SVIL - supervillin Gene

Homo sapiens

Also known as MFM10

Gene ID: 6840 | Gene type: protein coding

About SVIL

Cytogenetic location: 10p11.23 Genomic coordinates (GRCh38): 10:29,457,338-29,736,936 (from NCBI)

This gene has 16 transcripts (splice variants), 284 orthologues, 7 paralogues and is associated with 1 phenotype. Broad expression in heart (RPKM 40.9), esophagus (RPKM 29.0) and 21 other tissues.

Summary

This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin Cytoskeleton and the membrane. The encoded protein appears to aid in both Myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]

SVIL Products(4)

mRNA	Protein	Name
NM_001323599.2	NP_001310528.1	supervillin isoform 3
NM_001323600.1	NP_001310529.1	supervillin isoform 4
NM_003174.3	NP_003165.2	supervillin isoform 1
NM_021738.3	NP_068506.2	supervillin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	12711699	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18639526	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	12711699	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in costamere	IDA IDA: Inferred from direct assay	12711699	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12711699	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12711699	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	12711699	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SVIL Protein Structure

Gelsolin

VHP

0
400
800
1200
1600
2000
2214 a.a.

Protein Preferred Names

Protein Names

supervillin

archvillin

SVIL Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SVIL	O95425	NEB	Homo sapiens	P20929	Y2H	18639526

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Myofibrillar Myopathy 10

MFM10

Myopathy, Myofibrillar, 10

Myofibrillar Myopathy

Desmin Related Myopathy	Myotilinopathy
Myopathy, Myofibrillar	Alpha Beta Crystallinopathy
Desmin Storage Myopathy	Desminopathy
Filaminopathy	Protein Surplus Myopathy
Zaspopathy	Myofibrillar Myopathies
Myopathy, Myofibrillar, Desmin-Related	Myopathy, Desmin Storage
Mfm - [Myofibrillar Myopathy]

Myopathy

Muscular Diseases

Myopathies

Frontometaphyseal Dysplasia

Fmd	Dysplasia, Frontometaphyseal

Scoliosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14059	SVIL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SVIL	VGNC	VGNC:65864
Bos taurus	SVIL	VGNC	VGNC:103722
Canis familiaris	SVIL	VGNC	VGNC:47007
Mus musculus	SVIL	MGD	MGI:2147319
Rattus norvegicus	SVIL	RGD	RGD:1306354

Name
Email *

	Sorry, but the email address you supplied was invalid.