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
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.
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.
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.