Human Gene CCNE1 (ENST00000262643.8_10) from GENCODE V47lift37
  Description: cyclin E1, transcript variant 4 (from RefSeq NM_001322261.2)
Gencode Transcript: ENST00000262643.8_10
Gencode Gene: ENSG00000105173.14_14
Transcript (Including UTRs)
   Position: hg19 chr19:30,302,898-30,315,219 Size: 12,322 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr19:30,303,463-30,314,684 Size: 11,222 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:30,302,898-30,315,219)mRNA (may differ from genome)Protein (410 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CCNE1_HUMAN
DESCRIPTION: RecName: Full=G1/S-specific cyclin-E1;
FUNCTION: Essential for the control of the cell cycle at the G1/S (start) transition.
SUBUNIT: Interacts with a member of the CDK2/CDK protein kinases to form a serine/threonine kinase holoenzyme complex. The cyclin subunit imparts substrate specificity to the complex. Found in a complex with CDK2, CABLES1 and CCNA1 (By similarity). Part of a complex consisting of UHRF2, CDK2 and CCNE1. Interacts directly with UHRF2; the interaction ubiquitinates CCNE1 and appears to occur independently of CCNE1 phosphorylation.
INTERACTION: P38398:BRCA1; NbExp=2; IntAct=EBI-519526, EBI-349905; P24941:CDK2; NbExp=9; IntAct=EBI-519526, EBI-375096; P38936:CDKN1A; NbExp=7; IntAct=EBI-519526, EBI-375077; P46527:CDKN1B; NbExp=6; IntAct=EBI-519526, EBI-519280; Q96PU4:UHRF2; NbExp=4; IntAct=EBI-519526, EBI-625304;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Highly expressed in testis and placenta. Low levels in bronchial epithelial cells.
PTM: Phosphorylation of Thr-395 by GSK3 and of Ser-399 by CDK2 accelerates degradation via the ubiquitin proteasome pathway. Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Ubiquitinated by UHRF2; appears to occur independently of phosphorylation.
SIMILARITY: Belongs to the cyclin family. Cyclin E subfamily.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ccne1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CCNE1
Diseases sorted by gene-association score: chronic endophthalmitis (16), facial dermatosis (11), phlyctenulosis (11), bowenoid papulosis (10), lung adenoma (10), septicemic plague (9), senile angioma (9), primary mediastinal large b-cell lymphoma (8), purulent endophthalmitis (7), white sponge nevus 1 (4), lung cancer (4), endometrial cancer (3), breast cancer (2), urinary bladder cancer (2), ovarian cancer, somatic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.47 RPKM in Testis
Total median expression: 88.41 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -93.90186-0.505 Picture PostScript Text
3' UTR -180.40535-0.337 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013763 - Cyclin-like
IPR014400 - Cyclin_A/B/D/E
IPR004367 - Cyclin_C
IPR006671 - Cyclin_N

Pfam Domains:
PF00134 - Cyclin, N-terminal domain
PF02984 - Cyclin, C-terminal domain

SCOP Domains:
47954 - Cyclin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1W98 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P24864
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003713 transcription coactivator activity
GO:0004693 cyclin-dependent protein serine/threonine kinase activity
GO:0005515 protein binding
GO:0016301 kinase activity
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity
GO:0019901 protein kinase binding
GO:0050681 androgen receptor binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000723 telomere maintenance
GO:0006270 DNA replication initiation
GO:0006468 protein phosphorylation
GO:0007049 cell cycle
GO:0007129 synapsis
GO:0016055 Wnt signaling pathway
GO:0030521 androgen receptor signaling pathway
GO:0045859 regulation of protein kinase activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051301 cell division
GO:0051726 regulation of cell cycle
GO:0070192 chromosome organization involved in meiotic cell cycle
GO:1903827 regulation of cellular protein localization

Cellular Component:
GO:0000307 cyclin-dependent protein kinase holoenzyme complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0097134 cyclin E1-CDK2 complex


-  Descriptions from all associated GenBank mRNAs
  AK291549 - Homo sapiens cDNA FLJ75709 complete cds, highly similar to Homo sapiens cyclin E1 (CCNE1), transcript variant 1, mRNA.
KF672848 - Homo sapiens cyclin E variant ex5del (CCNE1) mRNA, complete cds, alternatively spliced.
KR134287 - Homo sapiens clone 2-9 pluripotent specific cyclin E1 (pCCNE1) mRNA, partial cds.
BC035498 - Homo sapiens cyclin E1, mRNA (cDNA clone MGC:20493 IMAGE:3841192), complete cds.
JD416432 - Sequence 397456 from Patent EP1572962.
JD458478 - Sequence 439502 from Patent EP1572962.
JD422447 - Sequence 403471 from Patent EP1572962.
JD172637 - Sequence 153661 from Patent EP1572962.
DQ893383 - Synthetic construct clone IMAGE:100006013; FLH199455.01X; RZPDo839A1182D cyclin E1 (CCNE1) gene, encodes complete protein.
DQ896703 - Synthetic construct Homo sapiens clone IMAGE:100011163; FLH199361.01L; RZPDo839A1181D cyclin E1 (CCNE1) gene, encodes complete protein.
CU690088 - Synthetic construct Homo sapiens gateway clone IMAGE:100021955 5' read CCNE1 mRNA.
AB590337 - Synthetic construct DNA, clone: pFN21AE1359, Homo sapiens CCNE1 gene for cyclin E1, without stop codon, in Flexi system.
KJ890844 - Synthetic construct Homo sapiens clone ccsbBroadEn_00238 CCNE1 gene, encodes complete protein.
M73812 - Human cyclin E mRNA sequence.
KF672847 - Homo sapiens cyclin E variant ex7del (CCNE1) mRNA, complete cds, alternatively spliced.
M74093 - Human cyclin mRNA.
JD313974 - Sequence 294998 from Patent EP1572962.
JD461710 - Sequence 442734 from Patent EP1572962.
JD271557 - Sequence 252581 from Patent EP1572962.
JD464038 - Sequence 445062 from Patent EP1572962.
JD462304 - Sequence 443328 from Patent EP1572962.
JD235782 - Sequence 216806 from Patent EP1572962.
JD264471 - Sequence 245495 from Patent EP1572962.
JD039247 - Sequence 20271 from Patent EP1572962.
JD129933 - Sequence 110957 from Patent EP1572962.
JD295332 - Sequence 276356 from Patent EP1572962.
JD485111 - Sequence 466135 from Patent EP1572962.
JD551335 - Sequence 532359 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_cellcyclePathway - Cyclins and Cell Cycle Regulation
h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition
h_g1Pathway - Cell Cycle: G1/S Check Point
h_p27Pathway - Regulation of p27 Phosphorylation during Cell Cycle Progression
h_p53Pathway - p53 Signaling Pathway
h_skp2e2fPathway - E2F1 Destruction Pathway
h_mcmPathway - CDK Regulation of DNA Replication
h_fbw7Pathway - Cyclin E Destruction Pathway

Reactome (by CSHL, EBI, and GO)

Protein P24864 (Reactome details) participates in the following event(s):

R-HSA-69191 Formation of Cyclin E:Cdk2 complexes
R-HSA-69199 Dephosphorylation of Cyclin E:Cdk2 complexes by Cdc25A
R-HSA-69195 Phosphorylation of Cyclin E:Cdk2 complexes by Wee-1
R-HSA-188386 Association of Rb with Cyclin E:Cdk2 complexes
R-HSA-188350 CAK-mediated phosphorylation of Cyclin E:Cdk2
R-HSA-69562 Inactivation of Cyclin E:Cdk2 complexes by p27/p21
R-HSA-157906 Translocation of Cyclin E:Cdk2 complex to the nucleus
R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone)
R-HSA-188390 Cyclin E:Cdk2-mediated phosphorylation of Rb
R-HSA-1363303 p130 (RBL2) in complex with E2F4/5:DP1/2 binds to cyclin E/A:CDK2
R-HSA-1363306 p130 (RBL2) binds Cyclin E/A:CDK2
R-HSA-1363311 p107 (RBL1) in complex with E2F4:DP1/2 binds to cyclin E/A:CDK2
R-HSA-1363314 p107 (RBL1) binds CyclinE/A:CDK2
R-HSA-8848414 Activated PTK6 binds CDKN1B
R-HSA-8848436 PTK6 phosphorylates CDKN1B
R-HSA-187520 Cyclin E/A:Cdk2-mediated phosphorylation of p27/p21
R-HSA-187552 Binding of phospho-p27/p21:Cdk2:Cyclin E/A to the SCF(Skp2):Cks1 complex
R-HSA-69005 Cdc6 protein is phosphorylated by CDK
R-HSA-187575 Ubiquitination of phospho-p27/p21
R-HSA-539107 Activation of E2F1 target genes at G1/S
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69205 G1/S-Specific Transcription
R-HSA-69563 p53-Dependent G1 DNA Damage Response
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-6804116 TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
R-HSA-69206 G1/S Transition
R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-69200 Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
R-HSA-187577 SCF(Skp2)-mediated degradation of p27/p21
R-HSA-69580 p53-Dependent G1/S DNA damage checkpoint
R-HSA-2559583 Cellular Senescence
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes
R-HSA-1538133 G0 and Early G1
R-HSA-8849470 PTK6 Regulates Cell Cycle
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6
R-HSA-69615 G1/S DNA Damage Checkpoints
R-HSA-2262752 Cellular responses to stress
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-8848021 Signaling by PTK6
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-391251 Protein folding
R-HSA-69242 S Phase
R-HSA-69052 Switching of origins to a post-replicative state
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-212436 Generic Transcription Pathway
R-HSA-9006927 Signaling by Non-Receptor Tyrosine Kinases
R-HSA-1640170 Cell Cycle
R-HSA-392499 Metabolism of proteins
R-HSA-69239 Synthesis of DNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-162582 Signal Transduction
R-HSA-69306 DNA Replication
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K684, CCNE, CCNE1_HUMAN, ENST00000262643.1, ENST00000262643.2, ENST00000262643.3, ENST00000262643.4, ENST00000262643.5, ENST00000262643.6, ENST00000262643.7, NM_001322261, P24864, Q14091, Q8NFG1, Q92501, Q9UD21, uc317hci.1, uc317hci.2
UCSC ID: ENST00000262643.8_10
RefSeq Accession: NM_001238.4
Protein: P24864 (aka CCNE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.