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SVIL Gene(Protein Coding)

Supervillin

GCID:
GC10M029844
GIFtS:
49
Genes Participants
UDN Logo

Aliases for SVIL Gene

Aliases for SVIL Gene

  • Supervillin 2 3 3 5
  • 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

  • GC10M029481
  • GC10M029896
  • GC10M029750
  • GC10M029786
  • GC10M029841
  • GC10M029485
  • GC10M029650
  • GC10M029649
  • GC10M029676
  • GC10M029762

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. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]

GeneCards Summary for SVIL Gene

SVIL (Supervillin) is a Protein Coding gene. Among its related pathways are Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is FLII.

UniProtKB/Swiss-Prot for SVIL Gene

  • Isoform 1: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). 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 (PubMed:19109420).

  • 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

Additional gene information for SVIL Gene

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

Genomics for SVIL Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SVIL Gene

Promoters and enhancers for SVIL Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10I029632 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 555.9 +102.0 101963 4.8 ARID4B MZF1 FEZF1 BMI1 RAD21 RFX5 ZNF121 GLIS2 SCRT2 ATF7 SVIL GC10M029993 GC10M030002
GH10I029734 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 555.9 +0.4 383 5 CLOCK ARID4B SIN3A GLI4 ZNF2 ZBTB7B ZNF48 ZNF121 GLIS2 ZNF213 SVIL GC10P029713
GH10I029582 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 35.6 +150.0 149982 8.9 PKNOX1 CLOCK NEUROD1 RAD21 SCRT2 ZNF143 FOS RCOR1 EGR2 SMARCA5 SVIL MIR604 CKS1BP2 RNU6-908P SVIL-AS1 ENSG00000212411 MIR938
GH10I029679 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 32.8 +55.2 55232 4.5 ZBTB11 ZSCAN4 MAX ZBTB40 ZIC2 GABPA GATA3 POLR2A GABPB1 ZNF600 SVIL RNU6-908P MIR604 GC10P029701 GC10M029993
GH10I029687 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +48.4 48369 3.1 MEIS2 PKNOX1 USF1 JUN EBF1 ZIC2 HIC1 ZBTB48 PRDM10 FOSL2 SVIL RNU6-908P GC10P029701 GC10M029993
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SVIL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SVIL gene promoter:

Genomic Locations for SVIL Gene

Genomic Locations for SVIL Gene
chr10:29,457,338-29,736,935
(GRCh38/hg38)
Size:
279,598 bases
Orientation:
Minus strand
chr10:29,746,267-30,025,710
(GRCh37/hg19)

Genomic View for SVIL Gene

Genes around SVIL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SVIL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SVIL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SVIL Gene

Proteins for SVIL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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 (By similarity). Interacts with NEB (By similarity). Interacts with MYH9 (By similarity). Interacts with MYLK (By similarity). Isoform 2: Interacts with TRIP6 (By similarity). Isoform 2: Interacts with DYNLT1 (By similarity). Isoform 2: 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

Protein Expression for SVIL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SVIL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SVIL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SVIL Gene

Domains & Families for SVIL Gene

Gene Families for SVIL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SVIL Gene

InterPro:
Blocks:
ProtoNet:

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.
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).
Family:
  • Belongs to the villin/gelsolin family.
genes like me logo Genes that share domains with SVIL: view

Function for SVIL Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:
Isoform 1: Forms a high-affinity link between the actin cytoskeleton and the membrane. Is among the first costameric proteins to assemble during myogenesis and it contributes to myogenic membrane structure and differentiation (PubMed:12711699). 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 (PubMed:19109420).
UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for SVIL Gene

Gene Ontology (GO) - Molecular Function for SVIL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
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

CRISPR Products

miRNA for SVIL Gene

miRTarBase miRNAs that target SVIL

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SVIL gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

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,IEA 12711699
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
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

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

Products:

  1. Drug

(1) Drugs for SVIL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SVIL: view

Transcripts for SVIL Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SVIL Gene

(25) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(223) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SVIL Gene

Supervillin:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SVIL Gene

mRNA expression in normal human tissues for SVIL Gene
mRNA expression by GTEx for SVIL GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SVIL Gene



Protein tissue co-expression partners for SVIL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SVIL Gene:

SVIL

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.

Evidence on tissue expression from TISSUES for SVIL Gene

  • Kidney(4.4)
  • Liver(4.2)
  • Blood(4.1)
  • Muscle(3.3)
  • Gall bladder(2.7)
  • Heart(2.4)
  • Thyroid gland(2.3)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SVIL: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SVIL Gene

Orthologs for SVIL Gene

This gene was present in the common ancestor of animals.

Orthologs for SVIL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SVIL 33 34
  • 99.29 (n)
dog
(Canis familiaris)
 Mammalia SVIL 33 34
  • 84.06 (n)
cow
(Bos Taurus)
 Mammalia SVIL 33 34 34
  • 83.79 (n)
rat
(Rattus norvegicus)
 Mammalia Svil 33
  • 81.03 (n)
mouse
(Mus musculus)
 Mammalia Svil 33 16 34
  • 80.79 (n)
oppossum
(Monodelphis domestica)
 Mammalia SVIL 34
  • 70 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SVIL 34
  • 70 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SVIL 33 34
  • 70.19 (n)
lizard
(Anolis carolinensis)
 Reptilia SVIL 34
  • 68 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia svil 33
  • 66.73 (n)
Str.16538 33
zebrafish
(Danio rerio)
 Actinopterygii svila 33 34
  • 63.29 (n)
svilb 34
  • 51 (a)
 OneToMany
SVIL (2 of 3) 34
  • 44 (a)
 OneToMany
Dr.11428 33
fruit fly
(Drosophila melanogaster)
 Insecta CG33232 33 34
  • 49.23 (n)
CG1141 35
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007181 33
  • 36.38 (n)
worm
(Caenorhabditis elegans)
 Secernentea C10H11.1 35
  • 25 (a)
viln-1 34
  • 25 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 38 (a)
 OneToOne
Species where no ortholog for SVIL was found in the sources mined by GeneCards:
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SVIL Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs767673427 likely-pathogenic, Abnormality of brain morphology 29,499,154(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000007732 -- 29,551,681(-) A/G intron_variant
rs1000015949 -- 29,736,328(-) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000025214 -- 29,731,112(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000069989 -- 29,615,685(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv1019439 CNV insertion 17803354
esv1599217 CNV deletion 17803354
esv1993198 CNV deletion 18987734
esv2678748 CNV deletion 23128226
esv2734961 CNV deletion 23290073
esv2734972 CNV deletion 23290073
esv2858680 CNV duplication 24192839
esv3546096 CNV deletion 23714750
esv3622775 CNV loss 21293372
esv3622777 CNV loss 21293372
nsv1038080 CNV gain 25217958
nsv1129323 OTHER inversion 24896259
nsv1137891 CNV deletion 24896259
nsv1152229 CNV duplication 26484159
nsv24186 CNV deletion 16902084
nsv519699 CNV loss 19592680
nsv519798 CNV loss 19592680
nsv528427 CNV loss 19592680
nsv550323 CNV loss 21841781
nsv550324 CNV loss 21841781
nsv6210 CNV deletion 18451855
nsv6221 CNV insertion 18451855
nsv831819 CNV loss 17160897
nsv947800 CNV duplication 23825009
nsv947801 CNV duplication 23825009
nsv947805 CNV duplication 23825009
nsv947806 CNV duplication 23825009
nsv947807 CNV duplication 23825009
nsv958358 CNV deletion 24416366

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)

Additional Variant Information for SVIL Gene

Human Gene Mutation Database (HGMD)
SVIL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SVIL

SNP Genotyping and Copy Number Assay Products

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

Disorders for SVIL Gene

Additional Disease Information for SVIL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SVIL Gene.

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

Publications for SVIL Gene

  1. Supervillin reorganizes the actin cytoskeleton and increases invadopodial efficiency. (PMID: 19109420) Crowley JL … Luna EJ (Molecular biology of the cell 2009) 3 4 22 58
  2. How to arm a supervillin: designing F-actin binding activity into supervillin headpiece. (PMID: 19683541) Brown JW … McKnight CJ (Journal of molecular biology 2009) 3 4 22 58
  3. Archvillin, a muscle-specific isoform of supervillin, is an early expressed component of the costameric membrane skeleton. (PMID: 12711699) Oh SW … Luna EJ (Journal of cell science 2003) 3 4 22 58
  4. Cloning, characterization, and chromosomal localization of human superillin (SVIL). (PMID: 9867483) Pope RK … Luna EJ (Genomics 1998) 3 4 22 58
  5. Supervillin-mediated suppression of p53 protein enhances cell survival. (PMID: 23382381) Fang Z … Luna EJ (The Journal of biological chemistry 2013) 3 4 58

Products for SVIL Gene

Sources for SVIL Gene

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