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MKL1 (megakaryoblastic leukemia (translocation) 1)

Identity

Other namesMAL (megakaryocytic acute leukaemia)
HGNC (Hugo) MKL1
LocusID (NCBI) 57591
Location 22q13.1
Location_base_pair Starts at 40806285 and ends at 40859444 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

Entity t(1;22)(p13;q13) / acute megakaryocytic leukaemia (M7 ANLL) --> 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
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)MKL1   14334
Cards
AtlasMALID352
Entrez_Gene (NCBI)MKL1  57591  megakaryoblastic leukemia (translocation) 1
GeneCards (Weizmann)MKL1
Ensembl (Hinxton)ENSG00000196588 [Gene_View]  chr22:40806285-40859444 [Contig_View]  MKL1 [Vega]
ICGC DataPortalENSG00000196588
cBioPortalMKL1
AceView (NCBI)MKL1
Genatlas (Paris)MKL1
WikiGenes57591
SOURCE (Princeton)NM_001282660 NM_001282661 NM_001282662 NM_020831
Genomic and cartography
GoldenPath (UCSC)MKL1  -  22q13.1   chr22:40806285-40859444 -  22q13   [Description]    (hg19-Feb_2009)
EnsemblMKL1 - 22q13 [CytoView]
Mapping of homologs : NCBIMKL1 [Mapview]
OMIM606078   
Gene and transcription
Genbank (Entrez)AB037859 AF368061 AF448806 AJ297257 AJ297258
RefSeq transcript (Entrez)NM_001282660 NM_001282661 NM_001282662 NM_020831
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)MKL1
Cluster EST : UnigeneHs.654688 [ NCBI ]
CGAP (NCI)Hs.654688
Alternative Splicing : Fast-db (Paris)GSHG0020412
Alternative Splicing GalleryENSG00000196588
Gene ExpressionMKL1 [ NCBI-GEO ]     MKL1 [ SEEK ]   MKL1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969V6 (Uniprot)
NextProtQ969V6  [Medical]
With graphics : InterProQ969V6
Splice isoforms : SwissVarQ969V6 (Swissvar)
Domaine pattern : Prosite (Expaxy)RPEL (PS51073)    SAP (PS50800)   
Domains : Interpro (EBI)RPEL_repeat [organisation]   SAP_dom [organisation]  
Related proteins : CluSTrQ969V6
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)Q969V6
PDB (SRS)2KVU    2KW9   
PDB (PDBSum)2KVU    2KW9   
PDB (IMB)2KVU    2KW9   
PDB (RSDB)2KVU    2KW9   
Human Protein AtlasENSG00000196588 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ969V6
HPRD10445
IPIIPI00872937   IPI00163729   IPI00941152   IPI00879763   IPI00879645   
Protein Interaction databases
DIP (DOE-UCLA)Q969V6
IntAct (EBI)Q969V6
FunCoupENSG00000196588
BioGRIDMKL1
InParanoidQ969V6
Interologous Interaction database Q969V6
IntegromeDBMKL1
STRING (EMBL)MKL1
Ontologies - Pathways
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleolus  cytoplasm  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  sequence-specific DNA binding transcription factor activity  transcription coactivator activity  actin binding  actin monomer binding  protein binding  nucleus  nucleolus  cytoplasm  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  
Protein Interaction DatabaseMKL1
Wikipedia pathwaysMKL1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MKL1
snp3D : Map Gene to Disease57591
SNP (GeneSNP Utah)MKL1
SNP : HGBaseMKL1
Genetic variants : HAPMAPMKL1
Exome VariantMKL1
1000_GenomesMKL1 
ICGC programENSG00000196588 
Cancer Gene: CensusMKL1 
Somatic Mutations in Cancer : COSMICMKL1 
CONAN: Copy Number AnalysisMKL1 
Mutations and Diseases : HGMDMKL1
Genomic VariantsMKL1  MKL1 [DGVbeta]
dbVarMKL1
ClinVarMKL1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM606078   
MedgenMKL1
GENETestsMKL1
Disease Genetic AssociationMKL1
Huge Navigator MKL1 [HugePedia]  MKL1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneMKL1
Homology/Alignments : Family Browser (UCSC)MKL1
Phylogenetic Trees/Animal Genes : TreeFamMKL1
Chemical/Protein Interactions : CTD57591
Chemical/Pharm GKB GenePA30827
Clinical trialMKL1
Cancer Resource (Charite)ENSG00000196588
Other databases
Other databaseHUGE
Probes
Litterature
PubMed68 Pubmed reference(s) in Entrez
CoreMineMKL1
iHOPMKL1
OncoSearchMKL1

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written06-2001Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/MALID352.html

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indexed on : Fri Aug 8 11:07:18 CEST 2014

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