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    CCNE1 cyclin E1 [ Homo sapiens (human) ]

    Gene ID: 898, updated on 17-Jun-2024

    Summary

    Official Symbol
    CCNE1provided by HGNC
    Official Full Name
    cyclin E1provided by HGNC
    Primary source
    HGNC:HGNC:1589
    See related
    Ensembl:ENSG00000105173 MIM:123837; AllianceGenome:HGNC:1589
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCNE; pCCNE1
    Summary
    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 distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
    Expression
    Biased expression in placenta (RPKM 16.5), bone marrow (RPKM 11.3) and 12 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCNE1 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (29811991..29824312)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (32337722..32350035)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (30302898..30315219)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14417 Neighboring gene chromosome 19 open reading frame 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14418 Neighboring gene uncharacterized LOC107985345 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:30219444-30219638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30235811-30236312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30236313-30236812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30248109-30248688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30248689-30249267 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50922 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:30283256-30283456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30348658-30349496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30349497-30350334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10470 Neighboring gene Sharpr-MPRA regulatory region 11671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:30373138-30373673 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:30418723-30419224 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:30419225-30419724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10473 Neighboring gene peptidylprolyl isomerase A pseudogene 58 Neighboring gene URI1 prefoldin like chaperone Neighboring gene ribosomal protein L9 pseudogene 32

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The V3 loop of HIV-1 gp120 induces G1 arrest in IL-2-dependent cell cycle progression by reducing cyclin E expression and phosphorylation of retinoblastoma protein (pRb) PubMed
    Nef nef HIV-1 Nef induces the downregulation of cyclin E expression in podocytes PubMed
    Tat tat HIV-1 Tat 41/44 peptide TAALS from the core domain of Tat inhibits Tat-mediated HIV-1 gene expression and replication by binding the Cdk2/Cyclin E complex and inhibiting the phosphorylation of serine 5 of RNAPII PubMed
    tat Cdk2/cyclin E stimulates Tat-dependent HIV-1 transcription PubMed
    tat HIV-1 Tat induces Cyclin E-associated cdk activity in lymphocytes, indicating Tat drives cells to the late G1 phase of the cell cycle PubMed
    tat HIV-1 Tat induces a G1 arrest in cells of glial origin, leading to a downregulation of cyclin E-Cdk2 kinase activity and phosphorylation of Rb PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cyclin-dependent protein serine/threonine kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA replication initiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homologous chromosome pairing at meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of mesenchymal stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in telomere maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cyclin E1-CDK2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cyclin E1-CDK2 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001238.4NP_001229.1  G1/S-specific cyclin-E1 isoform 1

      See identical proteins and their annotated locations for NP_001229.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as cyclin EL) encodes isoform 1, also known as isoform E1L.
      Source sequence(s)
      AC008798, AK291549, BC035498, BQ018270
      Consensus CDS
      CCDS12419.1
      UniProtKB/Swiss-Prot
      A8K684, P24864, Q14091, Q8NFG1, Q92501, Q9UD21
      UniProtKB/TrEMBL
      C9J2U0, V5W643
      Related
      ENSP00000262643.3, ENST00000262643.8
      Conserved Domains (2) summary
      pfam00134
      Location:115242
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:245363
      Cyclin_C; Cyclin, C-terminal domain
    2. NM_001322259.2NP_001309188.1  G1/S-specific cyclin-E1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as cyclin ET) encodes isoform 3.
      Source sequence(s)
      AC008798, BQ018270, KF672848, KR134287
      UniProtKB/TrEMBL
      A0A0G3DHS8, C9J2U0, V5W643
      Related
      ENSP00000350625.6, ENST00000357943.9
      Conserved Domains (2) summary
      cd20579
      Location:103238
      CYCLIN_CCNE1_rpt1; first cyclin box found in G1/S-specific cyclin-E1 (CCNE1)
      cl40454
      Location:233311
      CYCLIN_SF; Cyclin box fold superfamily
    3. NM_001322261.2NP_001309190.1  G1/S-specific cyclin-E1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as cyclin Es or variant ex5del) encodes isoform 4.
      Source sequence(s)
      AC008798, BQ018270, KF672848
      UniProtKB/TrEMBL
      C9J2U0, V5W5X2, V5W643
      Conserved Domains (2) summary
      pfam00134
      Location:115193
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:196314
      Cyclin_C; Cyclin, C-terminal domain
    4. NM_001322262.2NP_001309191.1  G1/S-specific cyclin-E1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008798, AK291549, BQ018270
      Consensus CDS
      CCDS46035.1
      UniProtKB/TrEMBL
      C9J2U0, V5W643
      Related
      ENSP00000410179.2, ENST00000444983.6
      Conserved Domains (2) summary
      pfam00134
      Location:100227
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:230348
      Cyclin_C; Cyclin, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      29811991..29824312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527440.3XP_011525742.1  G1/S-specific cyclin-E1 isoform X1

      UniProtKB/TrEMBL
      C9J2U0, V5W643
      Conserved Domains (2) summary
      pfam00134
      Location:112239
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:242360
      Cyclin_C; Cyclin, C-terminal domain
    2. XM_047439606.1XP_047295562.1  G1/S-specific cyclin-E1 isoform X2

      UniProtKB/TrEMBL
      C9J2U0, V5W643

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      32337722..32350035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322497.1XP_054178472.1  G1/S-specific cyclin-E1 isoform X1

      UniProtKB/TrEMBL
      C9J2U0, V5W643
    2. XM_054322498.1XP_054178473.1  G1/S-specific cyclin-E1 isoform X2

      UniProtKB/TrEMBL
      C9J2U0, V5W643

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_057182.1: Suppressed sequence

      Description
      NM_057182.1: This RefSeq was suppressed due to concerns that it is 5' partial.