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AVIL advillin [ Homo sapiens (human) ]

Gene ID: 10677, updated on 5-Mar-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
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Genomic context

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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

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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. Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma. Cornelison R, et al. Int J Mol Sci, 2021 Dec 20. PMID 34948433, Free PMC Article
  2. A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma. Xie Z, et al. Nat Commun, 2020 Jul 10. PMID 32651364, Free PMC Article
  3. 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
  4. 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
  5. Mac-1-dependent tyrosine phosphorylation during neutrophil adhesion. Takami M, et al. Am J Physiol Cell Physiol, 2001 May. PMID 11287316

See all (14) 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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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_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_047428110.1 → 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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