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    SVIL supervillin [ Homo sapiens (human) ]

    Gene ID: 6840, updated on 26-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
    • 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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