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    AVIL advillin [ Homo sapiens (human) ]

    Gene ID: 10677, updated on 27-Nov-2024

    Summary

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    Official Symbol
    AVILprovided by HGNC
    Official Full Name
    advillinprovided by HGNC
    Primary source
    HGNC:HGNC:14188
    See related
    Ensembl:ENSG00000135407 MIM:613397; AllianceGenome:HGNC:14188
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p92; DOC6; ADVIL; NPHS21
    Summary
    The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in adrenal (RPKM 3.9), appendix (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AVIL in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57797380..57818734, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57765749..57788033, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (58191163..58212517, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:58164747-58165946 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58166052-58166561 Neighboring gene methyltransferase 1, tRNA methylguanosine Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58176331-58177200 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene RNA, U6 small nuclear 1083, pseudogene Neighboring gene CTD small phosphatase 2 Neighboring gene microRNA 26a-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6560 Neighboring gene uncharacterized LOC105369783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6561 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:58231763-58232383

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma. Cornelison R, et al. Int J Mol Sci, 2023 Sep 17. PMID 37762498, Free PMC Article
    2. Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma. Cornelison R, et al. Int J Mol Sci, 2021 Dec 20. PMID 34948433, Free PMC Article
    3. A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma. Xie Z, et al. Nat Commun, 2020 Jul 10. PMID 32651364, Free PMC Article
    4. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Tümer Z, et al. Gene, 2002 Apr 17. PMID 12034507
    5. Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants. Piana S, et al. J Mol Biol, 2008 Jan 11. PMID 18022635

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.
      Title: The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.
    2. Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma.
      Title: Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma.
    3. A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma.
      Title: A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma.
    4. podocyte migration rate was increased by overexpression of WT Avil or PLCE1, or by EGF stimulation; however, this increased PMR was ameliorated by inhibition of the ARP2/3 complex, indicating that ARP-dependent lamellipodia formation occurs downstream of AVIL and PLCE1 function.
      Title: Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.
    5. Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.
      Title: Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.
    6. NMR structure of the C-terminal headpiece subdomains of advillin. Evaluation of F-actin-binding requirements.
      Title: Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements.
    Submit: New GeneRIF Correction

    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
    Nephrotic syndrome, type 21
    MedGen: C5231498 OMIM: 618594 GeneReviews: Not available
    		Compare labs

    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

    Homology

    Clone Names

    • FLJ12386, MGC133244, DKFZp779O1812

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Arp2/3 complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables actin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of diacylglycerol biosynthetic process 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 filament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell projection ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    advillin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_006576.4 → NP_006567.3  advillin

      See identical proteins and their annotated locations for NP_006567.3

      Status: VALIDATED

      Source sequence(s)
      AC025165, AC121759
      Consensus CDS
      CCDS8959.1
      UniProtKB/Swiss-Prot
      B2RAU7, O75366, Q2NKM9
      Related
      ENSP00000449239.2, ENST00000549994.2
      Conserved Domains (7) summary
      smart00153
      Location:784 → 819
      VHP; Villin headpiece domain
      cd11288
      Location:510 → 600
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133 → 223
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:7 → 118
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:615 → 712
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:247 → 345
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:389 → 489
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      57797380..57818734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428110.1 → XP_047284066.1  advillin isoform X1

    2. XM_047428114.1 → XP_047284070.1  advillin isoform X3

      UniProtKB/Swiss-Prot
      B2RAU7, O75366, Q2NKM9
      Related
      ENSP00000257861.3, ENST00000257861.7

    3. XM_047428113.1 → XP_047284069.1  advillin isoform X2

    4. XM_047428112.1 → XP_047284068.1  advillin isoform X2

    5. XM_047428111.1 → XP_047284067.1  advillin isoform X2

    6. XM_047428117.1 → XP_047284073.1  advillin isoform X6

    7. XM_047428116.1 → XP_047284072.1  advillin isoform X5

    8. XM_047428115.1 → XP_047284071.1  advillin isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      57765749..57788033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370815.1 → XP_054226790.1  advillin isoform X2

    2. XM_054370814.1 → XP_054226789.1  advillin isoform X2

    3. XM_054370813.1 → XP_054226788.1  advillin isoform X2

    4. XM_054370812.1 → XP_054226787.1  advillin isoform X2

    5. XM_054370811.1 → XP_054226786.1  advillin isoform X1

    6. XM_054370818.1 → XP_054226793.1  advillin isoform X6

    7. XM_054370817.1 → XP_054226792.1  advillin isoform X5

    8. XM_054370816.1 → XP_054226791.1  advillin isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75366.3 GenPept UniProtKB/Swiss-Prot:O75366

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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