• Gene id: 23412

Gene Summary

• Gene Symbol: COMMD3   Gene   UCSC   Ensembl
• Aliases: BUP, C10orf8
• Gene name: COMM domain containing 3
• Alternate names: COMM domain-containing protein 3, protein Bup,
• Gene location: 10p12.2 (22316387: 22320305)     Exons: 8     NC_000010.11
• OMIM: 616700

Protein Summary

• Protein general information: Q9UBI1  
  • Name: COMM domain containing protein 3 (Protein Bup) (Protein PIL)
  • Length: 195  
  • Mass: 22151
  • Tissue specificity: Widely expressed with highest expression in thymus. {ECO
• Sequence:

  MELSESVQKGFQMLADPRSFDSNAFTLLLRAAFQSLLDAQADEAVLDHPDLKHIDPVVLKHCHAAAATYILEAGK
  HRADKSTLSTYLEDCKFDRERIELFCTEYQNNKNSLEILLGSIGRSLPHITDVSWRLEYQIKTNQLHRMYRPAYL
  VTLSVQNTDSPSYPEISFSCSMEQLQDLVGKLKDASKSLERATQL

• Structural information:
  • Protein Domains: (124..19-)
    (/note="COMM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00602"-)
  • Interpro: IPR017920  IPR037355  
  • Prosite: PS51269
  • STRING: ENSP00000366032
• Other Databases: GeneCards:  COMMD3  Malacards:  COMMD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq