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MKL1 (megakaryoblastic leukemia (translocation) 1)

Identity

Other namesMAL (megakaryocytic acute leukaemia)
HGNC (Hugo) MKL1
Location 22q13
Location_base_pair Starts at 39136238 and ends at 39362636 bp from pter ( according to hg18-Mar_2006)  [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
  

External links

Nomenclature
HGNC (Hugo)MKL1   14334
Entrez_Gene (NCBI)MKL1  57591  megakaryoblastic leukemia (translocation) 1
Cards
AtlasMALID352
GeneCards (Weizmann)MKL1
Ensembl (Hinxton)ENSG00000196588 [Gene_View]  MKL1 [Vega]
AceView (NCBI)MKL1
Genatlas (Paris)MKL1
euGene (Indiana)57591
SOURCE (Stanford)NM_020831
Gene Expression (Array Express) ENSG00000196588
Genomic and cartography
GoldenPath (UCSC)MKL1  -  22q13   chr22:39136238-39362636 -  22q13   [Description]    (hg18-Mar_2006)
EnsemblMKL1 - 22q13 [CytoView]
Mapping of homologs : NCBIMKL1 [Mapview]
OMIM606078   
Gene and transcription
Gene : Genbank (Entrez)AB037859 AF368061 AF448806 AJ297257 AJ297258
Reference sequence (RefSeq transcript) :SRSNM_020831
Reference transcript : EntrezNM_020831
RefSeq genomic : SRSAC_000065 AC_000154 NC_000022 NT_011520 NW_001838745 NW_927628
RefSeq genomic : EntrezAC_000065 AC_000154 NC_000022 NT_011520 NW_001838745 NW_927628
Consensus coding sequences : CCDS NCBIMKL1
Cluster EST : UnigeneHs.654688 [ SRS ] Hs.654688 [ NCBI ]
Alternative Splicing : Fast-db (Paris)6462
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ969V6 (SRS) Q969V6 (Expasy) Q969V6 (Uniprot)
With graphics : InterProQ969V6
Splice isoforms : VarSplice FASTAQ969V6(VarSplice FASTA)
Domaine pattern : Prosite (SRS)RPEL (PS51073)    SAP (PS50800)   
Domain pattern : Prosite (Expaxy)RPEL (PS51073)    SAP (PS50800)   
Domains : Interpro (SRS)RPEL_repeat    SAP_DNA_bd   
Domains : Interpro (EBI)RPEL_repeat    SAP_DNA_bd   
Related proteins : CluSTrQ969V6
Domain families : Pfam SRSRPEL (PF02755)    SAP (PF02037)   
Domain families : Pfam SangerRPEL (PF02755)    SAP (PF02037)   
Domain families : Pfam NCBIpfam02755    pfam02037   
Domain families : Smart EMBLRPEL (SM00707)  SAP (SM00513)  
Blocks (Seattle)Q969V6
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD10445
Protein Interaction databases
DIP (DOE-UCLA)Q969V6
IntAct (EBI)Q969V6
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIMKL1
SNP : GeneSNP UtahMKL1
SNP : HGBaseMKL1
Genetic variants : HAPMAPMKL1
Cancer Gene: CensusMKL1 
Somatic Mutations in Cancer : COSMICMKL1 
Translocation Breakpoints in Cancer : TICdbMKL1 
Mutations and Diseases : HGMDMKL1
Hereditary diseases : OMIM606078   
Hereditary diseases : GENETests606078   
Diseases : Genetic AssociationMKL1
General knowledge
Homologs : HomoloGeneMKL1
Homology/Alignments : Family Browser UCSCMKL1
Phylogenetic Trees/Animal Genes : TreeFamMKL1
Chemical/Protein Interactions : CTD57591
Keywords Ontology : AmiGOnucleic acid binding  transcription coactivator activity  actin monomer binding  protein binding  nucleus  regulation of transcription  
Keywords Ontology : EGO-EBInucleic acid binding  transcription coactivator activity  actin monomer binding  protein binding  nucleus  regulation of transcription  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Other databaseHUGE
Probes
Probes : ImagenesMKL1 Related clones (RZPD - Berlin)
Literature
PubMed40 Pubmed reference(s) in Entrez
PubGeneMKL1

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

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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. June 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/MALID352.html

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