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CCND1 cyclin D1 [ Homo sapiens (human) ]

Gene ID: 595, updated on 17-May-2020

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

Genomic context

See CCND1 in Genome Data Viewer
Location:
11q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (69641156..69654474)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69455873..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
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

NHGRI 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.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome-wide association study identifies five new breast cancer susceptibility loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
NHGRI GWA 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
proline-rich region binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
endoplasmic reticulum unfolded protein response IEA
Inferred from Electronic Annotation
more info
 
fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
liver regeneration IEA
Inferred from Electronic Annotation
more info
 
mammary gland alveolus development IEA
Inferred from Electronic Annotation
more info
 
mammary gland epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
mitotic G1 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cell cycle phase transition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of G2/M transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell cycle TAS
Traceable Author Statement
more info
 
positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mammary gland epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
re-entry into mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
regulation of cyclin-dependent protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV-A IDA
Inferred from Direct Assay
more info
PubMed 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
response to corticosterone IEA
Inferred from Electronic Annotation
more info
 
response to drug IEP
Inferred from Expression Pattern
more info
PubMed 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to iron ion IEA
Inferred from Electronic Annotation
more info
 
response to leptin IDA
Inferred from Direct Assay
more info
PubMed 
response to magnesium ion IEA
Inferred from Electronic Annotation
more info
 
response to organonitrogen compound IEA
Inferred from Electronic Annotation
more info
 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cyclin-dependent protein kinase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional 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)

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
    pfam00134
    Location:31153
    Cyclin_N; Cyclin, N-terminal domain
    pfam02984
    Location:156269
    Cyclin_C; Cyclin, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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