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FLASH GENE

Symbol

MYH11

contributors: mct - updated : 17-03-2014

HGNC name	myosin, heavy polypeptide 11, smooth muscle
HGNC id	7569

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMLM4EO acute myelomonocytic leukemia with bone marrow eosinophilia TAAD1 thoracic aortic aneurysm with aortic dissection 1
Location	16p13.12      Physical location : 15.796.993 - 15.950.887
Synonym name	smooth muscle myosin heavy chain 11, isoform SM2
	myosin heavy chain 11
Synonym symbol(s)	SMHC, SMMHC, AAT4, FAA4, FLJ35232, MGC126726, MGC32963, KIAA0866

DNA

TYPE	functioning gene
STRUCTURE	153.90 kb     42 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022844 42 - 6921 NP_074035 - 1938 - 2007 17571080 SM2A NM_001040113 43 - 6942 - 1945 - 2007 17571080 SM2B NM_002474 41 - 6882 NP_002465 227.3 1972 - 2007 17571080 SM1A NM_001040114 42 - 6903 - 1979 - 2007 17571080 SM1B

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Reproductive female system uterus     highly   male system prostate     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head associating to the light chain
	actin and ATP binding sites
	a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical tail
	a coiled-coil C-terminal domain

mono polymer

hexamer

HOMOLOGY

Homologene

FAMILY

myosin heavy chain family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle
	intracellular,cytoplasm,cytosolic
text	in the melanosome

basic FUNCTION	motor contractile protein moving towards the "plus" end of actin track, smooth muscle myosin
	involved in muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

two heavy chain subunits and two pairs of non-identical light chain subunits

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

TAAD1 , AMLM4EO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   inversion     acute myeloid leukemia, most commonly of the M4Eo subtype with pericentric inversion inv(16)(p13q22) and other rearrangements of chr 16 tumoral somatic mutation     gain of function involved in intestinal tumorigenesis (mutation may affect the cellular energy balance or disturb cell lineage decisions in tumor progenitor cells) constitutional     --low   in aortic dissection

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS