AVIL Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
AVIL
Official Name
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Ensembl ID
ENSG00000135407
Bio databases IDs NCBI: 10677 Ensembl: ENSG00000135407
Aliases advillin
Synonyms ADVIL, advillin, DOC6, NPHS21, p92, Putative actin binding protein doc6
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AVIL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • actin filament binding
  • Actin depolymerization factor/cofilin- and gelsolin-like domains
  • binding protein
  • Gelsolin repeat
  • actin binding
  • Villin headpiece domain
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • nephrotic syndrome type 21
  • nephrosis
regulated by
regulates
  • diacylglycerol
role in cell
  • formation
  • development
  • organization
  • assembly
  • shape change

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • focal adhesions
  • actin cytoskeleton
  • actin filaments
  • neurites
  • cellular protrusions
  • lamellipodia

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human AVIL gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of lamellipodium assembly
  • barbed-end actin filament capping
  • actin filament severing
  • regulation of diacylglycerol biosynthetic process
  • cilium morphogenesis
  • actin polymerization or depolymerization
  • nervous system development
  • actin filament organization
  • positive regulation of neuron projection development

Cellular Component

Where in the cell the gene product is active
  • focal adhesion
  • cytoplasm
  • actin cytoskeleton
  • actin filament
  • cell projection
  • neuron projection
  • axon
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • phosphatidylinositol-4,5-bisphosphate binding
  • protein binding
  • actin binding
  • Arp2/3 complex binding

Gene-Specific Assays for Results You Can Trust

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