WDFY3 Gene Summary [Human]

This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]

Details

Type
Protein Coding
Official Symbol
WDFY3
Official Name
WD repeat and FYVE domain containing 3 [Source:HGNC Symbol;Acc:HGNC:20751]
Ensembl ID
ENSG00000163625
Bio databases IDs NCBI: 23001 Ensembl: ENSG00000163625
Aliases WD repeat and FYVE domain containing 3
Synonyms 2610509D04Rik, ALFY, B930017C24, BCHS, BWF1, D5Ertd66e, Ggtb3, KIAA0993, MCPH18, mKIAA0993, WD repeat and FYVE domain containing 3, ZFYVE25
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 WDFY3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FYVE domain like superfamily
  • FYVE zinc finger
  • beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
  • WD40 repeats
  • Protein present in Fab1, YOTB, Vac1, and EEA1
  • WD domain, G-beta repeat
  • PHD finger superfamily
  • enzyme
  • protein binding
  • Pleckstrin homology-like domain
  • phosphatidylinositol binding
  • Beach

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epidermal hyperplasia
  • Hodgkin disease
  • lymphocyte-depleted classical Hodgkin lymphoma
  • hereditary disorder
  • schizophrenia
  • autosomal dominant primary microcephaly 18
  • Alzheimer disease
  • neurodevelopmental disorder
  • autosomal dominant mental retardation type 1
  • pervasive developmental disorder
regulated by
role in cell
  • expression in
  • clearance
  • clearance in
  • protection
  • directional motility

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular space
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • vesicles
  • cytosol
  • nucleoplasm
  • nucleoli
  • nuclear envelope
  • autophagic vacuoles
  • early endosomes
  • cytoplasmic vesicles
  • cellular protrusions
  • PML nuclear bodies

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human WDFY3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • aggrephagy

Cellular Component

Where in the cell the gene product is active
  • PML body
  • Atg12-Atg5-Atg16 complex
  • nucleolus
  • perikaryon
  • autophagic vacuole
  • plasma membrane
  • autophagic vacuole membrane
  • nucleoplasm
  • nuclear envelope
  • nuclear membrane
  • cytoplasm
  • membrane
  • cytosol
  • inclusion body
  • axon

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • 1-phosphatidylinositol binding

Gene-Specific Assays for Results You Can Trust

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