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FLASH GENE

Symbol

MYO3A

contributors: mct - updated : 29-08-2015

HGNC name	myosin IIIA
HGNC id	7601

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DFNB30 neurosensory deafness 30
Location	10p12.1      Physical location : 26.223.001 - 26.501.465
EC.number	2.7.11.1

DNA

TYPE	anonymous DNA segment
STRUCTURE	278.46 kb     35 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - [D10S572 - D10S197 - D10S1775 ] - D10S588 - D10S1684 - D10S193 - D10S599 - D10S604 - D10S220 - D10S539 - D10S596 - D10S549 - cen
Authors	Dose (00)

RNA

TRANSCRIPTS	type

text	two spliced variants (6.5 kb and 4 kb)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017433 35 - 5798 NP_059129 - 1616 - 2003 1267282

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 Digestive mouth tongue       Endocrine pancreas       highly Reproductive male system testis       Respiratory lung       moderately Visual eye retina       Mus musculus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual     Mus musculus Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a unique N-terminal kinase domain
	three consensus calmodulin-binding motifs
	catalytic domain
	a C-terminal actin-binding domain

HOMOLOGY

interspecies

homolog to Drosophila Ninac

Homologene

FAMILY

myosin family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microfilament

basic FUNCTION	actin-based motor protein having a protein kinase activity
	can spend a majority of its ATP hydrolysis cycling time on actin
	MYO3A and ESPN have been shown to influence the length of mechanosensory stereocilia 8)
	transports cargo to the distal end of actin protrusions and contains a kinase domain that is thought to autoregulate its activity
	like MYO3A, MYO3B can elongate filopodia by transporting ESPN to the polymerizing end of actin filaments
	targets actin protrusion tips using a motility mechanism dependent on both motor and tail actin-binding activity
	phosphorylation-dephosphorylation mechanism plays an essential role in mediating the transport and actin bundle formation and stability functions of MYO3A

CELLULAR PROCESS

nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/hearing

a component

INTERACTION

DNA

RNA

small molecule

protein	ESPN colocalizes with MYO3A at stereocilia tips and interacts with a unique conserved domain of MYO3A 8)
	interaction of MYO3A with the cytosolic tail of the integral tip-link protein protocadherin 15 (PCDH15), a core component of MET complex

cell & other

REGULATION

Other

its activity is regulated by phosphorylation of the kinase domain activation loop

ASSOCIATED DISORDERS

corresponding disease(s)

DFNB30

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

outer hair cells of Myo3a(KI/KI) mice degenerate with age in a pattern consistent with their progressive hearing loss