WDFY3 (WD repeat and FYVE domain containing 3)

2019-08-01  

Identity

HGNC
LOCATION
4q21.23
LOCUSID
ALIAS
ALFY,BCHS,MCPH18,ZFYVE25

Other Information

Locus ID:

NCBI: 23001
MIM: 617485
HGNC: 20751
Ensembl: ENSG00000163625

Variants:

dbSNP: 23001
ClinVar: 23001
TCGA: ENSG00000163625
COSMIC: WDFY3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163625ENST00000295888Q8IZQ1
ENSG00000163625ENST00000295888A0A024RDI0
ENSG00000163625ENST00000502713A0A1D5RMR8
ENSG00000163625ENST00000509172D6RJE4
ENSG00000163625ENST00000514071H0YAD8
ENSG00000163625ENST00000514711H0Y9T6

Expression (GTEx)

0
5
10
15
20
25
30

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
350990142022ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration.0
365662592022A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.5
350990142022ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration.0
365662592022A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.5
332254812021A highly conserved glutamic acid in ALFY inhibits membrane binding to aid in aggregate clearance.4
332254812021A highly conserved glutamic acid in ALFY inhibits membrane binding to aid in aggregate clearance.4
318990712020Huntington's Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3 and Selective Macroautophagy.31
318990712020Huntington's Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3 and Selective Macroautophagy.31
313270012019Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.22
313270012019Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.22
290215352017The autophagy scaffold protein ALFY is critical for the granulocytic differentiation of AML cells.10
290215352017The autophagy scaffold protein ALFY is critical for the granulocytic differentiation of AML cells.10
270085442016ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.45
276485782016Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain.53
270085442016ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.45

Citation

Dessen P

WDFY3 (WD repeat and FYVE domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58031/haematological-explorer/meetings/