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FLASH GENE

Symbol

NEXN

contributors: mct - updated : 16-12-2009

HGNC name	nexilin (F actin binding protein)
HGNC id	29557

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1CC cardiomyopathy, dilated or hypertrophic 1 CC
Location	1p31.1      Physical location : 78.354.199 - 78.409.576
Synonym name	nexilin
	nelin
	F-actin binding protein
Synonym symbol(s)	NELIN, nexilin, MGC104234, MGC138865, MGC138866

DNA

TYPE	functioning gene
STRUCTURE	53.38 kb     13 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_144573 13 - 3405 NP_653174 - 675 - 2009 19881492 NM_001172309 12 - 3213 NP_001165780 - 611 - 2009 19881492

EXPRESSION

Type

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       highly Homo sapiens Skin/Tegument skin scalp       Homo sapiens

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N-terminally located actin-binding domains (ABD)
	one IQ domain
	one myosin-like globular head domain
	a coiled-coil domain (CC)
	a C-terminal immunoglobulin superfamily class

HOMOLOGY

interspecies

homolog to murine Nexn

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	F-actin-binding protein at cell-matrix adherens junctions

basic FUNCTION	may regulate the formations of stress fibers, focal adhesion and its signaling complex, and even participate in the signal transduction in focal adhesions
	F-actin associated protein that mediates cell motility
	Z-disk protein, playing an unique role in protecting Z-disks from mechanical trauma
	crucial protein that functions to protect cardiac Z-discs from forces generated within the sarcomere
	has a unique role in stabilizing cardiac Z-discs and is essential for maintaining Z-disc integrity against the extreme forces generated during muscle contraction

CELLULAR PROCESS

cell migration & motility

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

F-actin associated protein

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMD1CC

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS