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MKL1 (megakaryoblastic leukemia (translocation) 1)

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_symbol (synonym)KIAA1438
MAL
MRTF-A
BSAC
Other aliasMAL (megakaryocytic acute leukaemia)
HGNC (Hugo) MKL1
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)

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) [ 4 ]
  inv(16)(p13q24) CBFA2T3/GLIS2
Acute megakaryoblastic leukemia (AMegL)::M7 acute myeloid leukemia (M7-AML)
t(1;22)(p13;q13) RBM15/MKL1
t(11;12)(p15;p13) NUP98/KDM5A


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)-   -
Cards
AtlasMALID352
Entrez_Gene (NCBI)MKL1  57591  -
Aliases
GeneCards (Weizmann)MKL1
Ensembl hg19 (Hinxton)ENSG00000196588 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196588 [Gene_View]  ENSG00000196588 [Sequence]  - [Contig_View]  MKL1 [Vega]
ICGC DataPortalENSG00000196588
TCGA cBioPortalMKL1
AceView (NCBI)MKL1
Genatlas (Paris)MKL1
WikiGenes57591
SOURCE (Princeton)MKL1
Genetics Home Reference (NIH)MKL1
Genomic and cartography
GoldenPath hg38 (UCSC)MKL1  -  
GoldenPath hg19 (UCSC)MKL1  -  
EnsemblMKL1 - [CytoView hg19]  MKL1 - [CytoView hg38]
Mapping of homologs : NCBIMKL1 [Mapview hg19]  MKL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MKL1
Alternative Splicing GalleryENSG00000196588
Gene ExpressionMKL1 [ NCBI-GEO ]   MKL1 [ EBI - ARRAY_EXPRESS ]   MKL1 [ SEEK ]   MKL1 [ MEM ]
Gene Expression Viewer (FireBrowse)MKL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)57591
GTEX Portal (Tissue expression)MKL1
Human Protein AtlasENSG00000196588-MKL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MKL1
DMDM Disease mutations57591
Blocks (Seattle)MKL1
Human Protein Atlas [tissue]ENSG00000196588-MKL1 [tissue]
HPRD10445
Protein Interaction databases
FunCoupENSG00000196588
BioGRIDMKL1
STRING (EMBL)MKL1
ZODIACMKL1
Ontologies - Pathways
Huge Navigator - [HugePedia]
snp3D : Map Gene to Disease57591
BioCentury BCIQMKL1
ClinGenMKL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57591
Clinical trialMKL1
Miscellaneous
canSAR (ICR)MKL1 (select the gene name)
Other databaseHUGE
Probes
Litterature
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKL1
EVEXMKL1
GoPubMedMKL1
iHOPMKL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Aug 16 11:58:22 CEST 2018

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