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FLASH GENE

Symbol

CMYA5

contributors: mct - updated : 16-02-2011

HGNC name	cardiomyopathy associated 5
HGNC id	14305

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal domain (N-(1-103)) binds to a 413-kDa TRIM-like protein, myospryn (CMYA5) with a repetitive, acidic N-terminal part
	a FN3 domain and the SPRY domain are needed for titin M10 binding
	C terminus with BBC, FN3, and SPRY domains in a configuration reminiscent of the tripartite motif protein family, as well as the dysbindin-binding site and a region mediating self-association
	and a domain structure related to the tripartite motif proteins

HOMOLOGY

Homologene

FAMILY	SPla/RYanodine receptor (SPRY) family
	tripartite motif superfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	sarcoplasmic reticulum
	localized to the costamere
	characterization of CMYA5 and XIRP2 revealed localization of their protein products to the muscle costamere

basic FUNCTION	Z-disc-related protein, costameric protein functioning as a muscle-specific protein kinase A (PKA) anchoring protein or AKAP1
	functions directly downstream of MEF2A at the costamere in striated muscle potentially playing a role in myofibrillogenesis
	having ability to anchor AKAP1 at the costamere (may have profound regulatory implications given that dystrophin has been shown to be phosphorylated by AKAP1)
	muscle-specific protein which function in vesicular trafficking and protein kinase A signaling and implicated in the pathogenesis of Duchenne muscular dystrophy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to dysbindin
	direct molecular interactions of myospryn with the M-band part of the sarcomeric protein titin and with the skeletal muscle-specific protease calpain 3
	XIRP2 and CMYA5 are MEF2A-dependent genes that encode costamere-localized proteins

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   dysregulation of expression in Duchenne muscular dystrophy

Susceptibility

to left ventricular wall thickness in patients with hypertension

Variant & Polymorphism other	polymorphism of myospryn is associated with left ventricular hypertrophy in patients with hypertension

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS