SVIL supervillin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Supervillin promotes tumor angiogenesis in liver cancer.
Title: Supervillin promotes tumor angiogenesis in liver cancer.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Title: Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
SVIL regulates neuronal maturation by controlling LSD1+8a mediated histone H3K9 demethylation.
Title: A specific LSD1/KDM1A isoform regulates neuronal differentiation through H3K9 demethylation.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20487 (e-PCR)
- UniSTS:59915

RH93747 (e-PCR)
- UniSTS:87846

RH102220 (e-PCR)
- UniSTS:96554

RH41980 (e-PCR)
- UniSTS:26155

D10S1311E (e-PCR)
- UniSTS:151343

AFMB345WE9 (e-PCR)
- UniSTS:46905

A008M13 (e-PCR)
- UniSTS:42812

RH68411 (e-PCR)
- UniSTS:16199

RH69678 (e-PCR)
- UniSTS:70985

SHGC-149800 (e-PCR)
- UniSTS:177227

RH102520 (e-PCR)
- UniSTS:96854

G09305 (e-PCR)
- UniSTS:43371

RH93948 (e-PCR)
- UniSTS:91758

RH77761 (e-PCR)
- UniSTS:3466

A004A11 (e-PCR)
- UniSTS:60810

SGC38028 (e-PCR)
- UniSTS:12196

STS-R38291 (e-PCR)
- UniSTS:49828

SGC44521 (e-PCR)
- UniSTS:69807

SHGC-105709 (e-PCR)
- UniSTS:169411

RH44745 (e-PCR)
- UniSTS:75726

G17403 (e-PCR)
- UniSTS:8155

SGC32304 (e-PCR)
- UniSTS:1761

D10S1684 (e-PCR), detects polymorphism
- UniSTS:64997

D10S1276E (e-PCR)
- UniSTS:38126

SHGC-30724 (e-PCR)
- UniSTS:43250

D10S2195 (e-PCR)
- UniSTS:21240

SHGC-44521 (e-PCR)
- UniSTS:51197

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 more info	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

NG_033998.1 RefSeqGene

Range

105831..283464

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
NM_001323600.1 → NP_001310529.1 supervillin isoform 4

Status: REVIEWED

Source sequence(s)

AL158167, AL159170, AL160060
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
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