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
MRTFA
LOCATION
22q13.1
LOCUSID
57591
ALIAS
BSAC,MAL,MKL,MKL1,MRTF-A
FUSION GENES
Show Gene Fusions

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

Article 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
371646932023Role of CRP2-MRTF interaction in functions of myofibroblasts.2
371991682023INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10.7
371646932023Role of CRP2-MRTF interaction in functions of myofibroblasts.2
371991682023INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10.7
347617352022The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity.1
352161782022Oxidative Stress Enhances the TGF-β2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition.4
362048782022MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.0
366018552022SRF/MRTF-A and liver cirrhosis: Pathologic associations.1
347617352022The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity.1
352161782022Oxidative Stress Enhances the TGF-β2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition.4
362048782022MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells.0
366018552022SRF/MRTF-A and liver cirrhosis: Pathologic associations.1
335004062021MKL1-induced lncRNA SNHG18 drives the growth and metastasis of non-small cell lung cancer via the miR-211-5p/BRD4 axis.20
335169652021MRTFA overexpression promotes conversion of human coronary artery smooth muscle cells into lipid-laden foam cells.2
337226052021MRTFA: A critical protein in normal and malignant hematopoiesis and beyond.11

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/js/img/favicon/favicon-32x32.png