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BCL1 (B-cell leukemia/lymphoma 1)

Identity

Other namesPRAD1 (parathyroid adenomatosis 1)
HGNC (Hugo) CCND1
Location 11q13
Location_base_pair Starts at 69165054 and ends at 69178423 bp from pter ( according to hg18-Mar_2006)  [Mapping]
 
  BCL1 (11q13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

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

 

External links

Nomenclature
HGNC (Hugo)CCND1   1582
Entrez_Gene (NCBI)CCND1  595  cyclin D1
Cards
AtlasBCL1
GeneCards (Weizmann)CCND1
Ensembl (Hinxton)ENSG00000110092 [Gene_View]  CCND1 [Vega]
AceView (NCBI)CCND1
Genatlas (Paris)CCND1
euGene (Indiana)595
SOURCE (Stanford)NM_053056
Genomic and cartography
GoldenPath (UCSC)CCND1  -  11q13   chr11:69165054-69178423 +  11q13   [Description]    (hg18-Mar_2006)
EnsemblCCND1 - 11q13 [CytoView]
Mapping of homologs : NCBICCND1 [Mapview]
OMIM114500   151400   168461   193300   254500   
Gene and transcription
Gene : Genbank (Entrez)AB075505 AK299044 AK313136 AM393193 AM393430
Reference sequence (RefSeq transcript) :SRSNM_053056
Reference transcript : EntrezNM_053056
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NG_007375 NT_078088 NW_001838027 NW_925106
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NG_007375 NT_078088 NW_001838027 NW_925106
Consensus coding sequences : CCDS NCBICCND1
Cluster EST : UnigeneHs.523852 [ SRS ] Hs.523852 [ NCBI ]
Alternative Splicing : Fast-db (Paris)11064
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP24385 (SRS) P24385 (Expasy) P24385 (Uniprot)
With graphics : InterProP24385
Splice isoforms : VarSplice FASTAP24385(VarSplice FASTA)
Domaine pattern : Prosite (SRS)CYCLINS (PS00292)   
Domain pattern : Prosite (Expaxy)CYCLINS (PS00292)   
Domains : Interpro (SRS)CycD    Cyclin    Cyclin_A_B_D_E    Cyclin_C    Cyclin_N    Cyclin_related   
Domains : Interpro (EBI)CycD    Cyclin    Cyclin_A_B_D_E    Cyclin_C    Cyclin_N    Cyclin_related   
Related proteins : CluSTrP24385
Domain families : Pfam SRSCyclin_C (PF02984)    Cyclin_N (PF00134)   
Domain families : Pfam SangerCyclin_C (PF02984)    Cyclin_N (PF00134)   
Domain families : Pfam NCBIpfam02984    pfam00134   
Domain families : Smart EMBLCYCLIN (SM00385)
Blocks (Seattle)P24385
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD01346
Protein Interaction databases
DIP (DOE-UCLA)P24385
IntAct (EBI)P24385
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICCND1
SNP : GeneSNP UtahCCND1
SNP : HGBaseCCND1
Genetic variants : HAPMAPCCND1
Somatic Mutations in Cancer : COSMICCCND1 
Translocation Breakpoints in Cancer : TICdbCCND1 
Mutations and Diseases : HGMDCCND1
Hereditary diseases : OMIM114500    151400    168461    193300    254500   
Hereditary diseases : GENETests114500    151400    168461    193300    254500   
Diseases : Genetic AssociationCCND1
General knowledge
Homologs : HomoloGeneCCND1
Homology/Alignments : Family Browser UCSCCCND1
Phylogenetic Trees/Animal Genes : TreeFamCCND1
Chemical/Protein Interactions : CTD595
Keywords Ontology : AmiGOG1/S transition of mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  re-entry into mitotic cell cycle  positive regulation of protein amino acid phosphorylation  protein kinase activity  protein binding  cellular_component  intracellular  nucleus  nucleoplasm  cytosol  response to iron ion  cyclin-dependent protein kinase regulator activity  protein kinase binding  endoplasmic reticulum unfolded protein response  fat cell differentiation  positive regulation of cyclin-dependent protein kinase activity  cell division  response to calcium ion  regulation of cell cycle  response to UV-A  
Keywords Ontology : EGO-EBIG1/S transition of mitotic cell cycle  cyclin-dependent protein kinase holoenzyme complex  re-entry into mitotic cell cycle  positive regulation of protein amino acid phosphorylation  protein kinase activity  protein binding  cellular_component  intracellular  nucleus  nucleoplasm  cytosol  response to iron ion  cyclin-dependent protein kinase regulator activity  protein kinase binding  endoplasmic reticulum unfolded protein response  fat cell differentiation  positive regulation of cyclin-dependent protein kinase activity  cell division  response to calcium ion  regulation of cell cycle  response to UV-A  
Pathways : BIOCARTAInfluence of Ras and Rho proteins on G1 to S Transition [Genes]    BTG family proteins and cell cycle regulation [Genes]    CARM1 and Regulation of the Estrogen Receptor [Genes]    Cyclins and Cell Cycle Regulation [Genes]    Cell Cycle: G1/S Check Point [Genes]    Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages [Genes]    p53 Signaling Pathway [Genes]    WNT Signaling Pathway [Genes]   
Pathways : KEGGCell cycleWnt signaling pathwayFocal adhesionJak-STAT signaling pathwayColorectal cancer
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Probes : ImagenesCCND1 Related clones (RZPD - Berlin)
Literature
PubMed499 Pubmed reference(s) in Entrez
PubGeneCCND1

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. May 1998 .
URL : http://AtlasGeneticsOncology.org/Genes/BCL1.html

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indexed on : Sat Jun 27 16:40:26 CEST 2009

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