SVIL - supervillin Gene
Also Known as MFM10
Species: Homo sapiens
About SVIL
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 |
| Molecular Function GO Annotation | Evidence | References | 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 | References | Source |
|---|---|---|---|
| involved in skeletal muscle tissue development |
IMP
IMP: Inferred from mutant phenotype
|
12711699 | GOA |
| Cellular Component GO Annotation | Evidence | References | 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 |
SVIL Protein Structure
Gelsolin: Gelsolin repeat (1460 - 1504)
VHP: Villin headpiece domain (2179 - 2214)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2214 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
supervillin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myofibrillar Myopathy 10 |
|
|
| Myofibrillar Myopathy |
|
|
| Myopathy |
|
|
| Frontometaphyseal Dysplasia |
|
|
| Scoliosis |
|
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 |
| Others | SVIL | NCBI |