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    Avil advillin [ Mus musculus (house mouse) ]

    Gene ID: 11567, updated on 21-Apr-2024

    Summary

    Official Symbol
    Avilprovided by MGI
    Official Full Name
    advillinprovided by MGI
    Primary source
    MGI:MGI:1333798
    See related
    Ensembl:ENSMUSG00000025432 AllianceGenome:MGI:1333798
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DOC6; Advil
    Summary
    Predicted to enable Arp2/3 complex binding activity; actin filament binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in positive regulation of neuron projection development. Predicted to be located in several cellular components, including actin filament; focal adhesion; and lamellipodium. Predicted to be active in actin cytoskeleton and cytoplasm. Is expressed in several structures, including eye; forelimb; nervous system; skin; and tongue papillae. Human ortholog(s) of this gene implicated in nephrotic syndrome type 21. Orthologous to human AVIL (advillin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in stomach adult (RPKM 6.0), small intestine adult (RPKM 1.4) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    10 D3; 10 74.48 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (126835933..126856857)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (127000065..127020994)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene CTD small phosphatase 2 Neighboring gene microRNA 26a-2 Neighboring gene microRNA 546 Neighboring gene Ts translation elongation factor, mitochondrial Neighboring gene EEF1A lysine methyltransferase 3 Neighboring gene methyltransferase 1, tRNA methylguanosine

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (6)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    advillin
    Names
    actin-binding protein DOC6
    p92

    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_001402490.1NP_001389419.1  advillin

      Status: VALIDATED

      Source sequence(s)
      AC134329
      UniProtKB/Swiss-Prot
      O70466, O88398, Q3U1K5
    2. NM_009635.4NP_033765.2  advillin

      See identical proteins and their annotated locations for NP_033765.2

      Status: VALIDATED

      Source sequence(s)
      AC134329
      Consensus CDS
      CCDS24221.1
      UniProtKB/Swiss-Prot
      O70466, O88398, Q3U1K5
      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Related
      ENSMUSP00000026500.6, ENSMUST00000026500.12
      Conserved Domains (7) summary
      cd11288
      Location:510599
      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:617712
      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
      pfam02209
      Location:785819
      VHP; Villin headpiece domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      126835933..126856857
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155518.1XP_036011411.1  advillin isoform X2

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      cd11288
      Location:540629
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133253
      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:647742
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:277375
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:419519
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:814848
      VHP; Villin headpiece domain
    2. XM_036155517.1XP_036011410.1  advillin isoform X3

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      cd11288
      Location:539628
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:162252
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:36147
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:646741
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:276374
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:418518
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:813847
      VHP; Villin headpiece domain
    3. XM_036155516.1XP_036011409.1  advillin isoform X2

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      cd11288
      Location:540629
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133253
      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:647742
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:277375
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:419519
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:814848
      VHP; Villin headpiece domain
    4. XM_006513098.3XP_006513161.1  advillin isoform X1

      See identical proteins and their annotated locations for XP_006513161.1

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      smart00153
      Location:843878
      VHP; Villin headpiece domain
      cd11288
      Location:569658
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:162282
      gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins
      cd11290
      Location:36147
      gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins
      cd11291
      Location:676771
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:306404
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:448548
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
    5. XM_006513100.3XP_006513163.1  advillin isoform X2

      See identical proteins and their annotated locations for XP_006513163.1

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      cd11288
      Location:540629
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133253
      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:647742
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:277375
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:419519
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:814848
      VHP; Villin headpiece domain
    6. XM_006513101.4XP_006513164.1  advillin isoform X2

      See identical proteins and their annotated locations for XP_006513164.1

      UniProtKB/TrEMBL
      Q0VEI6, Q3TBC5
      Conserved Domains (7) summary
      cd11288
      Location:540629
      gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins
      cd11289
      Location:133253
      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:647742
      gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins
      cd11292
      Location:277375
      gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins
      cd11293
      Location:419519
      gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins
      pfam02209
      Location:814848
      VHP; Villin headpiece domain

    RNA

    1. XR_871691.4 RNA Sequence