MYH11 (myosin heavy chain) (incomplete)

Identity

Hugo	MYH11
Location	16p13
Local_order	proximal (in 16p13.1) from CBP (in 16p13.3) involved in the t(8;16), but distal of MRP, also in 16p13.1

DNA/RNA

	c-MYH11 (16p13) in normal cells: PAC 114C15 (top) and PAC 893C15 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi
Transcription	alternate splicing in 3¼

Protein

Description	the protein¼s name is MYST; 214 KDa, 1857 amino acids known; N-term ATPase globular domain responsible for actin binding and mechanical movement, and a C-term long repeat of coil-coil domain to facilitate filament aggregates; forms hetero-hexameres
Expression	smooth muscle
Function	muscle contraction
Homology	member of the myosin II family

Implicated in

Entity	inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (ANLL) or myelodysplastic syndromes (MDS) --> CBFb - MYH11
Disease	nearly pathognomonic of M4eo-ANLL: with eosinophilia; frequent CNS involvement
Prognosis	high CR rate; better prognosis than most other ANLL
Cytogenetics	the 3 chromosome anomalies are variants of each other
Hybrid/Mutated Gene	5¼ CBFb - 3¼ MYH11
Abnormal Protein	the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain

External links

	Nomenclature
Hugo	MYH11
GDB	MYH11
Entrez_Gene	MYH11  4629  myosin, heavy chain 11, smooth muscle
	Cards
Atlas	MYH11ID43
GeneCards	MYH11
Ensembl	MYH11 [Search_View]   ENSG00000133392 [Gene_View]
Genatlas	MYH11
GeneLynx	MYH11
eGenome	MYH11
euGene	4629
	Genomic and cartography
GoldenPath	MYH11  -  16p13   chr16:15704495-15858388 -  16p13.11   [Description]    (hg18-Mar_2006)
Ensembl	MYH11 - 16p13.11 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	MYH11
	Gene and transcription
Genbank	AA552189 [ ENTREZ ]
Genbank	AB020673 [ ENTREZ ]
Genbank	AF013570 [ ENTREZ ]
Genbank	AF020091 [ ENTREZ ]
Genbank	AK125033 [ ENTREZ ]
RefSeq	NM_001040113 [ SRS ]    NM_001040113 [ ENTREZ ]
RefSeq	NM_001040114 [ SRS ]    NM_001040114 [ ENTREZ ]
RefSeq	NM_002474 [ SRS ]    NM_002474 [ ENTREZ ]
RefSeq	NM_022844 [ SRS ]    NM_022844 [ ENTREZ ]
RefSeq	AC_000059 [ SRS ]    AC_000059 [ ENTREZ ]
RefSeq	AC_000148 [ SRS ]    AC_000148 [ ENTREZ ]
RefSeq	NC_000016 [ SRS ]    NC_000016 [ ENTREZ ]
RefSeq	NT_010393 [ SRS ]    NT_010393 [ ENTREZ ]
RefSeq	NW_001838356 [ SRS ]    NW_001838356 [ ENTREZ ]
RefSeq	NW_926051 [ SRS ]    NW_926051 [ ENTREZ ]
AceView	MYH11 AceView - NCBI
Unigene	Hs.460109 [ SRS ]    Hs.460109 [ NCBI ]     HS460109 [ spliceNest ]
Fast-db	4106 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O14729 [ SRS]    O14729 [ EXPASY ]     O14729 [ INTERPRO ]
Interpro	IPR002928 Myosin_tail [ SRS ]    IPR002928 Myosin_tail [ EBI ]
CluSTr	O14729
Pfam	PF01576 Myosin_tail_1 [ SRS ]    PF01576 Myosin_tail_1 [ Sanger ]    pfam01576 [ NCBI-CDD ]
Blocks	O14729
PDB	MYH11 [ SRS ]    MYH11 [ PdbSum ],   MYH11 [ IMB ]   MYH11 [ RSDB ]
HPRD	01174
	Protein Interaction databases
DIP	O14729
IntAct	O14729
	Polymorphism : SNP, mutations, diseases
OMIM	132900;160745    [ map ]
GENECLINICS	132900;160745
SNP	MYH11 [dbSNP-NCBI]
SNP	NM_001040113 [SNP-NCI]
SNP	NM_001040114 [SNP-NCI]
SNP	NM_002474 [SNP-NCI]
SNP	NM_022844 [SNP-NCI]
SNP	MYH11 [GeneSNPs - Utah]  MYH11] [HGBASE - SRS]
HAPMAP	MYH11 [HAPMAP]
COSMIC	MYH11 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	MYH11 [Translocation breakpoints In Cancer]
HGMD	MYH11
	General knowledge
Family Browser	MYH11 [UCSC Family Browser]
SOURCE	NM_001040113
SOURCE	NM_001040114
SOURCE	NM_002474
SOURCE	NM_022844
SMD	Hs.460109
SAGE	Hs.460109
GO	nucleotide binding [Amigo]  nucleotide binding
GO	motor activity [Amigo]  motor activity
GO	actin binding [Amigo]  actin binding
GO	calmodulin binding [Amigo]  calmodulin binding
GO	ATP binding [Amigo]  ATP binding
GO	striated muscle thick filament [Amigo]  striated muscle thick filament
GO	smooth muscle contraction [Amigo]  smooth muscle contraction
GO	striated muscle contraction [Amigo]  striated muscle contraction
GO	structural constituent of muscle [Amigo]  structural constituent of muscle
GO	myosin complex [Amigo]  myosin complex
GO	muscle thick filament assembly [Amigo]  muscle thick filament assembly
GO	melanosome [Amigo]  melanosome
GO	elastic fiber assembly [Amigo]  elastic fiber assembly
GO	cardiac muscle fiber development [Amigo]  cardiac muscle fiber development
PubGene	MYH11
TreeFam	MYH11
CTD	4629 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	MYH11 (16p13) in normal cells (bari)
Probe	MYH11 Related clones (RZPD - Berlin)
	PubMed
PubMed	29 Pubmed reference(s) in LocusLink

Bibliography

Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.

Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS

Blood. 1993 ; 82 (3) : 716-721.

PMID 8338941

A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.

van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC, Hagemeijer A, van Ommen GJ, Breuning MH

Blood. 1993 ; 82 (10) : 2948-2952.

PMID 8219185

A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.

van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC, Hagemeijer A, van Ommen GJ, Breuning MH

Blood. 1993 ; 82 (10) : 2948-2952.

PMID 8219185

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

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Contributor(s)

Written	06-1999	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . MYH11 (myosin heavy chain) (incomplete). Atlas Genet Cytogenet Oncol Haematol. June 1999 . URL : http://AtlasGeneticsOncology.org/Genes/MYH11ID43.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 17:47:20 2008