• Gene id: 11152

Gene Summary

• Gene Symbol: WDR45   Gene   UCSC   Ensembl
• Aliases: JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4
• Gene name: WD repeat domain 45
• Alternate names: WD repeat domain phosphoinositide-interacting protein 4, WD repeat domain, X-linked 1, WD repeat-containing protein 45, WD45 repeat protein interacting with phosphoinositides 4, neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iro,
• Gene location: Xp11.23 (49101120: 49074432)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
• OMIM: 300526

Protein Summary

• Protein general information: Q9Y484  
  • Name: WD repeat domain phosphoinositide interacting protein 4 (WIPI 4) (WD repeat containing protein 45)
  • Length: 360  
  • Mass: 39868
  • Tissue specificity: Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. {ECO
• Sequence:

  MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFS
  EISVLIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDL
  CPSLEKQLLVFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSK
  EKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASF
  TVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR036322  IPR032910  
  • STRING: ENSP00000348848
• Other Databases: GeneCards:  WDR45  Malacards:  WDR45

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:0000407	phagophore assembly site	IDA	cellular component
GO:1901981	phosphatidylinositol phosphate binding	IDA	molecular function
GO:0009267	cellular response to starvation	IDA	biological process
GO:0006914	autophagy	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000045	autophagosome assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000407	phagophore assembly site	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Neurodegeneration with brain iron accumulation	KEGG:H00833
Neurodegeneration with brain iron accumulation	KEGG:H00833
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R