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SVIL supervillin [ Homo sapiens (human) ]

Gene ID: 6840, updated on 2-Nov-2024

Summary

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Official Symbol
SVILprovided by HGNC
Official Full Name
supervillinprovided by HGNC
Primary source
HGNC:HGNC:11480
See related
Ensembl:ENSG00000197321 MIM:604126; AllianceGenome:HGNC:11480
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MFM10
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]
Expression
Broad expression in heart (RPKM 40.9), esophagus (RPKM 29.0) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See SVIL in Genome Data Viewer
Location:
10p11.23
Exon count:
42
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (29457338..29736936, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (29488436..29767980, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (29746267..30025865, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3195 Neighboring gene SVIL antisense RNA 1 Neighboring gene patched domain containing 3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:29761791-29762353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:29762354-29762917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29766445-29766944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:29767812-29768343 Neighboring gene NANOG hESC enhancer GRCh37_chr10:29785287-29785788 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:29790285-29791484 Neighboring gene uncharacterized LOC124902401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29805146-29805646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29827039-29827540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29827541-29828040 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:29851081-29852280 Neighboring gene uncharacterized LOC124902571 Neighboring gene microRNA 604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29872959-29873460 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:29874238-29874738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:29873461-29873960 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:29874739-29875239 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:29907005-29907635 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:29907636-29908265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:29910018-29910768 Neighboring gene Sharpr-MPRA regulatory region 354 Neighboring gene microRNA 938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:29927951-29928452 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:29947465-29948664 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:29956022-29956579 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:29977089-29977707 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 2 Neighboring gene RNA, U6 small nuclear 908, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:30024395-30024895 Neighboring gene Sharpr-MPRA regulatory region 9997 Neighboring gene uncharacterized LOC105376475 Neighboring gene uncharacterized LOC105376476

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Supervillin Contributes to LPS-induced Inflammatory Response in THP-1 Cell-derived Macrophages. Zhou J, et al. Inflammation, 2022 Feb. PMID 34480249
  2. Cloning, characterization, and chromosomal localization of human superillin (SVIL). Pope RK, et al. Genomics, 1998 Sep 15. PMID 9867483
  3. Domain analysis of supervillin, an F-actin bundling plasma membrane protein with functional nuclear localization signals. Wulfkuhle JD, et al. J Cell Sci, 1999 Jul. PMID 10362542
  4. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Hedberg-Oldfors C, et al. Brain, 2020 Aug 1. PMID 32779703, Free PMC Article
  5. A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene. Zhang Z, et al. Mol Med Rep, 2020 Sep. PMID 32582973

See all (126) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Supervillin Contributes to LPS-induced Inflammatory Response in THP-1 Cell-derived Macrophages.
    Title: Supervillin Contributes to LPS-induced Inflammatory Response in THP-1 Cell-derived Macrophages.
  2. Molecular basis of functional exchangeability between ezrin and other actin-membrane associated proteins during cytokinesis.
    Title: Molecular basis of functional exchangeability between ezrin and other actin-membrane associated proteins during cytokinesis.
  3. A twinpair analysis indicates congenital scoliosis is associated with allelespecific methylation in the SVIL gene.
    Title: A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene.
  4. Supervillin promotes tumor angiogenesis in liver cancer.
    Title: Supervillin promotes tumor angiogenesis in liver cancer.
  5. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
    Title: Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
  6. SVIL regulates neuronal maturation by controlling LSD1+8a mediated histone H3K9 demethylation.
    Title: A specific LSD1/KDM1A isoform regulates neuronal differentiation through H3K9 demethylation.
  7. These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus.
    Title: Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
  8. Supervillin concentrates activated and total myosin II at the furrow, and simultaneous knockdown of supervillin and anillin additively increases cell division failure.
    Title: Supervillin binding to myosin II and synergism with anillin are required for cytokinesis.
  9. An actin/myosin-II-binding protein, supervillin (SVIL), is a substrate of PLK1.
    Title: The role of PLK1-phosphorylated SVIL in myosin II activation and cytokinetic furrowing.
  10. adhesion regulatory protein supervillin increases cell survival by decreasing levels of the tumor suppressor protein p53 and downstream target genes
    Title: Supervillin-mediated suppression of p53 protein enhances cell survival.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myofibrillar myopathy 10
MedGen: C5436656 OMIM: 619040 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686A17191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin filament binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament severing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of cytokinesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in actin cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cleavage furrow ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in costamere IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in focal adhesion HDA PubMed 
located_in microtubule minus-end ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in midbody ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in podosome IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
supervillin
Names
archvillin
membrane-associated F-actin binding protein p205
p205/p250

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033998.1 RefSeqGene

    Range
    105831..283464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001323599.2 → NP_001310528.1  supervillin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL158167, AL159170, AL160060
    Consensus CDS
    CCDS91234.1
    UniProtKB/TrEMBL
    A0A6I8PIX7
    Related
    ENSP00000501521.1, ENST00000674475.1

  2. NM_001323600.1 → NP_001310529.1  supervillin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL158167, AL159170, AL160060

  3. NM_003174.3 → NP_003165.2  supervillin isoform 1

    See identical proteins and their annotated locations for NP_003165.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is alternatively spliced in the 5' portion of the gene, resulting in the shorter isoform (1) which has a different amino-terminus compared to isoform 2.
    Source sequence(s)
    AF051850, AF051851, AI028650, AL160060, BC092440, BX457194
    Consensus CDS
    CCDS7163.1
    UniProtKB/Swiss-Prot
    O95425
    UniProtKB/TrEMBL
    Q569J5
    Related
    ENSP00000364549.3, ENST00000375400.7
    Conserved Domains (6) summary
    smart00153
    Location:1753 → 1788
    VHP; Villin headpiece domain
    cd11280
    Location:1137 → 1237
    gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
    cd11288
    Location:1453 → 1558
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:1016 → 1112
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:1320 → 1433
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    cl15697
    Location:1575 → 1697
    ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

  4. NM_021738.3 → NP_068506.2  supervillin isoform 2

    See identical proteins and their annotated locations for NP_068506.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is alternatively spliced in the 5' portion of the gene, resulting in the longer, muscle-specific isoform (2) which has a different amino-terminus compared to isoform 1.
    Source sequence(s)
    AF051850, AF051851, AF109135, AI028650, AL158167, AL160060, BC092440, BX457194
    Consensus CDS
    CCDS7164.1
    UniProtKB/Swiss-Prot
    D3DRW9, M1J557, O60611, O60612, O95425, Q5VZK5, Q5VZK6, Q9H1R7
    Related
    ENSP00000348128.4, ENST00000355867.9
    Conserved Domains (6) summary
    smart00153
    Location:2179 → 2214
    VHP; Villin headpiece domain
    cd11280
    Location:1563 → 1663
    gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
    cd11288
    Location:1879 → 1984
    gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
    cd11289
    Location:1442 → 1538
    gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
    cd11293
    Location:1746 → 1859
    gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    cl15697
    Location:2001 → 2123
    ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    29457338..29736936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    29488436..29767980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95425.2 GenPept UniProtKB/Swiss-Prot:O95425

Gene LinkOut

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