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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 (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 AVIL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 18639526 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IBA | 21873635 |
GO:0051015 | actin filament binding | IDA | 12711699 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002102 | podosome | IEA | -- |
GO:0005634 | nucleus | IDA | 12711699 |
GO:0005737 | cytoplasm | IEA,IDA | 12711699 |
GO:0005829 | cytosol | IDA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Coregulation of Androgen receptor activity |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | IEA | -- |
GO:0007519 | skeletal muscle tissue development | IMP | 12711699 |
GO:0008154 | actin polymerization or depolymerization | IBA | 21873635 |
GO:0032467 | positive regulation of cytokinesis | ISS | -- |
GO:0051014 | actin filament severing | IBA | 21873635 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SVIL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SVIL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SVIL 30 31 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Svil 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Svil 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SVIL 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SVIL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SVIL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SVIL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | svil 30 |
|
||
Str.16538 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | svila 30 31 |
|
OneToMany | |
svilb 31 |
|
OneToMany | |||
SVIL (2 of 3) 31 |
|
OneToMany | |||
Dr.11428 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG33232 30 31 |
|
OneToOne | |
CG1141 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007181 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | viln-1 31 |
|
OneToOne | |
C10H11.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708325 | Likely Benign: not provided | 29,462,267(-) | G/A | INTRON_VARIANT | |
709567 | Benign: not provided | 29,512,750(-) | C/T | SYNONYMOUS_VARIANT | |
710443 | Likely Benign: not provided | 29,480,776(-) | G/A | MISSENSE_VARIANT | |
712490 | Benign: not provided | 29,486,203(-) | A/C | MISSENSE_VARIANT | |
712586 | Likely Benign: not provided | 29,458,449(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
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 |
No disorders were found for SVIL Gene.