• Gene id: 57820

Gene Summary

• Gene Symbol: CCNB1IP1   Gene   UCSC   Ensembl
• Aliases: C14orf18, HEI10
• Gene name: cyclin B1 interacting protein 1
• Alternate names: E3 ubiquitin-protein ligase CCNB1IP1, RING-type E3 ubiquitin transferase CCNB1IP1, cyclin B1 interacting protein 1, E3 ubiquitin protein ligase, epididymis secretory sperm binding protein, human enhancer of invasion 10,
• Gene location: 14q11.2 (20333311: 20311367)     Exons: 8     NC_000014.9
• Gene summary(Entrez): HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]
• OMIM: 608249

Protein Summary

• Protein general information: Q9NPC3  
  • Name: E3 ubiquitin protein ligase CCNB1IP1 (EC 2.3.2.27) (Cyclin B1 interacting protein 1) (Human enhancer of invasion 10) (RING type E3 ubiquitin transferase CCNB1IP1)
  • Length: 277  
  • Mass: 31544
  • Tissue specificity: Highly expressed in heart. Detected at intermediate levels in liver and kidney, and at low levels in placenta, brain and lung. {ECO
• Sequence:

  MSLCEDMLLCNYRKCRIKLSGYAWVTACSHIFCDQHGSGEFSRSPAICPACNSTLSGKLDIVRTELSPSEEYKAM
  VLAGLRPEIVLDISSRALAFWTYQVHQERLYQEYNFSKAEGHLKQMEKIYTQQIQSKDVELTSMKGEVTSMKKVL
  EEYKKKFSDISEKLMERNRQYQKLQGLYDSLRLRNITIANHEGTLEPSMIAQSGVLGFPLGNNSKFPLDNTPVRN
  RGDGDGDFQFRPFFAGSPTAPEPSNSFFSFVSPSRELEQQQVSSRAFKVKRI

• Structural information:
  • Interpro: IPR042448  IPR001841  
  • STRING: ENSP00000409896
• Other Databases: GeneCards:  CCNB1IP1  Malacards:  CCNB1IP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0051026	chiasma assembly	ISS	biological process
GO:0000795	synaptonemal complex	ISS	colocalizes with
GO:0007131	reciprocal meiotic recombination	ISS	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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:0007131	reciprocal meiotic recombination	IEA	biological process
GO:0051026	chiasma assembly	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0001825	blastocyst formation	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq