U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    CCND1 cyclin D1 [ Homo sapiens (human) ]

    Gene ID: 595, updated on 9-Dec-2024

    Summary

    Official Symbol
    CCND1provided by HGNC
    Official Full Name
    cyclin D1provided by HGNC
    Primary source
    HGNC:HGNC:1582
    See related
    Ensembl:ENSG00000110092 MIM:168461; AllianceGenome:HGNC:1582
    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
    BCL1; PRAD1; U21B31; D11S287E
    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 throughout 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 CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
    Expression
    Ubiquitous expression in skin (RPKM 61.4), liver (RPKM 56.0) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCND1 in Genome Data Viewer
    Location:
    11q13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (69641156..69654474)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (69658031..69671351)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69455924..69469242)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:69290349-69291033 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:69291034-69291718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69291719-69292403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69295265-69296231 Neighboring gene long intergenic non-protein coding RNA 2747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69299754-69300291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69300292-69300830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69304402-69305070 Neighboring gene long intergenic non-protein coding RNA 1488 Neighboring gene VISTA enhancer hs1920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69314370-69314904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69316310-69316810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69324803-69325431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69325432-69326060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69328322-69328822 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69335476-69336233 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69336234-69336990 Neighboring gene MPRA-validated peak1326 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69350505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69351691-69352192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69352193-69352692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69353440-69354100 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69354185 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69367118 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69370584 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69371642 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69375393 Neighboring gene Sharpr-MPRA regulatory region 10534 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:69388143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69390821-69391383 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:69407786-69408985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69415650-69416150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69416151-69416651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69430076-69430934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69452808-69453748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:69453749-69454687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:69456195-69456897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69458416-69459160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69462137-69462880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69463625-69464368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69469698-69470635 Neighboring gene uncharacterized LOC124902704 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:69472515-69473242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69475622-69476122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:69476123-69476623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:69489913-69490413 Neighboring gene LTO1 maturation factor of ABCE1

    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
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Multiple myeloma
    MedGen: C0026764 OMIM: 254500 GeneReviews: Not available
    Compare labs
    Von Hippel-Lindau syndrome
    MedGen: C0019562 OMIM: 193300 GeneReviews: Von Hippel-Lindau Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef synergizes with IL-6 to upregulate expression of basic fibroblast growth factor and cyclin D1 in NIH3T3-induced tissues PubMed
    nef HIV-1 Nef is implicated in the upregulation of Cyclin D1 in infected podocytes and may be involved in the pathogenesis of HIV-associated nephropathy PubMed
    Tat tat Treatment with HIV-Tat and morphine activates extracellular signal-regulated kinase-1/2 (ERK1/2), upregulates p53 and p21 levels, and downregulates cyclin D1 and Akt levels in human fetal brain-derived neural precursor cells PubMed
    tat HIV-1 Tat enhances vIL-6-induced angiogenesis and tumorigenesis of fibroblasts and human endothelial cells, which correlates with upregulation of CD31, CD34, SMA, VEGF, b-FGF, and cyclin D1 expression PubMed
    tat HIV-1 Tat alters the properties of human neural precursor cells via attenuation of the cell cycle regulatory unit cyclin D1 and the mitogen-activated protein kinase (MAPK) pathway, particularly extracellular signal-related kinase 1/2 (ERK1/2) PubMed
    tat Treatment of human endothelial cells with HIV-1 Tat significantly upregulates Cyclin D1 PubMed
    tat Microarray analysis indicates HIV-1 Tat downregulates the expression of many proteins, including Cyclin PRAD1, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection 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

    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle TAS
    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 endoplasmic reticulum unfolded protein response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lactation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic G1 DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron differentiation 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 G2/M transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of mammary gland epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in re-entry into mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV-A IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to leptin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
     
    part_of cyclin D1-CDK4 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of cyclin D1-CDK6 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cyclin-dependent protein kinase holoenzyme complex IDA
    Inferred from Direct Assay
    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
     
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    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 
    part_of transcription repressor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    G1/S-specific cyclin-D1
    Names
    B-cell CLL/lymphoma 1
    B-cell lymphoma 1 protein
    BCL-1 oncogene
    PRAD1 oncogene

    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.

    Genomic

    1. NG_007375.1 RefSeqGene

      Range
      5001..18370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_990

    mRNA and Protein(s)

    1. NM_053056.3NP_444284.1  G1/S-specific cyclin-D1

      See identical proteins and their annotated locations for NP_444284.1

      Status: REVIEWED

      Source sequence(s)
      AP001888, BC001501, BM796500, X59798
      Consensus CDS
      CCDS8191.1
      UniProtKB/Swiss-Prot
      P24385, Q6LEF0
      UniProtKB/TrEMBL
      Q6FI00
      Related
      ENSP00000227507.2, ENST00000227507.3
      Conserved Domains (2) summary
      cd20573
      Location:3151
      CYCLIN_CCND1_rpt1; first cyclin box found in G1/S-specific cyclin-D1 (CCND1)
      cd20576
      Location:156265
      CYCLIN_CCND1_rpt2; second cyclin box found in G1/S-specific cyclin-D1 (CCND1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      69641156..69654474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      69658031..69671351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)