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    CCNE1 cyclin E1 [ Homo sapiens (human) ]

    Gene ID: 898, updated on 8-Jan-2023

    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
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    Genomic context

    See CCNE1 in Genome Data Viewer
    Location:
    19q12
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (29811991..29824312)
    110 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 chromosome 19 open reading frame 12 Neighboring gene uncharacterized LOC107985345 Neighboring gene Sharpr-MPRA regulatory region 11671 Neighboring gene peptidylprolyl isomerase A pseudogene 58

    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

    Homology

    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
    PubMed 
    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
     
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of cyclin E1-CDK2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    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
      P24864, Q9UD21
      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, V5W5X2
      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
      V5W5X2
      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/Swiss-Prot
      P24864
      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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

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

    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.