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    SVIL supervillin [ Homo sapiens (human) ]

    Gene ID: 6840, updated on 4-Nov-2018

    Summary

    Official Symbol
    SVILprovided by HGNC
    Official Full Name
    supervillinprovided by HGNC
    Primary source
    HGNC:HGNC:11480
    See related
    Ensembl:ENSG00000197321 MIM:604126; Vega:OTTHUMG00000017882
    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
    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

    Genomic context

    See SVIL in Genome Data Viewer
    Location:
    10p11.23
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (29457338..29737001, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (29746274..30025864, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376474 Neighboring gene SVIL antisense RNA 1 Neighboring gene patched domain containing 3 pseudogene 1 Neighboring gene microRNA 604 Neighboring gene microRNA 938 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 2 Neighboring gene RNA, U6 small nuclear 908, pseudogene 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686A17191

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cytokinesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    actin cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cleavage furrow ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    costamere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    focal adhesion HDA PubMed 
    invadopodium IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule minus-end ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    midbody ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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)

    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
      5001..283454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001323599.1NP_001310528.1  supervillin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL158167, AL159170, AL160060
    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, OTTHUMP00000019388, ENST00000375400.7, OTTHUMT00000047393
      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_021738.2NP_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, AL160060, BC092440, BX457194
      Consensus CDS
      CCDS7164.1
      UniProtKB/Swiss-Prot
      O95425
      UniProtKB/TrEMBL
      Q569J5
      Related
      ENSP00000348128.4, OTTHUMP00000019389, ENST00000355867.8, OTTHUMT00000047395
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

      Range
      29457338..29737001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252570.2XP_005252627.1  supervillin isoform X7

      See identical proteins and their annotated locations for XP_005252627.1

      Conserved Domains (6) summary
      smart00153
      Location:22212256
      VHP; Villin headpiece domain
      cd11280
      Location:16051705
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19212026
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14841580
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17881901
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20432165
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    2. XM_005252571.4XP_005252628.1  supervillin isoform X7

      See identical proteins and their annotated locations for XP_005252628.1

      Conserved Domains (6) summary
      smart00153
      Location:22212256
      VHP; Villin headpiece domain
      cd11280
      Location:16051705
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19212026
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14841580
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17881901
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20432165
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    3. XM_024448138.1XP_024303906.1  supervillin isoform X1

      Conserved Domains (6) summary
      smart00153
      Location:22992334
      VHP; Villin headpiece domain
      cd11280
      Location:16831783
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19992104
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:15621658
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:18661979
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:21212243
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    4. XM_011519634.1XP_011517936.1  supervillin isoform X7

      See identical proteins and their annotated locations for XP_011517936.1

      Conserved Domains (6) summary
      smart00153
      Location:22212256
      VHP; Villin headpiece domain
      cd11280
      Location:16051705
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19212026
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14841580
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17881901
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20432165
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    5. XM_011519635.2XP_011517937.1  supervillin isoform X7

      See identical proteins and their annotated locations for XP_011517937.1

      Conserved Domains (6) summary
      smart00153
      Location:22212256
      VHP; Villin headpiece domain
      cd11280
      Location:16051705
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19212026
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14841580
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17881901
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20432165
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    6. XM_005252573.3XP_005252630.1  supervillin isoform X7

      See identical proteins and their annotated locations for XP_005252630.1

      Conserved Domains (6) summary
      smart00153
      Location:22212256
      VHP; Villin headpiece domain
      cd11280
      Location:16051705
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:19212026
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14841580
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17881901
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20432165
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    7. XM_024448148.1XP_024303916.1  supervillin isoform X12

      Conserved Domains (5) summary
      smart00153
      Location:17951830
      VHP; Villin headpiece domain
      cd11280
      Location:11791279
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:14951600
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:10581154
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:13621475
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    8. XM_024448147.1XP_024303915.1  supervillin isoform X11

      Conserved Domains (6) summary
      smart00153
      Location:18271862
      VHP; Villin headpiece domain
      cd11280
      Location:12111311
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:15271632
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:10901186
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:13941507
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:16491771
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    9. XM_024448140.1XP_024303908.1  supervillin isoform X3

      Conserved Domains (6) summary
      smart00153
      Location:21942229
      VHP; Villin headpiece domain
      cd11280
      Location:15781678
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18941999
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14571553
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17611874
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20162138
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    10. XM_024448146.1XP_024303914.1  supervillin isoform X10

      Conserved Domains (5) summary
      smart00153
      Location:18541889
      VHP; Villin headpiece domain
      cd11280
      Location:12381338
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:15541659
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:11171213
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:14211534
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    11. XM_024448145.1XP_024303913.1  supervillin isoform X9

      Conserved Domains (5) summary
      smart00153
      Location:18791914
      VHP; Villin headpiece domain
      cd11280
      Location:12631363
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:15791684
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:11421238
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:14461559
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    12. XM_024448144.1XP_024303912.1  supervillin isoform X8

      Conserved Domains (6) summary
      smart00153
      Location:19111946
      VHP; Villin headpiece domain
      cd11280
      Location:12951395
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:16111716
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:11741270
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:14781591
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:17331855
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    13. XM_024448142.1XP_024303910.1  supervillin isoform X5

      Conserved Domains (6) summary
      smart00153
      Location:21642199
      VHP; Villin headpiece domain
      cd11280
      Location:15481648
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18641969
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14271523
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17311844
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:19862108
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    14. XM_024448143.1XP_024303911.1  supervillin isoform X6

      Related
      ENSP00000364547.3, ENST00000375398.6
      Conserved Domains (6) summary
      smart00153
      Location:21472182
      VHP; Villin headpiece domain
      cd11280
      Location:15311631
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18471952
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14101506
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17141827
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:19692091
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    15. XM_024448141.1XP_024303909.1  supervillin isoform X4

      Conserved Domains (6) summary
      smart00153
      Location:21892224
      VHP; Villin headpiece domain
      cd11280
      Location:15731673
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18891994
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14521548
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17561869
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20112133
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    16. XM_024448139.1XP_024303907.1  supervillin isoform X2

      Conserved Domains (6) summary
      smart00153
      Location:21952230
      VHP; Villin headpiece domain
      cd11280
      Location:15791679
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:18952000
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:14581554
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:17621875
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      cl15697
      Location:20172139
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains
    17. XM_024448149.1XP_024303917.1  supervillin isoform X13

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