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CCNE1 cyclin E1 [ Homo sapiens (human) ]

Gene ID: 898, updated on 25-Nov-2021

Summary

Official Symbol
CCNE1provided by HGNC
Official Full Name
cyclin E1provided by HGNC
Primary source
HGNC:HGNC:1589
See related
Ensembl:ENSG00000105173 MIM:123837
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
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Genomic context

See CCNE1 in Genome Data Viewer
Location:
19q12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (29811991..29824312)
105.20201022 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

Associated conditions

Description Tests
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available

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
 
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
PubMed 
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 mitotic cell cycle phase transition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
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
PubMed 
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
PubMed 
part_of cyclin E1-CDK2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of cyclin-dependent protein kinase holoenzyme 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)

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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
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011527440.2XP_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

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.
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