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
204176042010The selective macroautophagic degradation of aggregated proteins requires the PI3P-binding protein Alfy.153
201680922010p62/SQSTM1 and ALFY interact to facilitate the formation of p62 bodies/ALIS and their degradation by autophagy.115
152924002004Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes.104
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
246682642014Structural determinants in GABARAP required for the selective binding and recruitment of ALFY to LC3B-positive structures.40
276485782016Autophagy linked FYVE (Alfy/WDFY3) is required for establishing neuronal connectivity in the mammalian brain.20
270085442016ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.18
211502662011Alfy-dependent elimination of aggregated proteins by macroautophagy: can there be too much of a good thing?8
290215352017The autophagy scaffold protein ALFY is critical for the granulocytic differentiation of AML cells.5
313270012019Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.2

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/wdfy3