WDFY3

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

PDBOrtholog search: PDBe RCSB
AliasesWDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
Quick facts Available structures, PDB ...
WDFY3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesWDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18
External IDsOMIM: 617485; MGI: 1096875; HomoloGene: 22855; GeneCards: WDFY3; OMA:WDFY3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 5: 101.98 – 102.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

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]

References

Further reading

Related Articles

Wikiwand AI