MRTFA (myocardin related transcription factor A)
2001-06-01 Jean-Loup Huret AffiliationGenetics, 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
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 11344311 | 2001 | Involvement 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
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37164693 | 2023 | Role of CRP2-MRTF interaction in functions of myofibroblasts. | 2 |
| 37199168 | 2023 | INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10. | 7 |
| 37164693 | 2023 | Role of CRP2-MRTF interaction in functions of myofibroblasts. | 2 |
| 37199168 | 2023 | INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10. | 7 |
| 34761735 | 2022 | The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity. | 1 |
| 35216178 | 2022 | Oxidative Stress Enhances the TGF-β2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition. | 4 |
| 36204878 | 2022 | MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells. | 0 |
| 36601855 | 2022 | SRF/MRTF-A and liver cirrhosis: Pathologic associations. | 1 |
| 34761735 | 2022 | The prognostic value of MKL1 in predicting breast cancer immune infiltrates and chemosensitivity. | 1 |
| 35216178 | 2022 | Oxidative Stress Enhances the TGF-β2-RhoA-MRTF-A/B Axis in Cells Entering Endothelial-Mesenchymal Transition. | 4 |
| 36204878 | 2022 | MBNL1 and MRTF-A form a positive feedback loop in regulating the migration of esophageal cancer cells. | 0 |
| 36601855 | 2022 | SRF/MRTF-A and liver cirrhosis: Pathologic associations. | 1 |
| 33500406 | 2021 | MKL1-induced lncRNA SNHG18 drives the growth and metastasis of non-small cell lung cancer via the miR-211-5p/BRD4 axis. | 20 |
| 33516965 | 2021 | MRTFA overexpression promotes conversion of human coronary artery smooth muscle cells into lipid-laden foam cells. | 2 |
| 33722605 | 2021 | MRTFA: 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/mrtfa-(myocardin-related-transcription-factor-a)
