Human Gene SVIL (ENST00000375400.7) Description and Page Index
  Description: Homo sapiens supervillin (SVIL), transcript variant 1, mRNA. (from RefSeq NM_003174)
RefSeq Summary (NM_003174): 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].
Gencode Transcript: ENST00000375400.7
Gencode Gene: ENSG00000197321.14
Transcript (Including UTRs)
   Position: hg38 chr10:29,457,338-29,735,804 Size: 278,467 Total Exon Count: 36 Strand: -
Coding Region
   Position: hg38 chr10:29,458,247-29,555,058 Size: 96,812 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:29,457,338-29,735,804)mRNA (may differ from genome)Protein (1788 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIneXtProtOMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: SVIL_HUMAN
DESCRIPTION: RecName: Full=Supervillin; AltName: Full=Archvillin; AltName: Full=p205/p250;
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 adehesions involves binding to TRIP6 (By similarity).
SUBUNIT: Associates with F-actin. Interacts with NEB. Interacts with MYH9. Interacts with MYLK. Isoform 2 interacts with TRIP6. Isoform 2 interacts with DYNLT1 (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cell projection, invadopodium. Cell projection, podosome. Note=Tightly associated with both actin filaments and plasma membranes.
TISSUE SPECIFICITY: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland. Isoform 1 (archvillin) is muscle specific.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the villin/gelsolin family.
SIMILARITY: Contains 5 gelsolin-like repeats.
SIMILARITY: Contains 1 HP (headpiece) domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 197.49 RPKM in Muscle - Skeletal
Total median expression: 1340.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -117.50453-0.259 Picture PostScript Text
3' UTR -207.30909-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007122 - Gelsolin
IPR007123 - Gelsolin_dom
IPR015628 - Supervillin
IPR003128 - Villin_headpiece

Pfam Domains:
PF00626 - Gelsolin repeat
PF02209 - Villin headpiece domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2K6M
- NMR MuPIT

2K6N
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on O95425
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0051015 actin filament binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007519 skeletal muscle tissue development
GO:0032467 positive regulation of cytokinesis

Cellular Component:
GO:0002102 podosome
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0015629 actin cytoskeleton
GO:0016020 membrane
GO:0030054 cell junction
GO:0030496 midbody
GO:0032154 cleavage furrow
GO:0036449 microtubule minus-end
GO:0042995 cell projection
GO:0043034 costamere
GO:0071437 invadopodium


-  Descriptions from all associated GenBank mRNAs
  AL117410 - Homo sapiens mRNA; cDNA DKFZp586H1823 (from clone DKFZp586H1823).
AF051850 - Homo sapiens supervillin mRNA, complete cds.
AK304799 - Homo sapiens cDNA FLJ53285 complete cds, highly similar to Supervillin.
AF051851 - Homo sapiens supervillin mRNA, complete cds.
AF109135 - Homo sapiens archvillin (SVIL) mRNA, complete cds.
AK304720 - Homo sapiens cDNA FLJ53284 complete cds, highly similar to Supervillin.
JX467682 - Homo sapiens supervillin isoform 4 (SVIL) mRNA, complete cds.
BC172362 - Synthetic construct Homo sapiens clone IMAGE:100069056, MGC:199067 supervillin (SVIL) mRNA, encodes complete protein.
AK302077 - Homo sapiens cDNA FLJ60365 complete cds, highly similar to Supervillin.
AK310272 - Homo sapiens cDNA, FLJ17314.
AK307640 - Homo sapiens cDNA, FLJ97588.
BC092440 - Homo sapiens supervillin, mRNA (cDNA clone IMAGE:30325057), complete cds.
BX648589 - Homo sapiens mRNA; cDNA DKFZp686A17191 (from clone DKFZp686A17191).
JD236025 - Sequence 217049 from Patent EP1572962.
JD510530 - Sequence 491554 from Patent EP1572962.
JD095434 - Sequence 76458 from Patent EP1572962.
JD163055 - Sequence 144079 from Patent EP1572962.
JD281043 - Sequence 262067 from Patent EP1572962.
JD350248 - Sequence 331272 from Patent EP1572962.
JD260807 - Sequence 241831 from Patent EP1572962.
JD309334 - Sequence 290358 from Patent EP1572962.
JD367817 - Sequence 348841 from Patent EP1572962.
JD422999 - Sequence 404023 from Patent EP1572962.
JD187654 - Sequence 168678 from Patent EP1572962.
JD428976 - Sequence 410000 from Patent EP1572962.
JD181651 - Sequence 162675 from Patent EP1572962.
JD477614 - Sequence 458638 from Patent EP1572962.
JD042399 - Sequence 23423 from Patent EP1572962.
JD453590 - Sequence 434614 from Patent EP1572962.
JD528427 - Sequence 509451 from Patent EP1572962.
JD091344 - Sequence 72368 from Patent EP1572962.
AK130535 - Homo sapiens cDNA FLJ27025 fis, clone SLV07343.
JD560360 - Sequence 541384 from Patent EP1572962.
JD496877 - Sequence 477901 from Patent EP1572962.
JD339484 - Sequence 320508 from Patent EP1572962.
JD256697 - Sequence 237721 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: D3DRW9, NM_003174, O60611, O60612, O95425, Q5VZK5, Q5VZK6, Q9H1R7, SVIL_HUMAN, uc001iuu.1, uc001iuu.2
UCSC ID: uc001iuu.2
RefSeq Accession: NM_003174
Protein: O95425 (aka SVIL_HUMAN)
CCDS: CCDS7163.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.