• Gene id: 143384

Gene Summary

• Gene Symbol: CACUL1   Gene   UCSC   Ensembl
• Aliases: C10orf46, CAC1
• Gene name: CDK2 associated cullin domain 1
• Alternate names: CDK2-associated and cullin domain-containing protein 1, Cdk-Associated Cullin1, cullin,
• Gene location: 10q26.11 (118754969: 118676410)     Exons: 9     NC_000010.11
• OMIM: 618764

Protein Summary

• Protein general information: Q86Y37  
  • Name: CDK2 associated and cullin domain containing protein 1 (Cdk associated cullin1)
  • Length: 369  
  • Mass: 41064
  • Tissue specificity: Ubiquitously expressed with highest expression in the mammary gland and large intestine. Highly expressed in cancer tissues and cancer cell lines. During cell cycle progression expression is high in G1/S, low in the middle of S phase,
• Sequence:

  MEESMEEEEGGSYEAMMDDQNHNNWEAAVDGFRQPLPPPPPPSSIPAPAREPPGGQLLAVPAVSVDRKGPKEGLP
  MGPQPPPEANGVIMMLKSCDAAAAVAKAAPAPTASSTININTSTSKFLMNVITIEDYKSTYWPKLDGAIDQLLTQ
  SPGDYIPISYEQIYSCVYKCVCQQHSEQMYSDLIKKITNHLERVSKELQASPPDLYIERFNIALGQYMGALQSIV
  PLFIYMNKFYIETKLNRDLKDDLIKLFTEHVAEKHIYSLMPLLLEAQSTPFQVTPSTMANIVKGLYTLRPEWVQM
  APTLFSKFIPNILPPAVESELSEYAAQDQKFQRELIQNGFTRGDQSRKRAGDELAYNSSSACASSRGYR

• Structural information:
  • Interpro: IPR042652  IPR001373  IPR016159  
  • STRING: ENSP00000358147
• Other Databases: GeneCards:  CACUL1  Malacards:  CACUL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:0045860	positive regulation of protein kinase activity	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq