic leukaemia (M7 AML) --> OTT -MAL
Disease
acute megakaryocytic leukaemia found in infants
Prognosis
complete remission in only 50% of cases; median survival: 8 months
Cytogenetics
60% of cases have the t(1;22) as a single anomaly; the remaining cases exhibit complex and hyperploid clones
Hybrid gene
5 OTT - 3 MAL, comprisng most of OTT fused to most of MAL; the reciprocal 5 MAL - 3 OTT may or may not be present
Fusion protein
includes most of OTT with the RNA recognition motifs and the SPOC domain in N-term, and most of MAL, with the scaffold attachment factor box in C-term
Oncogenesis
may play a role in chromatin organization, HOX differentiation pathways, or extracellular signaling

Bibliography

Pubmed IDLast YearTitleAuthors
113443112001Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.Mercher T et al

Other Information

Locus ID:

NCBI: 57591
MIM: 606078
HGNC: 14334
Ensembl: ENSG00000196588

Variants:

dbSNP: 57591
ClinVar: 57591
TCGA: ENSG00000196588
COSMIC: MRTFA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196588ENST00000355630A0A499FIJ6
ENSG00000196588ENST00000396617E7ER32
ENSG00000196588ENST00000402042B0QY83
ENSG00000196588ENST00000402630B0QY84
ENSG00000196588ENST00000407029Q969V6
ENSG00000196588ENST00000422851B0QY74
ENSG00000196588ENST00000463769A0A494C0Z8
ENSG00000196588ENST00000614754A0A087X287
ENSG00000196588ENST00000618417Q29R68
ENSG00000196588ENST00000620651A0A087WU73
ENSG00000196588ENST00000651595A0A494BZX7
ENSG00000196588ENST00000651694A0A494C1G6
ENSG00000196588ENST00000652095W0Z7M9

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220

References

Pubmed IDYearTitleCitations
191986012009Myocardin-related transcription factors and SRF are required for cytoskeletal dynamics and experimental metastasis.162
129444852003Megakaryoblastic leukemia 1, a potent transcriptional coactivator for serum response factor (SRF), is required for serum induction of SRF target genes.119
180564152007Dual roles of myocardin-related transcription factors in epithelial mesenchymal transition via slug induction and actin remodeling.99
179472372007Control of phenotypic plasticity of smooth muscle cells by bone morphogenetic protein signaling through the myocardin-related transcription factors.72
149701992004Megakaryoblastic leukemia factor-1 transduces cytoskeletal signals and induces smooth muscle cell differentiation from undifferentiated embryonic stem cells.67
153291552004Expression profiling of serum inducible genes identifies a subset of SRF target genes that are MKL dependent.61
256817332015Inhibition of myocardin-related transcription factor/serum response factor signaling decreases lung fibrosis and promotes mesenchymal cell apoptosis.61
145659522003Megakaryoblastic leukemia-1/2, a transcriptional co-activator of serum response factor, is required for skeletal myogenic differentiation.57
230623342012Mechanical activation of cells induces chromatin remodeling preceding MKL nuclear transport.57
186949622008Serum-induced phosphorylation of the serum response factor coactivator MKL1 by the extracellular signal-regulated kinase 1/2 pathway inhibits its nuclear localization.48

Citation

Jean-Loup Huret

MRTFA (myocardin related transcription factor A)

Atlas Genet Cytogenet Oncol Haematol. 2001-06-01

Online version: http://atlasgeneticsoncology.org/gene/352/mrtfa