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    svila supervillin a [ Danio rerio (zebrafish) ]

    Gene ID: 30112, updated on 9-Dec-2024

    Summary

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    Official Symbol
    svilaprovided by ZNC
    Official Full Name
    supervillin aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-990706-5
    See related
    Ensembl:ENSDARG00000055075 AllianceGenome:ZFIN:ZDB-GENE-990706-5
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    svil; sb:cb867; wu:fd05a09
    Summary
    Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in actin filament severing; actin polymerization or depolymerization; and barbed-end actin filament capping. Predicted to act upstream of or within cytoskeleton organization. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in several structures, including adaxial cell; cardiovascular system; musculature system; optic vesicle; and sensory system. Human ortholog(s) of this gene implicated in myofibrillar myopathy 10. Orthologous to human SVIL (supervillin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See svila in Genome Data Viewer
    Location:
    chromosome: 12
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 12 NC_007123.7 (23812531..23932576)
    105 previous assembly GRCz10 (GCF_000002035.5) 12 NC_007123.6 (23691312..23811357)

    Chromosome 12 - NC_007123.7Genomic Context describing neighboring genes Neighboring gene mitochondrial poly(A) polymerase Neighboring gene junctional cadherin 5 associated a Neighboring gene proteasome activator subunit 4b Neighboring gene ChaC, cation transport regulator homolog 2 (E. coli)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Prioritizing causal disease genes using unbiased genomic features. Deo RC, et al. Genome Biol, 2014 Dec 3. PMID 25633252, Free PMC Article
    2. Supervillin Is a Component of the Hair Cell's Cuticular Plate and the Head Plates of Organ of Corti Supporting Cells. Pollock LM, et al. PLoS One, 2016. PMID 27415442, Free PMC Article
    3. Molecular conservation of estrogen-response associated with cell cycle regulation, hormonal carcinogenesis and cancer in zebrafish and human cancer cell lines. Lam SH, et al. BMC Med Genomics, 2011 May 16. PMID 21575170, Free PMC Article
    4. Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions. Gallagher TL, et al. Dev Biol, 2011 Nov 15. PMID 21925157, Free PMC Article
    5. Identification of vasculature-specific genes by microarray analysis of Etsrp/Etv2 overexpressing zebrafish embryos. Wong KS, et al. Dev Dyn, 2009 Jul. PMID 19504456

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    supervillin a
    Names
    zmp:0000000648

    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.

    mRNA and Protein(s)

    1. NM_001035261.2 → NP_001030338.2  supervillin a isoform 2

      Status: VALIDATED

      Source sequence(s)
      CU914155, DQ227765
      UniProtKB/TrEMBL
      A0A8M1N7Y6, F1Q6K8, Q38HW9
      Related
      ENSDARP00000066330.4, ENSDART00000066331.7
      Conserved Domains (6) summary
      cd11280
      Location:1108 → 1208
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1424 → 1527
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:987 → 1083
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1291 → 1402
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:1722 → 1763
      VHP; Villin headpiece domain
      cl15697
      Location:1544 → 1665
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    2. NM_001430943.1 → NP_001417872.1  supervillin a isoform 1

      Status: VALIDATED

      Source sequence(s)
      BX005400, CU914155
      UniProtKB/TrEMBL
      A0A8M9QII8

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007123.7 Reference GRCz11 Primary Assembly

      Range
      23812531..23932576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_021480012.2 → XP_021335687.1  supervillin a isoform X1

      UniProtKB/TrEMBL
      A0A8M9PW23
      Conserved Domains (6) summary
      cd11280
      Location:1586 → 1686
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1902 → 2005
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:1465 → 1561
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1769 → 1880
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:2200 → 2241
      VHP; Villin headpiece domain
      cl15697
      Location:2022 → 2143
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    2. XM_021480014.2 → XP_021335689.1  supervillin a isoform X3

      UniProtKB/TrEMBL
      A0A8M9QE30
      Conserved Domains (6) summary
      cd11280
      Location:1553 → 1653
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1869 → 1972
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:1432 → 1528
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1736 → 1847
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:2167 → 2208
      VHP; Villin headpiece domain
      cl15697
      Location:1989 → 2110
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    3. XM_021480013.2 → XP_021335688.1  supervillin a isoform X2

      UniProtKB/TrEMBL
      A0A8M9Q864
      Conserved Domains (6) summary
      cd11280
      Location:1584 → 1684
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1900 → 2003
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:1463 → 1559
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1767 → 1878
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:2198 → 2239
      VHP; Villin headpiece domain
      cl15697
      Location:2020 → 2141
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    4. XM_021480015.2 → XP_021335690.1  supervillin a isoform X4

      UniProtKB/TrEMBL
      A0A8M9QMC6, Q38HW9
      Conserved Domains (6) summary
      cd11280
      Location:1264 → 1364
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1580 → 1683
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:1143 → 1239
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1447 → 1558
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:1878 → 1919
      VHP; Villin headpiece domain
      cl15697
      Location:1700 → 1821
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    5. XM_021480016.2 → XP_021335691.1  supervillin a isoform X5

      UniProtKB/TrEMBL
      A0A8M9QIJ4, Q38HW9
      Conserved Domains (6) summary
      cd11280
      Location:1192 → 1292
      gelsolin_like; Tandemly repeated domains found in gelsolin, severin, villin, and related proteins
      cd11288
      Location:1508 → 1611
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:1071 → 1167
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:1375 → 1486
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:1806 → 1847
      VHP; Villin headpiece domain
      cl15697
      Location:1628 → 1749
      ADF_gelsolin; Actin depolymerization factor/cofilin- and gelsolin-like domains

    6. XM_068224487.1 → XP_068080588.1  supervillin a isoform X6

      UniProtKB/TrEMBL
      Q38HW9

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394842.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      179054..301525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395302.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      859..68890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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