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    SVIL supervillin [ Homo sapiens (human) ]

    Gene ID: 6840, updated on 1-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SVIL in Genome Data Viewer
    Location:
    10p11.23
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (29457338..29736936, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (29488436..29767980, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001323599.2NP_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_001323600.1NP_001310529.1  supervillin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL158167, AL159170, AL160060
    3. NM_003174.3NP_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:17531788
      VHP; Villin headpiece domain
      cd11280
      Location:11371237
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:14531558
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:10161112
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:13201433
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:15751697
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    4. NM_021738.3NP_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:21792214
      VHP; Villin headpiece domain
      cd11280
      Location:15631663
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18791984
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14421538
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17461859
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20012123
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)