• Gene id: 348793

Gene Summary

• Gene Symbol: WDR53   Gene   UCSC   Ensembl
• Gene name: WD repeat domain 53
• Alternate names: WD repeat-containing protein 53, WD domain, G-beta repeat-containing protein,
• Gene location: 3q29 (196568673: 196554176)     Exons: 4     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
• OMIM: 615110

Protein Summary

• Protein general information: Q7Z5U6  
  • Name: WD repeat containing protein 53
  • Length: 358  
  • Mass: 38989
• Sequence:

  MAVKWTGGHSSPVLCLNASKEGLLASGAEGGDLTAWGEDGTPLGHTRFQGADDVTSVLFSPSCPTKLYASHGETI
  SVLDVRSLKDSLDHFHVNEEEINCLSLNQTENLLASADDSGAIKILDLENKKVIRSLKRHSNICSSVAFRPQRPQ
  SLVSCGLDMQVMLWSLQKARPLWITNLQEDETEEMEGPQSPGQLLNPALAHSISVASCGNIFSCGAEDGKVRIFR
  VMGVKCEQELGFKGHTSGVSQVCFLPESYLLLTGGNDGKITLWDANSEVEKKQKSPTKRTHRKKPKRGTCTKQGG
  NTNASVTDEEEHGNILPKLNIEHGEKVNWLLGTKIKGHQNILVADQTSCISVYPLNEF

• Structural information:
  • Interpro: IPR024977  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  IPR042453  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000328079
• Other Databases: GeneCards:  WDR53  Malacards:  WDR53

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray