• Gene id: 56270

Gene Summary

• Gene Symbol: WDR45B   Gene   UCSC   Ensembl
• Aliases: NEDSBAS, WDR45L, WIPI-3, WIPI3
• Gene name: WD repeat domain 45B
• Alternate names: WD repeat domain phosphoinositide-interacting protein 3, WD repeat protein 45-like, WD repeat-containing protein 45-like, WD repeat-containing protein 45B, WDR45-like protein, WIPI3 long, WIPI49-like protein,
• Gene location: 17q25.3 (82648529: 82614561)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif fo
• OMIM: 609226

Protein Summary

• Protein general information: Q5MNZ6  
  • Name: WD repeat domain phosphoinositide interacting protein 3 (WIPI 3) (WD repeat containing protein 45 like) (WDR45 like protein) (WD repeat containing protein 45B) (WIPI49 like protein)
  • Length: 344  
  • Mass: 38122
  • Tissue specificity: Ubiquitously expressed. Highly expressed in heart, skeletal muscle and pancreas. Up-regulated in a variety of tumor tissues including ovarian and uterine cancers. {ECO
• Sequence:

  MNLLPCNPHGNGLLYAGFNQDHGCFACGMENGFRVYNTDPLKEKEKQEFLEGGVGHVEMLFRCNYLALVGGGKKP
  KYPPNKVMIWDDLKKKTVIEIEFSTEVKAVKLRRDRIVVVLDSMIKVFTFTHNPHQLHVFETCYNPKGLCVLCPN
  SNNSLLAFPGTHTGHVQLVDLASTEKPPVDIPAHEGVLSCIALNLQGTRIATASEKGTLIRIFDTSSGHLIQELR
  RGSQAANIYCINFNQDASLICVSSDHGTVHIFAAEDPKRNKQSSLASASFLPKYFSSKWSFSKFQVPSGSPCICA
  FGTEPNAVIAICADGSYYKFLFNPKGECIRDVYAQFLEMTDDKL

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR036322  
  • PDB: 6IYY
  • PDBsum: 6IYY
  • STRING: ENSP00000376139
• Other Databases: GeneCards:  WDR45B  Malacards:  WDR45B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IBA	molecular function
GO:0034497	protein localization to phagophore assembly site	IBA	biological process
GO:0019898	extrinsic component of membrane	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0044804	autophagy of nucleus	IBA	biological process
GO:0034045	phagophore assembly site membrane	IBA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0006497	protein lipidation	IBA	biological process
GO:0000422	autophagy of mitochondrion	IBA	biological process
GO:0000045	autophagosome assembly	IBA	biological process
GO:0062078	TSC1-TSC2 complex binding	IDA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0000407	phagophore assembly site	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0000045	autophagosome assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0000407	phagophore assembly site	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R