Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

MYH3

contributors: mct/npt - updated : 20-05-2016

HGNC name	myosin, heavy polypeptide 3, skeletal muscle, embryonic
HGNC id	7573

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FSS Freeman Sheldon syndrome MPTSA1 multiple pterygium syndrome autosomal dominant 1 SHHS Sheldon-Hall syndrome
Location	17p13.1      Physical location : 10.531.842 - 10.559.465
Synonym name	muscle embryonic myosin heavy chain 3
	myosin, skeletal, heavy chain, embryonic 1
Synonym symbol(s)	MYHC-EMB, MYHSE1, HEMHC, SMHCE, EMYH

DNA

TYPE	functioning gene
STRUCTURE	27.62 kb     40 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see MYH1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002470 40 - 6037 NP_002461 - 1940 - 2008 18695058

EXPRESSION

Type	restricted

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 Cardiovascular heart         Homo sapiens Fetal Digestive liver         Homo sapiens Fetal Lymphoid/Immune thymus         Homo sapiens Fetal Reproductive female system placenta       Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	pregnancy, abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	globular head associating to the light chain (amino acid residues &
	8764;1–779)
	actin and ATP binding sites
	a neck containing IQ calmodulin or calmodulin-like light binding domain (the converter) connected to the base of a long alpha helical tail, rodlike tail sequence highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils
	a myosin head-like domain
	globular motor domain (AAs &
	8764;1–779) attached by short neck (&
	8764;779–840) and hinge (&
	8764;840) regions to a long coiled-coil rod domain (&
	8764;840–1,940)
	majority of the rod region comprises the myosin tail domain (AAs &
	8764;1,070–1,940)

HOMOLOGY

Homologene

FAMILY

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	in thick filaments of the myofibrils

basic FUNCTION	motor contractile protein moving towards the "plus" end of actin track
	involved in muscle contraction
	plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy
	protein that assembles as homo- and hetero-dimers to form the thick filament in the sarcomere

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

hexameric protein that consists of 2 heavy chain subunits (MHC), two alkali light chain subunits (MLC) and two regulatory light chain subunits (MLC-2)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FSS , SHHS , MPTSA1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in advanced pelvic organ prolapse

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS