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    AVIL advillin [ Homo sapiens (human) ]

    Gene ID: 10677, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Genomic context

    See AVIL in Genome Data Viewer
    Location:
    12q14.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (57797380..57818734, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (57765749..57788033, complement)
    105.20220307 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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    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_006576.4NP_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:784819
      VHP; Villin headpiece domain
      cd11288
      Location:510600
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133223
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:7118
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:615712
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:247345
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:389489
      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_2023_10

    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_047428110.1XP_047284066.1  advillin isoform X1

    2. XM_047428114.1XP_047284070.1  advillin isoform X3

      UniProtKB/Swiss-Prot
      B2RAU7, O75366, Q2NKM9
      Related
      ENSP00000257861.3, ENST00000257861.7
    3. XM_047428113.1XP_047284069.1  advillin isoform X2

    4. XM_047428112.1XP_047284068.1  advillin isoform X2

    5. XM_047428111.1XP_047284067.1  advillin isoform X2

    6. XM_047428117.1XP_047284073.1  advillin isoform X6

    7. XM_047428116.1XP_047284072.1  advillin isoform X5

    8. XM_047428115.1XP_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_054370815.1XP_054226790.1  advillin isoform X2

    2. XM_054370814.1XP_054226789.1  advillin isoform X2

    3. XM_054370813.1XP_054226788.1  advillin isoform X2

    4. XM_054370812.1XP_054226787.1  advillin isoform X2

    5. XM_054370811.1XP_054226786.1  advillin isoform X1

    6. XM_054370818.1XP_054226793.1  advillin isoform X6

    7. XM_054370817.1XP_054226792.1  advillin isoform X5

    8. XM_054370816.1XP_054226791.1  advillin isoform X4