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Aliases for SVIL Gene

Aliases for SVIL Gene

  • Supervillin 2 3
  • Archvillin 2 3 4
  • P205/P250 3 4
  • Membrane-Associated F-Actin Binding Protein P205 3

External Ids for SVIL Gene

Previous GeneCards Identifiers for SVIL Gene

  • GC10M029896
  • GC10M029750
  • GC10M029786
  • GC10M029841

Summaries for SVIL Gene

Entrez Gene Summary for SVIL Gene

  • 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. Two transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for SVIL Gene

SVIL (Supervillin) is a Protein Coding gene. Diseases associated with SVIL include androgenic alopecia. Among its related pathways are Coregulation of Androgen receptor activity. GO annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is AVIL.

UniProtKB/Swiss-Prot for SVIL Gene

  • Forms a high-affinity link between the actin cytoskeleton and the membrane. Isoform 1 (archvillin) is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function. Isoform 2 may be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity).

Gene Wiki entry for SVIL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SVIL Gene

Genomics for SVIL Gene

Regulatory Elements for SVIL Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SVIL Gene

Chromosome:
10
Start:
29,457,338 bp from pter
End:
29,736,935 bp from pter
Size:
279,598 bases
Orientation:
Minus strand

Genomic View for SVIL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SVIL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SVIL Gene

Proteins for SVIL Gene

  • Protein details for SVIL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95425-SVIL_HUMAN
    Recommended name:
    Supervillin
    Protein Accession:
    O95425
    Secondary Accessions:
    • D3DRW9
    • M1J557
    • O60611
    • O60612
    • Q5VZK5
    • Q5VZK6
    • Q9H1R7

    Protein attributes for SVIL Gene

    Size:
    2214 amino acids
    Molecular mass:
    247746 Da
    Quaternary structure:
    • Associates with F-actin. Interacts with NEB. Interacts with MYH9. Interacts with MYLK. Isoform 2 interacts with TRIP6. Isoform 2 interacts with DYNLT1. Interacts with KIF14; at midbody during cytokinesis (By similarity).

    Three dimensional structures from OCA and Proteopedia for SVIL Gene

    Alternative splice isoforms for SVIL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SVIL Gene

Proteomics data for SVIL Gene at MOPED

Post-translational modifications for SVIL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SVIL Gene

Antibody Products

No data available for DME Specific Peptides for SVIL Gene

Domains & Families for SVIL Gene

Gene Families for SVIL Gene

Suggested Antigen Peptide Sequences for SVIL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95425

UniProtKB/Swiss-Prot:

SVIL_HUMAN :
  • As opposed to other villin-type headpiece domains, supervillin HP (SVHP) doesnt bind F-actin due to the absence of a conformationally flexible region (V-loop).
  • Belongs to the villin/gelsolin family.
  • Contains 5 gelsolin-like repeats.
Domain:
  • As opposed to other villin-type headpiece domains, supervillin HP (SVHP) doesnt bind F-actin due to the absence of a conformationally flexible region (V-loop).
  • Contains 1 HP (headpiece) domain.
Family:
  • Belongs to the villin/gelsolin family.
Similarity:
  • Contains 5 gelsolin-like repeats.
genes like me logo Genes that share domains with SVIL: view

Function for SVIL Gene

Molecular function for SVIL Gene

GENATLAS Biochemistry:
superviller,205 kDa,F-actin binding protein,highly expressed in skeletal,cardiac and smooth muscle
UniProtKB/Swiss-Prot Function:
Forms a high-affinity link between the actin cytoskeleton and the membrane. Isoform 1 (archvillin) is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation. Appears to be involved in myosin II assembly. May modulate myosin II regulation through MLCK during cell spreading, an initial step in cell migration. May play a role in invadopodial function. Isoform 2 may be involved in modulation of focal adhesions. Supervillin-mediated down-regulation of focal adhesions involves binding to TRIP6. Plays a role in cytokinesis through KIF14 interaction (By similarity).

Gene Ontology (GO) - Molecular Function for SVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0005515 protein binding IPI 18639526
GO:0051015 actin filament binding IDA 12711699
genes like me logo Genes that share ontologies with SVIL: view
genes like me logo Genes that share phenotypes with SVIL: view

Animal Model Products

miRNA for SVIL Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SVIL

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SVIL Gene

Localization for SVIL Gene

Subcellular locations from UniProtKB/Swiss-Prot for SVIL Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, invadopodium. Cell projection, podosome. Midbody. Cleavage furrow. Note=Tightly associated with both actin filaments and plasma membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SVIL Gene COMPARTMENTS Subcellular localization image for SVIL gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002102 podosome IEA --
GO:0005634 nucleus IDA 12711699
GO:0005737 cytoplasm IDA 12711699
GO:0005886 plasma membrane IDA 12711699
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with SVIL: view

Pathways & Interactions for SVIL Gene

genes like me logo Genes that share pathways with SVIL: view

Pathways by source for SVIL Gene

1 BioSystems pathway for SVIL Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007519 skeletal muscle tissue development IMP 12711699
GO:0032467 positive regulation of cytokinesis ISS --
genes like me logo Genes that share ontologies with SVIL: view

No data available for SIGNOR curated interactions for SVIL Gene

Drugs & Compounds for SVIL Gene

(1) Drugs for SVIL Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 453
genes like me logo Genes that share compounds with SVIL: view

Transcripts for SVIL Gene

Unigene Clusters for SVIL Gene

Supervillin:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SVIL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SVIL Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^
SP1: - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15: -
SP16:
SP17:

ExUns: 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32 ^ 33 ^ 34
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11: -
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SVIL Gene

GeneLoc Exon Structure for
SVIL
ECgene alternative splicing isoforms for
SVIL

Expression for SVIL Gene

mRNA expression in normal human tissues for SVIL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SVIL Gene

This gene is overexpressed in Muscle - Skeletal (x12.7) and Colon - Sigmoid (x5.5).

Protein differential expression in normal tissues from HIPED for SVIL Gene

This gene is overexpressed in Urinary Bladder (17.6) and Colon (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SVIL Gene



SOURCE GeneReport for Unigene cluster for SVIL Gene Hs.499209

mRNA Expression by UniProt/SwissProt for SVIL Gene

O95425-SVIL_HUMAN
Tissue specificity: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland. Isoform 1 (archvillin) is muscle specific.
genes like me logo Genes that share expression patterns with SVIL: view

Protein tissue co-expression partners for SVIL Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SVIL Gene

This gene was present in the common ancestor of animals.

Orthologs for SVIL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SVIL 35
  • 83.79 (n)
  • 86.69 (a)
SVIL 36
  • 80 (a)
OneToMany
SVIL 36
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SVIL 35
  • 84.06 (n)
  • 84.63 (a)
SVIL 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Svil 35
  • 80.79 (n)
  • 82.68 (a)
Svil 16
Svil 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SVIL 35
  • 99.29 (n)
  • 99.37 (a)
SVIL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Svil 35
  • 81.03 (n)
  • 82.36 (a)
oppossum
(Monodelphis domestica)
Mammalia SVIL 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SVIL 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves SVIL 35
  • 70.19 (n)
  • 70.24 (a)
SVIL 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SVIL 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16538 35
svil 35
  • 66.73 (n)
  • 69.23 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.11428 35
svila 35
  • 63.29 (n)
  • 65.58 (a)
SVIL (2 of 3) 36
  • 44 (a)
OneToMany
svila 36
  • 59 (a)
OneToMany
svilb 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1141 37
  • 38 (a)
CG33232 35
  • 49.23 (n)
  • 40.44 (a)
CG33232 36
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007181 35
  • 36.38 (n)
  • 24.73 (a)
worm
(Caenorhabditis elegans)
Secernentea C10H11.1 37
  • 25 (a)
viln-1 36
  • 25 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for SVIL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SVIL Gene

ENSEMBL:
Gene Tree for SVIL (if available)
TreeFam:
Gene Tree for SVIL (if available)

Paralogs for SVIL Gene

Paralogs for SVIL Gene

(6) SIMAP similar genes for SVIL Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SVIL Gene

genes like me logo Genes that share paralogs with SVIL: view

Variants for SVIL Gene

Sequence variations from dbSNP and Humsavar for SVIL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs255388 -- 29,697,540(+) TGAAA(C/T)ATGTG intron-variant
rs754207 -- 29,683,294(+) aaggg(A/G)ttgtg intron-variant
rs754865 -- 29,494,763(+) TGGGA(A/G)TCCCC intron-variant
rs877916 -- 29,528,554(+) ggcaa(C/T)atggc intron-variant
rs913035 -- 29,529,675(+) TATAG(A/C)CAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SVIL Gene

Variant ID Type Subtype PubMed ID
nsv519798 CNV Loss 19592680
nsv6210 CNV Loss 18451855
nsv6221 CNV Insertion 18451855
nsv831819 CNV Loss 17160897
esv1993198 CNV Deletion 18987734
esv2734961 CNV Deletion 23290073
esv1599217 CNV Deletion 17803354
esv2734972 CNV Deletion 23290073
nsv528427 CNV Loss 19592680
esv2678748 CNV Deletion 23128226
nsv24186 CNV Loss 16902084
nsv519699 CNV Loss 19592680
esv1019439 CNV Insertion 17803354

Variation tolerance for SVIL Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.31; 94.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SVIL Gene

HapMap Linkage Disequilibrium report
SVIL
Human Gene Mutation Database (HGMD)
SVIL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SVIL Gene

Disorders for SVIL Gene

MalaCards: The human disease database

(1) MalaCards diseases for SVIL Gene - From: DISEASES

Disorder Aliases PubMed IDs
androgenic alopecia
  • androgenetic alopecia
- elite association
Search SVIL in MalaCards View complete list of genes associated with diseases

Relevant External Links for SVIL

Genetic Association Database (GAD)
SVIL
Human Genome Epidemiology (HuGE) Navigator
SVIL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SVIL
genes like me logo Genes that share disorders with SVIL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SVIL Gene

Publications for SVIL Gene

  1. The membrane-associated protein, supervillin, accelerates F-actin-dependent rapid integrin recycling and cell motility. (PMID: 20331534) Fang Z. … Luna E.J. (Traffic 2010) 23 67
  2. How to arm a supervillin: designing F-actin binding activity into supervillin headpiece. (PMID: 19683541) Brown J.W. … McKnight C.J. (J. Mol. Biol. 2009) 23 67
  3. Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency. (PMID: 19109420) Crowley J.L. … Luna E.J. (Mol. Biol. Cell 2009) 23 67
  4. Supervillin slows cell spreading by facilitating myosin II activation at the cell periphery. (PMID: 17925381) Takizawa N. … Luna E.J. (J. Cell Sci. 2007) 23 67
  5. Supervillin modulation of focal adhesions involving TRIP6/ZRP-1. (PMID: 16880273) Takizawa N. … Luna E.J. (J. Cell Biol. 2006) 23 67

Products for SVIL Gene

Sources for SVIL Gene

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