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FLASH GENE

Symbol

MYPN

contributors: mct/npt - updated : 03-03-2017

HGNC name	myopalladin
HGNC id	23246

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	102.58 kb     20 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032578 20 - 5770 NP_115967 - 1320 - 2008 18342394 NM_001256267 21 - 5725 NP_001243196 - 1320 - 2008 18342394 NM_001256268 24 - 6134 NP_001243197 - 1026 - 2008 18342394

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 liver         Reproductive female system uterus cervix     Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Homo sapiens Muscular striatum cardiac     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	muscle, heart

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five immunoglobulin (Ig) repeats
	six interdomain insertions

HOMOLOGY

Homologene

FAMILY

myotilin/palladin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	localized at the Z line of both heart and skeletal myofibrils, and colocalized with cardiac ankyrin repeat protein (Carp) within the I band

basic FUNCTION	playing a signaling role in targeting and orienting nebulin during sarcomere assembly
	may also link regulatory mechanisms involved in Z-line structures (via alpha-actinin and nebulin/nebulette) to those involved in muscle gene expression (via ANKRD1)
	sarcomeric protein exclusively localized in striated muscle in humans
	myopalladin signals accumulate in the caps together with alpha-actinin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the sarcomere

INTERACTION

DNA

RNA

small molecule

protein	a proline triplet within interdomain-3 interacted directly with the SH3 domains of nebulin and nebulette
	Ig domains III, IV, and V interacted with the C terminus of ACTN2
	N-terminal domain interacted with ANKRD1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1KK , NEM11

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS