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SVIL supervillin [ Homo sapiens (human) ]

Gene ID: 6840, updated on 6-Nov-2022

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
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Genomic context

See SVIL in Genome Data Viewer
Location:
10p11.23
Exon count:
42
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (29457338..29736936, complement)
110 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 SVIL antisense RNA 1 Neighboring gene patched domain containing 3 pseudogene 1 Neighboring gene uncharacterized LOC124902401 Neighboring gene small nucleolar RNA SNORD115 Neighboring gene microRNA 604 Neighboring gene Sharpr-MPRA regulatory region 354 Neighboring gene microRNA 938 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 2 Neighboring gene RNA, U6 small nuclear 908, pseudogene 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

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
PubMed 
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
PubMed 
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
PubMed 
involved_in actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in barbed-end actin filament capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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)

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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_001323599.2NP_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
    O95425, Q9H1R7
    UniProtKB/TrEMBL
    Q569J5
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)