WDFY3

WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the WDFY3 gene.^[5][6]

WDFY3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3WIM
Identifiers
Aliases	WDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
External IDs	OMIM: 617485; MGI: 1096875; HomoloGene: 22855; GeneCards: WDFY3; OMA:WDFY3 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q21.23 Start 84,669,597 bp[1] End 84,966,690 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 E5|5 48.95 cM Start 101,980,822 bp[2] End 102,217,787 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve Achilles tendon corpus callosum inferior olivary nucleus dorsal motor nucleus of vagus nerve ventricular zone internal globus pallidus ganglionic eminence epithelium of colon optic nerve Top expressed in mammillary body lateral hypothalamus lateral septal nucleus lobe of cerebellum lateral geniculate nucleus cerebellar vermis dorsal tegmental nucleus ventromedial nucleus paraventricular nucleus of hypothalamus medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding 1-phosphatidylinositol binding beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity metal ion binding lipid binding Cellular component Atg12-Atg5-Atg16 complex PML body nuclear membrane nuclear envelope extrinsic component of membrane extrinsic component of autophagosome membrane autophagosome cytoplasm inclusion body membrane nucleus nucleolus plasma membrane cytosol axon cell projection perikaryon Biological process aggrephagy autophagy multicellular organism development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23001 72145 Ensembl ENSG00000163625 ENSMUSG00000043940 UniProt Q8IZQ1 Q6VNB8 RefSeq (mRNA) NM_014991 NM_178583 NM_178585 NM_172882 NM_028124 RefSeq (protein) NP_055806 NP_766470 Location (UCSC) Chr 4: 84.67 – 84.97 Mb Chr 5: 101.98 – 102.22 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined.^[6]

Biochemistry

This protein appears to act as a autophagy scaffolding protein.^[7]

Clinical

Mutations in this gene have been associated with neurodevelopmental delay, intellectual disability, macrocephaly and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder).^[7]