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Avil advillin [ Mus musculus (house mouse) ]

Gene ID: 11567, updated on 30-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
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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