• Gene id: 57590

Gene Summary

• Gene Symbol: WDFY1   Gene   UCSC   Ensembl
• Aliases: FENS-1, FENS1, WDF1, ZFYVE17
• Gene name: WD repeat and FYVE domain containing 1
• Alternate names: WD repeat and FYVE domain-containing protein 1, FYVE domain-containing protein localized to endosomes 1, WD40- and FYVE domain-containing protein 1, phosphoinositide-binding protein SR1, zinc finger FYVE domain-containing protein 17,
• Gene location: 2q36.1 (223945334: 223875347)     Exons: 12     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstra
• OMIM: 618080

Protein Summary

• Protein general information: Q8IWB7  
  • Name: WD repeat and FYVE domain containing protein 1 (FYVE domain containing protein localized to endosomes 1) (FENS 1) (Phosphoinositide binding protein 1) (WD40 and FYVE domain containing protein 1) (Zinc finger FYVE domain containing protein 17)
  • Length: 410  
  • Mass: 46324
• Sequence:

  MAAEIHSRPQSSRPVLLSKIEGHQDAVTAALLIPKEDGVITASEDRTIRVWLKRDSGQYWPSIYHTMASPCSAMA
  YHHDSRRIFVGQDNGAVMEFHVSEDFNKMNFIKTYPAHQNRVSAIIFSLATEWVISTGHDKCVSWMCTRSGNMLG
  RHFFTSWASCLQYDFDTQYAFVGDYSGQITLLKLEQNTCSVITTLKGHEGSVACLWWDPIQRLLFSGASDNSIIM
  WDIGGRKGRTLLLQGHHDKVQSLCYLQLTRQLVSCSSDGGIAVWNMDVSREEAPQWLESDSCQKCEQPFFWNIKQ
  MWDTKTLGLRQHHCRKCGQAVCGKCSSKRSSYPVMGFEFQVRVCDSCYDSIKDEDRTSLATFHEGKHNISHMSMD
  IARGLMVTCGTDRIVKIWDMTPVVGCSLATGFSPH

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  IPR042234  IPR042733  IPR000306  IPR017455  IPR011011  IPR013083  
  • Prosite: PS00678 PS50082 PS50294 PS50178
  • CDD: cd15756
  • STRING: ENSP00000233055
• Other Databases: GeneCards:  WDFY1  Malacards:  WDFY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005769	early endosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005545	1-phosphatidylinositol binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0008270	zinc ion binding	NAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0034141	positive regulation of toll-like receptor 3 signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IMP	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)