• Gene id: 898

Gene Summary

• Gene Symbol: CCNE1   Gene   UCSC   Ensembl
• Aliases: CCNE, pCCNE1
• Gene name: cyclin E1
• Alternate names: G1/S-specific cyclin-E1,
• Gene location: 19q12 (29811990: 29824311)     Exons: 7     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit
• OMIM: 123837

SNPs

rs757326350

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

rs553509

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

Protein Summary

• Protein general information: P24864  
  • Name: G1/S specific cyclin E1
  • Length: 410  
  • Mass: 47077
  • Tissue specificity: Highly expressed in testis and placenta. Low levels in bronchial epithelial cells. {ECO
• Sequence:

  MPRERRERDAKERDTMKEDGGAEFSARSRKRKANVTVFLQDPDEEMAKIDRTARDQCGSQPWDNNAVCADPCSLI
  PTPDKEDDDRVYPNSTCKPRIIAPSRGSPLPVLSWANREEVWKIMLNKEKTYLRDQHFLEQHPLLQPKMRAILLD
  WLMEVCEVYKLHRETFYLAQDFFDRYMATQENVVKTLLQLIGISSLFIAAKLEEIYPPKLHQFAYVTDGACSGDE
  ILTMELMIMKALKWRLSPLTIVSWLNVYMQVAYLNDLHEVLLPQYPQQIFIQIAELLDLCVLDVDCLEFPYGILA
  ASALYHFSSSELMQKVSGYQWCDIENCVKWMVPFAMVIRETGSSKLKHFRGVADEDAHNIQTHRDSLDLLDKARA
  KKAMLSEQNRASPLPSGLLTPPQSGKKQSSGPEMA

• Structural information:
  • Interpro: IPR039361  IPR013763  IPR036915  IPR004367  IPR028858   IPR006671  
  • Prosite: PS00292
  • CDD: cd00043
  • PDB: 1W98 5L2W
  • PDBsum: 1W98 5L2W
  • DIP: 149
  • STRING: ENSP00000262643
• Other Databases: GeneCards:  CCNE1  Malacards:  CCNE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:0044772	mitotic cell cycle phase transition	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IBA	cellular component
GO:0000082	G1/S transition of mitotic cell cycle	IBA	biological process
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0097134	cyclin E1-CDK2 complex	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000082	G1/S transition of mitotic cell cycle	IEA	biological process
GO:0042025	host cell nucleus	IEA	cellular component
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006468	protein phosphorylation	IMP	biological process
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS	biological process
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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: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:0097134	cyclin E1-CDK2 complex	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006270	DNA replication initiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1903827	regulation of cellular protein localization	IEA	biological process
GO:0070192	chromosome organization involved in meiotic cell cycle	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:0000723	telomere maintenance	IEA	biological process
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IEA	cellular component
GO:0000082	G1/S transition of mitotic cell cycle	IMP	biological process
GO:1902462	positive regulation of mesenchymal stem cell proliferation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0097134	cyclin E1-CDK2 complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000082	G1/S transition of mitotic cell cycle	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04110	Cell cycle
hsa04114	Oocyte meiosis
hsa05162	Measles
hsa05222	Small cell lung cancer
hsa05215	Prostate cancer
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Gastric cancer	KEGG:H00018
Laryngeal cancer	KEGG:H00055
Gastric cancer	KEGG:H00018
Laryngeal cancer	KEGG:H00055
urinary bladder cancer	PMID:16739882
urinary bladder cancer	PMID:18047954
Breast cancer	PMID:17483245
Breast adenocarcinoma	PMID:18089785
lung non-small cell carcinoma	PMID:11212263
renal cell carcinoma	PMID:17726548
cervix uteri carcinoma in situ	PMID:18301453
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881