MKL1 (megakaryoblastic leukemia (translocation) 1)

Identity

Other names	MAL (megakaryocytic acute leukaemia)
HGNC	MKL1
Location	22q13

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	MKL1   14334
Entrez_Gene	MKL1  57591  megakaryoblastic leukemia (translocation) 1
	Cards
Atlas	MALID352
GeneCards	MKL1
Ensembl	MKL1 [Search_View]   ENSG00000196588 [Gene_View]
Genatlas	MKL1
GeneLynx	MKL1
eGenome	MKL1
euGene	57591
	Genomic and cartography
GoldenPath	MKL1  -  22q13   chr22:39136238-39362636 -  22q13   [Description]    (hg18-Mar_2006)
Ensembl	MKL1 - 22q13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MKL1
	Gene and transcription
Genbank	AB037859 [ ENTREZ ]
Genbank	AF364035 [ ENTREZ ]
Genbank	AF368061 [ ENTREZ ]
Genbank	AF448806 [ ENTREZ ]
Genbank	AJ297257 [ ENTREZ ]
RefSeq	NM_020831 [ SRS ]    NM_020831 [ ENTREZ ]
RefSeq	AC_000065 [ SRS ]    AC_000065 [ ENTREZ ]
RefSeq	AC_000154 [ SRS ]    AC_000154 [ ENTREZ ]
RefSeq	NC_000022 [ SRS ]    NC_000022 [ ENTREZ ]
RefSeq	NT_011520 [ SRS ]    NT_011520 [ ENTREZ ]
RefSeq	NW_001838745 [ SRS ]    NW_001838745 [ ENTREZ ]
RefSeq	NW_927628 [ SRS ]    NW_927628 [ ENTREZ ]
AceView	MKL1 AceView - NCBI
Unigene	Hs.654688 [ SRS ]    Hs.654688 [ NCBI ]     HS654688 [ spliceNest ]
Fast-db	6462 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q29R68 [ SRS]    Q29R68 [ EXPASY ]     Q29R68 [ INTERPRO ]     Q29R68 [ UNIPROT ]
CluSTr	Q29R68
Blocks	Q29R68
HPRD	10445
	Protein Interaction databases
DIP	Q29R68
IntAct	Q29R68
	Polymorphism : SNP, mutations, diseases
OMIM	606078    [ map ]
GENECLINICS	606078
SNP	MKL1 [dbSNP-NCBI]
SNP	NM_020831 [SNP-NCI]
SNP	MKL1 [GeneSNPs - Utah]  MKL1] [HGBASE - SRS]
HAPMAP	MKL1 [HAPMAP]
TICdb	MKL1 [Translocation breakpoints In Cancer]
HGMD	MKL1
	General knowledge
Family Browser	MKL1 [UCSC Family Browser]
SOURCE	NM_020831
SMD	Hs.654688
SAGE	Hs.654688
GO	nucleic acid binding [Amigo]  nucleic acid binding
GO	protein binding [Amigo]  protein binding
GO	nucleus [Amigo]  nucleus
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
PubGene	MKL1
TreeFam	MKL1
CTD	57591 [Comparative ToxicoGenomics Database]
	Other databases
Other database	HUGE
	Probes
Probe	MKL1 Related clones (RZPD - Berlin)
	PubMed
PubMed	28 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	06-2001	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Sep 29 18:41:51 2008