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FLASH GENE

Symbol

MYOT

contributors: shn/npt - updated : 31-01-2012

HGNC name	myotilin
HGNC id	12399

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD1A limb girdle muscular dystrophy type 1A MYTP myotilinopathy
Location	5q31.2      Physical location : 137.203.544 - 137.223.539
Synonym name	titin immunoglobulin domain protein
	57 kDa cytoskeletal protein
	limb-girdle muscular dystrophy 1A (autosomal dominant)
Synonym symbol(s)	TTID, LGMD1, LGMD1A

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	20.01 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	By radiation hybrid mapping MYOT has been located on 5q31 cen - D5S479 - D5S1983 - MYOT - D5S1983 - D5S414 - qter
Authors	Salmikangas (1999)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006790 10 - 2290 variant 1 57 498 myotilin is expressed in skeletal and ardiac muscle and colocalizes with alpha-actinin in sarcomeric I bands 1999 10369880 NM_001135940 10 - 1808 - 314 - 1999 10369880

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       lowly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	several phosphorylation sites in the N terminal region, and a unique serine-rich N-terminus
	C-terminal half contains two Ig-like domains homologous to titin
	shares the C-terminal motif E[ST][DE][D/E]L, which has the characteristics of a class III type PDZ domain binding sequence
	first Ig-domain of myotilin (MyoIg1), exhibits I-type Ig-fold , and Ig domains flanked with N- and C-terminal regions were needed for actin-bundling

HOMOLOGY

interspecies	ortholog to Myot, Mus musculus
	ortholog to MYOT, Pan roglodytes
	ortholog to Myot, Rattus norvegicus

Homologene

FAMILY

myotilin/palladin family

CATEGORY

motor/contractile , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	sarcomeric protein
	localizes in sarcomeric Z-discs, where it interacts with several sarcomeric proteins

basic FUNCTION	myotilin plays a role in muscle contraction
	myotilin plays a role, in stabilization and anchorage of thin filaments, which may be a prerequisite for correct Z-disc organization
	core structural molecule in nemaline rods and central core lesions may be having a key role in the dynamic molecular events mediating myofibril assembly in normal and pathologic muscle
	has an important function in the assembly and maintenance of Z-discs

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	cell shape and cell size control

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binds alpha-actinin, gamma-filamin and F-actin
	substrate for the Ca(2+)-dependent protease calpain

cell & other

binding to cytoskeleton

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD1A , MYTP

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS