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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

Other namesMAL (megakaryocytic acute leukaemia)
HGNC (Hugo) MKL1
LocusID (NCBI) 57591
Atlas_Id 352
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 40806285 and ends at 40859444 bp from pter ( according to hg19-Feb_2009)  [Mapping MKL1.png]
Fusion genes
(updated 2016)
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

External links

Nomenclature
HGNC (Hugo)MKL1   14334
Cards
AtlasMALID352
Entrez_Gene (NCBI)MKL1  57591  megakaryoblastic leukemia (translocation) 1
AliasesBSAC; MAL; MRTF-A
GeneCards (Weizmann)MKL1
Ensembl hg19 (Hinxton)ENSG00000196588 [Gene_View]  chr22:40806285-40859444 [Contig_View]  MKL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000196588 [Gene_View]  chr22:40806285-40859444 [Contig_View]  MKL1 [Vega]
ICGC DataPortalENSG00000196588
TCGA cBioPortalMKL1
AceView (NCBI)MKL1
Genatlas (Paris)MKL1
WikiGenes57591
SOURCE (Princeton)MKL1
Genomic and cartography
GoldenPath hg19 (UCSC)MKL1  -     chr22:40806285-40859444 -  22q13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MKL1  -     22q13   [Description]    (hg38-Dec_2013)
EnsemblMKL1 - 22q13 [CytoView hg19]  MKL1 - 22q13 [CytoView hg38]
Mapping of homologs : NCBIMKL1 [Mapview hg19]  MKL1 [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)NC_000022 NC_018933 NT_011520 NW_004929430
Consensus coding sequences : CCDS (NCBI)MKL1
Cluster EST : UnigeneHs.654688 [ NCBI ]
CGAP (NCI)Hs.654688
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57591
GTEX Portal (Tissue expression)MKL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969V6 (Uniprot)
NextProtQ969V6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969V6
Splice isoforms : SwissVarQ969V6 (Swissvar)
PhosPhoSitePlusQ969V6
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)    SAP (PS50800)   
Domains : Interpro (EBI)RPEL_repeat    SAP_dom   
Domain families : Pfam (Sanger)RPEL (PF02755)    SAP (PF02037)   
Domain families : Pfam (NCBI)pfam02755    pfam02037   
Domain families : Smart (EMBL)RPEL (SM00707)  SAP (SM00513)  
DMDM Disease mutations57591
Blocks (Seattle)MKL1
PDB (SRS)2KVU    2KW9   
PDB (PDBSum)2KVU    2KW9   
PDB (IMB)2KVU    2KW9   
PDB (RSDB)2KVU    2KW9   
Structural Biology KnowledgeBase2KVU    2KW9   
SCOP (Structural Classification of Proteins)2KVU    2KW9   
CATH (Classification of proteins structures)2KVU    2KW9   
SuperfamilyQ969V6
Human Protein AtlasENSG00000196588
Peptide AtlasQ969V6
HPRD10445
IPIIPI00872937   IPI00163729   IPI00941152   IPI00879763   IPI00879645   
Protein Interaction databases
DIP (DOE-UCLA)Q969V6
IntAct (EBI)Q969V6
FunCoupENSG00000196588
BioGRIDMKL1
STRING (EMBL)MKL1
ZODIACMKL1
Ontologies - Pathways
QuickGOQ969V6
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  positive regulation of transcription via serum response element binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  leucine zipper domain binding  positive regulation of transcription from RNA polymerase II promoter  smooth muscle cell differentiation  negative regulation of apoptotic signaling pathway  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  RNA polymerase II transcription coactivator activity  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  transcription, DNA-templated  positive regulation of transcription via serum response element binding  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  leucine zipper domain binding  positive regulation of transcription from RNA polymerase II promoter  smooth muscle cell differentiation  negative regulation of apoptotic signaling pathway  
REACTOMEQ969V6 [protein]
REACTOME PathwaysR-HSA-5663220 RHO GTPases Activate Formins [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkMKL1
Wikipedia pathwaysMKL1
Orthology - Evolution
OrthoDB57591
GeneTree (enSembl)ENSG00000196588
Phylogenetic Trees/Animal Genes : TreeFamMKL1
Homologs : HomoloGeneMKL1
Homology/Alignments : Family Browser (UCSC)MKL1
Gene fusions - Rearrangements
Fusion : MitelmanMKL1/APOL4 [22q13.1/22q12.3]  
Fusion : MitelmanMKL1/ARAP1 [22q13.1/11q13.4]  [t(11;22)(q13;q13)]  
Fusion : MitelmanMKL1/NTNG1 [22q13.1/1p13.3]  [t(1;22)(p13;q13)]  
Fusion : MitelmanMKL1/SCGB1C1 [22q13.1/11p15.5]  [t(11;22)(p15;q13)]  
Fusion : MitelmanMKL1/SLC25A17 [22q13.1/22q13.2]  [t(22;22)(q13;q13)]  
Fusion : MitelmanMKL1/SPIDR [22q13.1/8q11.21]  [t(8;22)(q11;q13)]  
Fusion : MitelmanRBM15/MKL1 [1p13.3/22q13.1]  [t(1;22)(p13;q13)]  
Fusion : MitelmanTCF20/MKL1 [22q13.2/22q13.1]  [t(22;22)(q13;q13)]  
Fusion: TCGAMKL1 22q13.1 APOL4 22q12.3 LUAD
Fusion: TCGAMKL1 22q13.1 ARAP1 11q13.4 SKCM
Fusion: TCGAMKL1 22q13.1 KIAA0146 KIRC
Fusion: TCGAMKL1 22q13.1 NTNG1 1p13.3 LUAD
Fusion: TCGAMKL1 22q13.1 SCGB1C1 11p15.5 LUAD
Fusion: TCGAMKL1 22q13.1 SLC25A17 22q13.2 LUSC
Fusion: TCGATCF20 22q13.2 MKL1 22q13.1 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerMKL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MKL1
dbVarMKL1
ClinVarMKL1
1000_GenomesMKL1 
Exome Variant ServerMKL1
ExAC (Exome Aggregation Consortium)MKL1 (select the gene name)
Genetic variants : HAPMAP57591
Genomic Variants (DGV)MKL1 [DGVbeta]
Mutations
ICGC Data PortalMKL1 
TCGA Data PortalMKL1 
Broad Tumor PortalMKL1
OASIS PortalMKL1 [ Somatic mutations - Copy number]
Cancer Gene: CensusMKL1 
Somatic Mutations in Cancer : COSMICMKL1 
intOGen PortalMKL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch MKL1
DgiDB (Drug Gene Interaction Database)MKL1
DoCM (Curated mutations)MKL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MKL1 (select a term)
intoGenMKL1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:40806285-40859444  ENSG00000196588
CONAN: Copy Number AnalysisMKL1 
Mutations and Diseases : HGMDMKL1
OMIM606078   
MedgenMKL1
Genetic Testing Registry MKL1
NextProtQ969V6 [Medical]
TSGene57591
GENETestsMKL1
Huge Navigator MKL1 [HugePedia]
snp3D : Map Gene to Disease57591
BioCentury BCIQMKL1
ClinGenMKL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57591
Chemical/Pharm GKB GenePA30827
Clinical trialMKL1
Miscellaneous
canSAR (ICR)MKL1 (select the gene name)
Other databaseHUGE
Probes
Litterature
PubMed90 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMKL1
EVEXMKL1
GoPubMedMKL1
iHOPMKL1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 11 12:57:40 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.