CCND1 cyclin D1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 11q13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (69641156..69654474)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (69658031..69671351)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (69455924..69469242)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of Cyclin D1 in Urothelial Carcinoma of Urinary Bladder and its Association with Tumour Grade.
Title: Expression of Cyclin D1 in Urothelial Carcinoma of Urinary Bladder and its Association with Tumour Grade.
Cyclin D1 extensively reprograms metabolism to support biosynthetic pathways in hepatocytes.
Title: Cyclin D1 extensively reprograms metabolism to support biosynthetic pathways in hepatocytes.
LncRNA FOXD3-AS1 Contributes to Glioblastoma Progression Via Sponging miR-3918 to Upregulate CCND1.
Title: LncRNA FOXD3-AS1 Contributes to Glioblastoma Progression Via Sponging miR-3918 to Upregulate CCND1.
FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1.
Title: FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1.
The oncogene cyclin D1 promotes bipolar spindle integrity under compressive force.
Title: The oncogene cyclin D1 promotes bipolar spindle integrity under compressive force.
Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
Title: Overexpression of Alpha-1 Antitrypsin Increases the Proliferation of Mesenchymal Stem Cells by Upregulation of Cyclin D1.
G-quadruplexes promote the motility in MAZ phase-separated condensates to activate CCND1 expression and contribute to hepatocarcinogenesis.
Title: G-quadruplexes promote the motility in MAZ phase-separated condensates to activate CCND1 expression and contribute to hepatocarcinogenesis.
MiR-623 links lncRNA RP11-89 and cyclin D1 to regulate the proliferation of glioblastoma cells.
Title: MiR-623 links lncRNA RP11-89 and cyclin D1 to regulate the proliferation of glioblastoma cells.
Optical genomic mapping is a helpful tool for detecting CCND1 rearrangements in CD5-negative small B-cell lymphoma: Two cases of leukemic non-nodal mantle cell lymphoma.
Title: Optical genomic mapping is a helpful tool for detecting CCND1 rearrangements in CD5-negative small B-cell lymphoma: Two cases of leukemic non-nodal mantle cell lymphoma.
Periodic changes of cyclin D1 mRNA stability are regulated by PC4 modifications in the cell cycle.
Title: Periodic changes of cyclin D1 mRNA stability are regulated by PC4 modifications in the cell cycle.

Submit: New GeneRIF Correction See all GeneRIFs (1451)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC98458P1 (e-PCR)
- UniSTS:273670

CCND1_504 (e-PCR)
- UniSTS:277058

GDB:197910 (e-PCR)
- UniSTS:156001

GDB:181402 (e-PCR)
- UniSTS:155239

PMC133966P1 (e-PCR)
- UniSTS:270697

PMC303366P1 (e-PCR)
- UniSTS:272506

GDB:371378 (e-PCR)
- UniSTS:156843

PMC196063P1 (e-PCR)
- UniSTS:271793

PMC154232P2 (e-PCR)
- UniSTS:271302

PMC321442P2 (e-PCR)
- UniSTS:273110

CCND1 (e-PCR)
- UniSTS:47064

WI-16756 (e-PCR)
- UniSTS:1246

RH67810 (e-PCR)
- UniSTS:83197

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cyclin-dependent protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables cyclin-dependent protein serine/threonine kinase activator activity	TAS Traceable Author Statement more info	PubMed
enables cyclin-dependent protein serine/threonine kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
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 transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

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 regulation of cyclin-dependent protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor 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
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
part_of cyclin D1-CDK4 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
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

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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)

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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.

Genomic

NG_007375.1 RefSeqGene

Range

5001..18370

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_990

mRNA and Protein(s)

NM_053056.3 → NP_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:3 → 151

CYCLIN_CCND1_rpt1; first cyclin box found in G1/S-specific cyclin-D1 (CCND1)

cd20576
Location:156 → 265

CYCLIN_CCND1_rpt2; second cyclin box found in G1/S-specific cyclin-D1 (CCND1)