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FLASH GENE

Symbol

SVIL

contributors: SGE/npt - updated : 08-09-2007

HGNC name	supervillin
HGNC id	11480

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10p11.23      Physical location : 29.746.276 - 30.024.730
Synonym name	membrane-associated F-actin binding protein p205
	archvillin
Synonym symbol(s)	DKFZp686A17191, p205/p250

DNA

TYPE	functioning gene
STRUCTURE	278.45 kb     38 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021738 38 splicing 8306 NP_068506 - 2214 - - isoform 2 NM_003174 36 splicing 6725 NP_003165 - 1788 - - isoform 1

EXPRESSION

Type	ubiquitous

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 Nervous spinal cord         Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth     highly Muscular striatum cardiac   highly Muscular striatum skeletal   highly Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	three potential nuclear localization signals (NLS)
	N-terminus containing nuclear localization signals
	three potential F-actin binding sequences in the Cterminus with the C-terminal head piece of villin
	gelsolin repeats

HOMOLOGY

Homologene

FAMILY

villin/gelsolin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
text	localizes within nuclei and with dystrophin at costameres, regions of F-actin membrane attachment in skeletal muscle

basic FUNCTION	bipartite protein linking with high- affinity the actin cytoskeleton and the membrane
	including recruitment of actin and other cytoskeletal proteins into specialized structures at the plasma membrane and in the nuclei of growing cells
	may mediate actin and myosin II filament organization at cholesterol-rich membrane domains
	costameric protein assembling during myogenesis and contributing to myogenic membrane structure and differentiation
	serves as a new ERK scaffolding protein and provides a mechanism for regulation of ERK binding, activation and release from the signaling complex (Gangopadhyay 2009)
	attaches directly to the Z-line through an interaction with the nebulin C-terminus (Lee 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	F-actin binding
	associates with androgen receptor (AR) and modulates its transcriptional activity
	interaction with nebulin (may provide a direct link between the sarcolemma and myofibrillar Z-lines)
	smooth muscle archvillin binds ERK and members of the ERK signaling cascade (MEK, B-Raf) (Gangopadhyay 2009)

cell & other

REGULATION

Other

phosphorylation by ERK decreases the association of phospho ERK with smooth muscle archvillin (Gangopadhyay 2009)

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS