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MRTFA (myocardin related transcription factor A)

Written2001-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMKL1
megakaryoblastic leukemia (translocation) 1
Alias_symbol (synonym)KIAA1438
MAL
MRTF-A
BSAC
MKL
Other aliasMKL1 (megakaryoblastic leukemia (translocation) 1)
MAL (megakaryocytic acute leukaemia)
HGNC (Hugo) MRTFA
LocusID (NCBI) 57591
Atlas_Id 352
Location 22q13.1  [Link to chromosome band 22q13]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MKL1 (22q13.1) / APOL4 (22q12.3)MKL1 (22q13.1) / ARAP1 (11q13.4)MKL1 (22q13.1) / CD9 (12p13.31)
MKL1 (22q13.1) / MKL1 (22q13.1)MKL1 (22q13.1) / NTNG1 (1p13.3)MKL1 (22q13.1) / PBX1 (1q23.3)
MKL1 (22q13.1) / RBM15 (1p13.3)MKL1 (22q13.1) / SCGB1C1 (11p15.5)MKL1 (22q13.1) / SLC25A17 (22q13.2)
MKL1 (22q13.1) / SPIDR (8q11.21)RBM15 (1p13.3) / MKL1 (22q13.1)STK3 (8q22.2) / MKL1 (22q13.1)
TCF20 (22q13.2) / MKL1 (22q13.1)
Note MRTFA is the last official symbol after MAL and MKL1 previously defined at this locus.

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

Protein

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

Note
  
Entity 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/Mutated 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
Abnormal 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

Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia.
Mercher T, Coniat MB, Monni R, Mauchauffe M, Nguyen Khac F, Gressin L, Mugneret F, Leblanc T, Dastugue N, Berger R, Bernard OA
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (10) : 5776-5779.
PMID 11344311
 

Citation

This paper should be referenced as such :
Huret, JL
MKL1 (megakaryoblastic leukemia (translocation) 1)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):188-188.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MALID352.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Acute megakaryoblastic leukemia (AMegL)::M7 acute myeloid leukemia (M7-AML)


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  t(1;22)(p13;q13) MKL1/NTNG1
t(8;22)(q11;q13) MKL1/SPIDR
t(11;22)(p15;q13) MKL1/SCGB1C1
t(11;22)(q13;q13) MKL1/ARAP1
t(22;22)(q12;q13) MKL1/APOL4
MKL1/SLC25A17 (22q13)
MKL1/SLC25A17 (22q13)
TCF20/MKL1 (22q13)


External links

Nomenclature
HGNC (Hugo)MRTFA   14334
Cards
AtlasMALID352
Entrez_Gene (NCBI)MRTFA  57591  myocardin related transcription factor A
AliasesBSAC; MAL; MKL; MKL1; 
MRTF-A
GeneCards (Weizmann)MRTFA
Ensembl hg19 (Hinxton)ENSG00000196588 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196588 [Gene_View]  ENSG00000196588 [Sequence]  - [Contig_View]  MRTFA [Vega]
ICGC DataPortalENSG00000196588
TCGA cBioPortalMRTFA
AceView (NCBI)MRTFA
Genatlas (Paris)MRTFA
WikiGenes57591
SOURCE (Princeton)MRTFA
Genetics Home Reference (NIH)MRTFA
Genomic and cartography
GoldenPath hg38 (UCSC)MRTFA  -  
GoldenPath hg19 (UCSC)MRTFA  -  
GoldenPathMRTFA - [CytoView hg19]  MRTFA - [CytoView hg38]
ImmunoBaseENSG00000196588
Mapping of homologs : NCBIMRTFA [Mapview hg19]  MRTFA [Mapview hg38]
OMIM606078   
Gene and transcription
Genbank (Entrez)AB037859 AF368061 AF448806 AJ297257 AJ297258
RefSeq transcript (Entrez)NM_001282660 NM_001282661 NM_001282662 NM_001318139 NM_020831
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRTFA
Cluster EST : UnigeneHs.654688 [ NCBI ]
CGAP (NCI)Hs.654688
Alternative Splicing GalleryENSG00000196588
Gene ExpressionMRTFA [ NCBI-GEO ]   MRTFA [ EBI - ARRAY_EXPRESS ]   MRTFA [ SEEK ]   MRTFA [ MEM ]
Gene Expression Viewer (FireBrowse)MRTFA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57591
GTEX Portal (Tissue expression)MRTFA
Human Protein AtlasENSG00000196588-MRTFA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969V6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969V6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969V6
Splice isoforms : SwissVarQ969V6
PhosPhoSitePlusQ969V6
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)    SAP (PS50800)   
Domains : Interpro (EBI)MRTF-A    RPEL_repeat    SAP_dom    SAP_dom_sf   
Domain families : Pfam (Sanger)RPEL (PF02755)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam02755    pfam02037   
Domain families : Smart (EMBL)RPEL (SM00707)  SAP (SM00513)  
Conserved Domain (NCBI)MRTFA
DMDM Disease mutations57591
Blocks (Seattle)MRTFA
PDB (RSDB)2KVU    2KW9   
PDB Europe2KVU    2KW9   
PDB (PDBSum)2KVU    2KW9   
PDB (IMB)2KVU    2KW9   
Structural Biology KnowledgeBase2KVU    2KW9   
SCOP (Structural Classification of Proteins)2KVU    2KW9   
CATH (Classification of proteins structures)2KVU    2KW9   
SuperfamilyQ969V6
Human Protein Atlas [tissue]ENSG00000196588-MRTFA [tissue]
Peptide AtlasQ969V6
IPIIPI00872937   IPI00163729   IPI00941152   IPI00879763   IPI00879645   
Protein Interaction databases
DIP (DOE-UCLA)Q969V6
IntAct (EBI)Q969V6
FunCoupENSG00000196588
BioGRIDMRTFA
STRING (EMBL)MRTFA
ZODIACMRTFA
Ontologies - Pathways
QuickGOQ969V6
Ontology : AmiGOtranscription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  positive regulation of transcription via serum response element binding  actin cytoskeleton organization  leucine zipper domain binding  positive regulation of transcription by RNA polymerase II  smooth muscle cell differentiation  smooth muscle cell differentiation  
Ontology : EGO-EBItranscription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytosol  positive regulation of transcription via serum response element binding  actin cytoskeleton organization  leucine zipper domain binding  positive regulation of transcription by RNA polymerase II  smooth muscle cell differentiation  smooth muscle cell differentiation  
NDEx NetworkMRTFA
Atlas of Cancer Signalling NetworkMRTFA
Wikipedia pathwaysMRTFA
Orthology - Evolution
OrthoDB57591
GeneTree (enSembl)ENSG00000196588
Phylogenetic Trees/Animal Genes : TreeFamMRTFA
HOGENOMQ969V6
Homologs : HomoloGeneMRTFA
Homology/Alignments : Family Browser (UCSC)MRTFA
Gene fusions - Rearrangements
Fusion : QuiverMRTFA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRTFA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRTFA
dbVarMRTFA
ClinVarMRTFA
1000_GenomesMRTFA 
Exome Variant ServerMRTFA
ExAC (Exome Aggregation Consortium)ENSG00000196588
GNOMAD BrowserENSG00000196588
Varsome BrowserMRTFA
Genetic variants : HAPMAP57591
Genomic Variants (DGV)MRTFA [DGVbeta]
DECIPHERMRTFA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRTFA 
Mutations
ICGC Data PortalMRTFA 
TCGA Data PortalMRTFA 
Broad Tumor PortalMRTFA
OASIS PortalMRTFA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRTFA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMRTFA
Mutations and Diseases : HGMDMRTFA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MRTFA
DgiDB (Drug Gene Interaction Database)MRTFA
DoCM (Curated mutations)MRTFA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRTFA (select a term)
intoGenMRTFA
NCG5 (London)MRTFA
Cancer3DMRTFA(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606078   
Orphanet
DisGeNETMRTFA
MedgenMRTFA
Genetic Testing Registry MRTFA
NextProtQ969V6 [Medical]
TSGene57591
GENETestsMRTFA
Target ValidationMRTFA
Huge Navigator MRTFA [HugePedia]
snp3D : Map Gene to Disease57591
BioCentury BCIQMRTFA
ClinGenMRTFA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57591
Chemical/Pharm GKB GenePA30827
Clinical trialMRTFA
Miscellaneous
canSAR (ICR)MRTFA (select the gene name)
DataMed IndexMRTFA
Other databaseHUGE
Probes
Litterature
PubMed133 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRTFA
EVEXMRTFA
GoPubMedMRTFA
iHOPMRTFA
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 21:35:16 CET 2019

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jlhuret@AtlasGeneticsOncology.org.