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CCND1 cyclin D1 [ Homo sapiens (human) ]

Gene ID: 595, updated on 26-Jul-2021

Summary

Official Symbol
CCND1provided by HGNC
Official Full Name
cyclin D1provided by HGNC
Primary source
HGNC:HGNC:1582
See related
Ensembl:ENSG00000110092 MIM:168461
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
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Genomic context

See CCND1 in Genome Data Viewer
Location:
11q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (69641156..69654474)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69455924..69469242)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2747 Neighboring gene VISTA enhancer hs1920 Neighboring gene long intergenic non-protein coding RNA 1488 Neighboring gene LTO1 maturation factor of ABCE1 Neighboring gene fibroblast growth factor 19

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 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.
GeneReviews: Not available
Colorectal cancer
MedGen: C0009402 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
Genome-wide association study identifies five new breast cancer susceptibility loci.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Multiple myeloma
MedGen: C0026764 OMIM: 254500 GeneReviews: Not available
Compare labs
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
GeneReviews: Not available
Von Hippel-Lindau syndrome
MedGen: C0019562 OMIM: 193300 GeneReviews: Von Hippel-Lindau Syndrome
Compare labs

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

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 enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables proline-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 TAS
Traceable Author Statement
more info
PubMed 
involved_in Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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 cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
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 mitotic cell cycle phase transition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of epithelial cell differentiation 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 positive regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in re-entry into mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell cycle IDA
Inferred from Direct Assay
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 response to UV-A IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to X-ray IEA
Inferred from Electronic Annotation
more info
 
involved_in response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to corticosterone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to drug IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to estrogen IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to iron ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to leptin IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to magnesium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organonitrogen compound IEA
Inferred from Electronic Annotation
more info
 
involved_in response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
part_of cyclin-dependent protein kinase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in cytosol TAS
Traceable Author Statement
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
PubMed 
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
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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