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CCND1 (B-cell leukemia/lymphoma 1)

Identity

Other namesBCL1 (B-cell leukemia/lymphoma 1)
PRAD1 (parathyroid adenomatosis 1)
HGNC (Hugo) CCND1
LocusID (NCBI) 595
Location 11q13.3
Location_base_pair Starts at 69455873 and ends at 69469242 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  BCL1 (11q13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

Description 5 exons
Transcription major transcript: 4.5 kb; coding sequence: CDS 148...1035

Protein

Description the gene encodes the cyclin D1; 295 amino acids; 36 kDa
Expression no normal expression in lymphocytes; cell cycle dependant expression: maximal expression in G1, minimal in S
Localisation mainly nuclear
Function cell cycle control: G1 progression and G1/S transition; forms complexes with CDK4 and 6, and further with RB1; phosphorylation of RB1 by cyclin D1/CDK4 removes the cell cycle arrestin G1/S start point; inhibited by P21, P15, and P16.
Homology with other cyclins

Implicated in

Entity t(11;14)(q13;q32)/B-cell malignancies --> BCL1 - IgH
Disease t(11;14) is mainly found in mantle cell lymphoma; also in: B-prolymphocytic leukaemia, plasma cell leukaemia, splenic lymphoma with villous lymphocytes; rarely in: chronic lymphocytic leukaemia, multiple myeloma
Prognosis according to the disease
Cytogenetics complex karyotypes
Hybrid/Mutated Gene 5' BCL1 translocated on chromosome 14 near JH (junctions genes of IgH) and C in 3'.
Abnormal Protein no fusion protein, but promoter exchange; the immunoglobulin gene enhancer stimulates the expression of BCL1.
Oncogenesis overexpression of BCL1 accelerates the cell transit through the G1 phase.
  
Entity parathyroid adenomatosis
Hybrid/Mutated Gene with PTH, the parathyroid hormone gene, sitting in 11p15
  

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057
t0814ID1050 8p11inMPDID1091 inv8p11q13ID1189 PrimarCutanALCLID2118 t0708q34p11ID1409

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001 colon5006

External links

Nomenclature
HGNC (Hugo)CCND1   1582
Cards
AtlasBCL1
Entrez_Gene (NCBI)CCND1  595  cyclin D1
GeneCards (Weizmann)CCND1
Ensembl (Hinxton)ENSG00000110092 [Gene_View]  chr11:69455873-69469242 [Contig_View]  CCND1 [Vega]
ICGC DataPortalENSG00000110092
cBioPortalCCND1
AceView (NCBI)CCND1
Genatlas (Paris)CCND1
WikiGenes595
SOURCE (Princeton)NM_053056
Genomic and cartography
GoldenPath (UCSC)CCND1  -  11q13.3   chr11:69455873-69469242 +  11q13   [Description]    (hg19-Feb_2009)
EnsemblCCND1 - 11q13 [CytoView]
Mapping of homologs : NCBICCND1 [Mapview]
OMIM168461   193300   254500   
Gene and transcription
Genbank (Entrez)AB075505 AK299044 AK313136 AM393193 AM393430
RefSeq transcript (Entrez)NM_053056
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_007375 NT_167190 NW_001838027 NW_004929380
Consensus coding sequences : CCDS (NCBI)CCND1
Cluster EST : UnigeneHs.523852 [ NCBI ]
CGAP (NCI)Hs.523852
Alternative Splicing : Fast-db (Paris)GSHG0005060
Alternative Splicing GalleryENSG00000110092
Gene ExpressionCCND1 [ NCBI-GEO ]     CCND1 [ SEEK ]   CCND1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24385 (Uniprot)
NextProtP24385  [Medical]
With graphics : InterProP24385
Splice isoforms : SwissVarP24385 (Swissvar)
Domaine pattern : Prosite (Expaxy)CYCLINS (PS00292)   
Domains : Interpro (EBI)Cyclin-like [organisation]   Cyclin_A/B/D/E/F [organisation]   Cyclin_C-dom [organisation]   Cyclin_D [organisation]   Cyclin_N [organisation]  
Related proteins : CluSTrP24385
Domain families : Pfam (Sanger)Cyclin_C (PF02984)    Cyclin_N (PF00134)   
Domain families : Pfam (NCBI)pfam02984    pfam00134   
Domain families : Smart (EMBL)CYCLIN (SM00385)  
DMDM Disease mutations595
Blocks (Seattle)P24385
PDB (SRS)2W96    2W99    2W9F    2W9Z   
PDB (PDBSum)2W96    2W99    2W9F    2W9Z   
PDB (IMB)2W96    2W99    2W9F    2W9Z   
PDB (RSDB)2W96    2W99    2W9F    2W9Z   
Human Protein AtlasENSG00000110092 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP24385
HPRD01346
IPIIPI00028098   IPI01009315   IPI00815934   IPI01013571   IPI01013164   IPI01011321   
Protein Interaction databases
DIP (DOE-UCLA)P24385
IntAct (EBI)P24385
FunCoupENSG00000110092
BioGRIDCCND1
InParanoidP24385
Interologous Interaction database P24385
IntegromeDBCCND1
STRING (EMBL)CCND1
Ontologies - Pathways
Ontology : AmiGOG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  re-entry into mitotic cell cycle  liver development  positive regulation of protein phosphorylation  transcription corepressor activity  protein kinase activity  protein binding  intracellular  nucleus  nucleoplasm  nucleolus  cytosol  tight junction  transcription, DNA-templated  protein phosphorylation  cellular response to DNA damage stimulus  Notch signaling pathway  lactation  transcription factor binding  response to iron ion  response to X-ray  response to organonitrogen compound  positive regulation of G2/M transition of mitotic cell cycle  membrane  cyclin-dependent protein serine/threonine kinase regulator activity  transcriptional repressor complex  enzyme binding  protein kinase binding  negative regulation of Wnt signaling pathway  negative regulation of epithelial cell differentiation  endoplasmic reticulum unfolded protein response  organ regeneration  mitotic G1 DNA damage checkpoint  response to magnesium ion  protein complex binding  response to vitamin E  Leydig cell differentiation  mammary gland epithelial cell proliferation  positive regulation of mammary gland epithelial cell proliferation  response to drug  histone deacetylase binding  response to estrogen  fat cell differentiation  response to ethanol  positive regulation of cyclin-dependent protein serine/threonine kinase activity  cell division  response to corticosterone  response to calcium ion  canonical Wnt signaling pathway  mammary gland alveolus development  proline-rich region binding  response to UV-A  negative regulation of cell cycle arrest  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  G1/S transition of mitotic cell cycle  negative regulation of transcription from RNA polymerase II promoter  mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  re-entry into mitotic cell cycle  liver development  positive regulation of protein phosphorylation  transcription corepressor activity  protein kinase activity  protein binding  intracellular  nucleus  nucleoplasm  nucleolus  cytosol  tight junction  transcription, DNA-templated  protein phosphorylation  cellular response to DNA damage stimulus  Notch signaling pathway  lactation  transcription factor binding  response to iron ion  response to X-ray  response to organonitrogen compound  positive regulation of G2/M transition of mitotic cell cycle  membrane  cyclin-dependent protein serine/threonine kinase regulator activity  transcriptional repressor complex  enzyme binding  protein kinase binding  negative regulation of Wnt signaling pathway  negative regulation of epithelial cell differentiation  endoplasmic reticulum unfolded protein response  organ regeneration  mitotic G1 DNA damage checkpoint  response to magnesium ion  protein complex binding  response to vitamin E  Leydig cell differentiation  mammary gland epithelial cell proliferation  positive regulation of mammary gland epithelial cell proliferation  response to drug  histone deacetylase binding  response to estrogen  fat cell differentiation  response to ethanol  positive regulation of cyclin-dependent protein serine/threonine kinase activity  cell division  response to corticosterone  response to calcium ion  canonical Wnt signaling pathway  mammary gland alveolus development  proline-rich region binding  response to UV-A  negative regulation of cell cycle arrest  
Pathways : BIOCARTAInactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]    Cyclins and Cell Cycle Regulation [Genes]    Cell Cycle: G1/S Check Point [Genes]    WNT Signaling Pathway [Genes]    p53 Signaling Pathway [Genes]    BTG family proteins and cell cycle regulation [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Influence of Ras and Rho proteins on G1 to S Transition [Genes]   
Pathways : KEGGFoxO signaling pathway    Cell cycle    p53 signaling pathway    PI3K-Akt signaling pathway    Wnt signaling pathway    Hippo signaling pathway    Focal adhesion    Jak-STAT signaling pathway    Prolactin signaling pathway    Thyroid hormone signaling pathway    Hepatitis B    Measles    HTLV-I infection    Pathways in cancer    Viral carcinogenesis    Proteoglycans in cancer    MicroRNAs in cancer    Colorectal cancer    Pancreatic cancer    Endometrial cancer    Glioma    Prostate cancer    Thyroid cancer    Melanoma    Bladder cancer    Chronic myeloid leukemia    Acute myeloid leukemia    Small cell lung cancer    Non-small cell lung cancer    Viral myocarditis   
Protein Interaction DatabaseCCND1
Wikipedia pathwaysCCND1
Gene fusion - rearrangments
Rearrangement : TICdbCCND1 [11q13.3]  -  FSTL3 [11q21]
Rearrangement : TICdb- [-]  -  CCND1 [16p13.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CCND1
snp3D : Map Gene to Disease595
SNP (GeneSNP Utah)CCND1
SNP : HGBaseCCND1
Genetic variants : HAPMAPCCND1
Exome VariantCCND1
1000_GenomesCCND1 
ICGC programENSG00000110092 
Cancer Gene: CensusCCND1 
Somatic Mutations in Cancer : COSMICCCND1 
CONAN: Copy Number AnalysisCCND1 
Mutations and Diseases : HGMDCCND1
Mutations and Diseases : intOGenCCND1
Genomic VariantsCCND1  CCND1 [DGVbeta]
dbVarCCND1
ClinVarCCND1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM168461    193300    254500   
MedgenCCND1
GENETestsCCND1
Disease Genetic AssociationCCND1
Huge Navigator CCND1 [HugePedia]  CCND1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCCND1
Homology/Alignments : Family Browser (UCSC)CCND1
Phylogenetic Trees/Animal Genes : TreeFamCCND1
Chemical/Protein Interactions : CTD595
Chemical/Pharm GKB GenePA75
Drug Sensitivity CCND1
Clinical trialCCND1
Cancer Resource (Charite)ENSG00000110092
Other databases
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=CCND1
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineCCND1
iHOPCCND1
OncoSearchCCND1

Bibliography

PRAD1, a candidate BCL1 oncogene: mapping and expression in centrocytic lymphoma.
Rosenberg CL, Wong E, Petty EM, Bale AE, Tsujimoto Y, Harris NL, Arnold A
Proceedings of the National Academy of Sciences of the United States of America. 1991 ; 88 (21) : 9638-9642.
PMID 1682919
 
Rearrangement and overexpression of the BCL-1/PRAD-1 gene in intermediate lymphocytic lymphomas and in t(11q13)-bearing leukemias.
Rimokh R, Berger F, Delsol G, Charrin C, Berthˆ©as MF, Ffrench M, Garoscio M, Felman P, Coiffier B, Bryon PA
Blood. 1993 ; 81 (11) : 3063-3067.
PMID 8499640
 
PRAD-1/cyclin D1 gene overexpression in chronic lymphoproliferative disorders: a highly specific marker of mantle cell lymphoma.
Bosch F, Jares P, Campo E, Lopez-Guillermo A, Piris MA, Villamor N, Tassies D, Jaffe ES, Montserrat E, Rozman C
Blood. 1994 ; 84 (8) : 2726-2732.
PMID 7919385
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written05-1998Jean-Loup Huret

Citation

This paper should be referenced as such :
Huret, JL
BCL1 (B-cell leukemia/lymphoma 1)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):111-112.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/BCL1.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 15:27:36 CEST 2014

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