• Gene id: 6840

Gene Summary

• Gene Symbol: SVIL   Gene   UCSC   Ensembl
• Gene name: supervillin
• Alternate names: supervillin, archvillin, membrane-associated F-actin binding protein p205, p205/p250,
• Gene location: 10p11.23 (29736935: 29457337)     Exons: 47     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 604126

Protein Summary

• Protein general information: O95425  
  • Name: Supervillin (Archvillin) (p205/p250)
  • Length: 2214  
  • Mass: 247746
  • Tissue specificity: Expressed in many tissues. Most abundant in muscle, bone marrow, thyroid gland and salivary gland. Isoform 1 (archvillin) is muscle specific. {ECO
• Sequence:

  MKRKERIARRLEGIENDTQPILLQSCTGLVTHRLLEEDTPRYMRASDPASPHIGRSNEEEETSDSSLEKQTRSKY
  CTETSGVHGDSPYGSGTMDTHSLESKAERIARYKAERRRQLAEKYGLTLDPEADSEYLSRYTKSRKEPDAVEKRG
  GKSDKQEESSRDASSLYPGTETMGLRTCAGESKDYALHVGDGSSDPEVLLNIENQRRGQELSATRQAHDLSPAAE
  SSSTFSFSGRDSSFTEVPRSPKHAHSSSLQQAASRSPSFGDPQLSPEARPSTGKPKHEWFLQKDSEGDTPSLINW
  PSRVKVREKLVKEESARNSPELASESVTQRRHQPAPVHYVSFQSEHSAFDRVPSKAAGSTRQPIRGYVQPADTGH
  TAKLVTPETPENASECSWVASATQNVPKPPSLTVLEGDGRDSPVLHVCESKAEEEEGEGEGEEKEEDVCFTEALE
  QSKKTLLALEGDGLVRSPEDPSRNEDFGKPAVSTVTLEHQKELENVAQPPQAPHQPTERTGRSEMVLYIQSEPVS
  QDAKPTGHNREASKKRKVRTRSLSDFTGPPQLQALKYKDPASRRELELPSSKTEGPYGEISMLDTKVSVAQLRSA
  FLASANACRRPELKSRVERSAEGPGLPTGVERERGSRKPRRYFSPGESRKTSERFRTQPITSAERKESDRCTSHS
  ETPTVDDEEKVDERAKLSVAAKRLLFREMEKSFDEQNVPKRRSRNTAVEQRLRRLQDRSLTQPITTEEVVIAATE
  PIPASCSGGTHPVMARLPSPTVARSAVQPARLQASAHQKALAKDQTNEGKELAEQGEPDSSTLSLAEKLALFNKL
  SQPVSKAISTRNRIDTRQRRMNARYQTQPVTLGEVEQVQSGKLIPFSPAVNTSVSTVASTVAPMYAGDLRTKPPL
  DHNASATDYKFSSSIENSDSPVRSILKSQAWQPLVEGSENKGMLREYGETESKRALTGRDSGMEKYGSFEEAEAS
  YPILNRAREGDSHKESKYAVPRRGSLERANPPITHLGDEPKEFSMAKMNAQGNLDLRDRLPFEEKVEVENVMKRK
  FSLRAAEFGEPTSEQTGTAAGKTIAQTTAPVSWKPQDSSEQPQEKLCKNPCAMFAAGEIKTPTGEGLLDSPSKTM
  SIKERLALLKKSGEEDWRNRLSRRQEGGKAPASSLHTQEAGRSLIKKRVTESRESQMTIEERKQLITVREEAWKT
  RGRGAANDSTQFTVAGRMVKKGLASPTAITPVASPICGKTRGTTPVSKPLEDIEARPDMQLESDLKLDRLETFLR
  RLNNKVGGMHETVLTVTGKSVKEVMKPDDDETFAKFYRSVDYNMPRSPVEMDEDFDVIFDPYAPKLTSSVAEHKR
  AVRPKRRVQASKNPLKMLAAREDLLQEYTEQRLNVAFMESKRMKVEKMSSNSNFSEVTLAGLASKENFSNVSLRS
  VNLTEQNSNNSAVPYKRLMLLQIKGRRHVQTRLVEPRASALNSGDCFLLLSPHCCFLWVGEFANVIEKAKASELA
  TLIQTKRELGCRATYIQTIEEGINTHTHAAKDFWKLLGGQTSYQSAGDPKEDELYEAAIIETNCIYRLMDDKLVP
  DDDYWGKIPKCSLLQPKEVLVFDFGSEVYVWHGKEVTLAQRKIAFQLAKHLWNGTFDYENCDINPLDPGECNPLI
  PRKGQGRPDWAIFGRLTEHNETILFKEKFLDWTELKRSNEKNPGELAQHKEDPRTDVKAYDVTRMVSMPQTTAGT
  ILDGVNVGRGYGLVEGHDRRQFEITSVSVDVWHILEFDYSRLPKQSIGQFHEGDAYVVKWKFMVSTAVGSRQKGE
  HSVRAAGKEKCVYFFWQGRHSTVSEKGTSALMTVELDEERGAQVQVLQGKEPPCFLQCFQGGMVVHSGRREEEEE
  NVQSEWRLYCVRGEVPVEGNLLEVACHCSSLRSRTSMVVLNVNKALIYLWHGCKAQAHTKEVGRTAANKIKEQCP
  LEAGLHSSSKVTIHECDEGSEPLGFWDALGRRDRKAYDCMLQDPGSFNFAPRLFILSSSSGDFAATEFVYPARAP
  SVVSSMPFLQEDLYSAPQPALFLVDNHHEVYLWQGWWPIENKITGSARIRWASDRKSAMETVLQYCKGKNLKKPA
  PKSYLIHAGLEPLTFTNMFPSWEHREDIAEITEMDTEVSNQITLVEDVLAKLCKTIYPLADLLARPLPEGVDPLK
  LEIYLTDEDFEFALDMTRDEYNALPAWKQVNLKKAKGLF

• Structural information:
  • Protein Domains: (2151..221-)
    (/note="HP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00595"-)
  • Interpro: IPR029006  IPR007123  IPR015628  IPR007122  IPR003128   IPR036886  
  • Prosite: PS51089
  • PDB: 2K6M 2K6N
  • PDBsum: 2K6M 2K6N
  • STRING: ENSP00000348128
• Other Databases: GeneCards:  SVIL  Malacards:  SVIL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008154	actin polymerization or depolymerization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0036449	microtubule minus-end	ISS	cellular component
GO:0032154	cleavage furrow	ISS	cellular component
GO:0030496	midbody	ISS	cellular component
GO:0032467	positive regulation of cytokinesis	ISS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0002102	podosome	IEA	cellular component
GO:0071437	invadopodium	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0015629	actin cytoskeleton	NAS	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0007519	skeletal muscle tissue development	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray