• Gene id: 1028

Gene Summary

• Gene Symbol: CDKN1C   Gene   UCSC   Ensembl
• Aliases: BWCR, BWS, KIP2, WBS, p57, p57Kip2
• Gene name: cyclin dependent kinase inhibitor 1C
• Alternate names: cyclin-dependent kinase inhibitor 1C, cyclin-dependent kinase inhibitor 1C (p57, Kip2), cyclin-dependent kinase inhibitor p57,
• Gene location: 11p15.4 (2885774: 2883217)     Exons: 4     NC_000011.10
• Gene summary(Entrez): This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated
• OMIM: 606870

Protein Summary

• Protein general information: P49918  
  • Name: Cyclin dependent kinase inhibitor 1C (Cyclin dependent kinase inhibitor p57) (p57Kip2)
  • Length: 316  
  • Mass: 32177
  • Tissue specificity: Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver. {ECO
• Sequence:

  MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNRWDYDFQQDMPLRGPG
  RLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLEPAAESLDGLEEAPEQLPSVPVPAPASTPPP
  VPVLAPAPAPAPAPVAAPVAAPVAVAVLAPAPAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAE
  QGANQGQRGQEPLADQLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA
  APGVGSVEQTPRKRLR

• Structural information:
  • Interpro: IPR003175  IPR029842  
  • STRING: ENSP00000413720
• Other Databases: GeneCards:  CDKN1C  Malacards:  CDKN1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045930	negative regulation of mitotic cell cycle	IBA	biological process
GO:0042326	negative regulation of phosphorylation	IBA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004861	cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA	molecular function
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007346	regulation of mitotic cell cycle	IEA	biological process
GO:0004860	protein kinase inhibitor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050680	negative regulation of epithelial cell proliferation	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:1904030	negative regulation of cyclin-dependent protein kinase activity	IMP	biological process
GO:0004860	protein kinase inhibitor activity	IMP	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0033673	negative regulation of kinase activity	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IGI	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04110	Cell cycle

Diseases

Associated diseases	References
Adrenal carcinoma	KEGG:H00033
Beckwith-Wiedemann syndrome	KEGG:H00713
IMAGE syndrome	KEGG:H02319
Adrenal carcinoma	KEGG:H00033
Beckwith-Wiedemann syndrome	KEGG:H00713
IMAGE syndrome	KEGG:H02319
Hyperinsulinism	PMID:11723059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R