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SVIL supervillin [ Homo sapiens (human) ]

Gene ID: 6840, updated on 9-Dec-2018

Summary

Official Symbol
SVILprovided by HGNC
Official Full Name
supervillinprovided by HGNC
Primary source
HGNC:HGNC:11480
See related
Ensembl:ENSG00000197321 MIM:604126
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 Apr 4 07:08:55 2018

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, 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_021738.2NP_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, ENST00000355867.8
    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

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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