BCL1 (B-cell leukemia/lymphoma 1)

Identity

Other names	PRAD1 (parathyroid adenomatosis 1)
HGNC	CCND1
Location	11q13
Location_base_pair	Starts at 69165054 and ends at 69178423 bp from pter ( according to hg18-Mar_2006).
	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	CCND1   1582
Entrez_Gene	CCND1  595  cyclin D1
	Cards
Atlas	BCL1
GeneCards	CCND1
Ensembl	CCND1 [Search_View]   ENSG00000110092 [Gene_View]  CCND1 [Vega]
Genatlas	CCND1
GeneLynx	CCND1
eGenome	CCND1
euGene	595
	Genomic and cartography
GoldenPath	CCND1  -  11q13   chr11:69165054-69178423 +  11q13   [Description]    (hg18-Mar_2006)
Ensembl	CCND1 - 11q13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CCND1
	Gene and transcription
Genbank	AB075505 [ ENTREZ ]
Genbank	AK313136 [ ENTREZ ]
Genbank	AM393193 [ ENTREZ ]
Genbank	AM393430 [ ENTREZ ]
Genbank	AM393593 [ ENTREZ ]
RefSeq	NM_053056 [ SRS ]    NM_053056 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NG_007375 [ SRS ]    NG_007375 [ ENTREZ ]
RefSeq	NT_078088 [ SRS ]    NT_078088 [ ENTREZ ]
RefSeq	NW_001838027 [ SRS ]    NW_001838027 [ ENTREZ ]
RefSeq	NW_925106 [ SRS ]    NW_925106 [ ENTREZ ]
CCDS	CCND1 CCDS - NCBI
AceView	CCND1 AceView - NCBI
Unigene	Hs.523852 [ SRS ]    Hs.523852 [ NCBI ]     HS523852 [ spliceNest ]
Fast-db	11064 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P24385 [ SRS]    P24385 [ EXPASY ]     P24385 [ INTERPRO ]     P24385 [ UNIPROT ] P24385 [ VarSplice ]
Prosite	PS00292 CYCLINS [ SRS ]    PS00292 CYCLINS [ Expasy ]
Interpro	IPR015451 CycD [ SRS ]    IPR015451 CycD [ EBI ]
Interpro	IPR006670 Cyclin [ SRS ]    IPR006670 Cyclin [ EBI ]
Interpro	IPR014400 Cyclin_A_B_D_E [ SRS ]    IPR014400 Cyclin_A_B_D_E [ EBI ]
Interpro	IPR004367 Cyclin_C [ SRS ]    IPR004367 Cyclin_C [ EBI ]
Interpro	IPR006671 Cyclin_N [ SRS ]    IPR006671 Cyclin_N [ EBI ]
Interpro	IPR013763 Cyclin_related [ SRS ]    IPR013763 Cyclin_related [ EBI ]
CluSTr	P24385
Pfam	PF02984 Cyclin_C [ SRS ]    PF02984 Cyclin_C [ Sanger ]    pfam02984 [ NCBI-CDD ]
Pfam	PF00134 Cyclin_N [ SRS ]    PF00134 Cyclin_N [ Sanger ]    pfam00134 [ NCBI-CDD ]
Smart	SM00385 CYCLIN [EMBL]
Blocks	P24385
HPRD	01346
	Protein Interaction databases
DIP	P24385
IntAct	P24385
	Polymorphism : SNP, mutations, diseases
OMIM	151400;168461;193300;254500    [ map ]
GENECLINICS	151400;168461;193300;254500
SNP	CCND1 [dbSNP-NCBI]
SNP	NM_053056 [SNP-NCI]
SNP	CCND1 [GeneSNPs - Utah]  CCND1] [HGBASE - SRS]
HAPMAP	CCND1 [HAPMAP]
COSMIC	CCND1 [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	CCND1 [Translocation breakpoints In Cancer]
HGMD	CCND1
Genetic Association	CCND1
CDC HuGE	CCND1
	General knowledge
Family Browser	CCND1 [UCSC Family Browser]
SOURCE	NM_053056
SMD	Hs.523852
SAGE	Hs.523852
GO	G1/S transition of mitotic cell cycle [Amigo]  G1/S transition of mitotic cell cycle
GO	cyclin-dependent protein kinase holoenzyme complex [Amigo]  cyclin-dependent protein kinase holoenzyme complex
GO	re-entry into mitotic cell cycle [Amigo]  re-entry into mitotic cell cycle
GO	positive regulation of protein amino acid phosphorylation [Amigo]  positive regulation of protein amino acid phosphorylation
GO	protein kinase activity [Amigo]  protein kinase activity
GO	protein binding [Amigo]  protein binding
GO	cellular_component [Amigo]  cellular_component
GO	intracellular [Amigo]  intracellular
GO	nucleus [Amigo]  nucleus
GO	nucleoplasm [Amigo]  nucleoplasm
GO	cytosol [Amigo]  cytosol
GO	cytosol [Amigo]  cytosol
GO	cell cycle [Amigo]  cell cycle
GO	response to iron ion [Amigo]  response to iron ion
GO	cyclin-dependent protein kinase regulator activity [Amigo]  cyclin-dependent protein kinase regulator activity
GO	protein kinase binding [Amigo]  protein kinase binding
GO	endoplasmic reticulum unfolded protein response [Amigo]  endoplasmic reticulum unfolded protein response
GO	fat cell differentiation [Amigo]  fat cell differentiation
GO	positive regulation of cyclin-dependent protein kinase activity [Amigo]  positive regulation of cyclin-dependent protein kinase activity
GO	cell division [Amigo]  cell division
GO	response to calcium ion [Amigo]  response to calcium ion
BIOCARTA	Influence of Ras and Rho proteins on G1 to S Transition    [Genes]
BIOCARTA	BTG family proteins and cell cycle regulation    [Genes]
BIOCARTA	CARM1 and Regulation of the Estrogen Receptor    [Genes]
BIOCARTA	Cyclins and Cell Cycle Regulation    [Genes]
BIOCARTA	Cell Cycle: G1/S Check Point    [Genes]
BIOCARTA	Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages    [Genes]
BIOCARTA	p53 Signaling Pathway    [Genes]
BIOCARTA	WNT Signaling Pathway    [Genes]
KEGG	Cell cycle
KEGG	Wnt signaling pathway
KEGG	Focal adhesion
KEGG	Jak-STAT signaling pathway
KEGG	Colorectal cancer
PubGene	CCND1
TreeFam	CCND1
CTD	595 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	CCND1 Related clones (RZPD - Berlin)
	PubMed
PubMed	464 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	05-1998	Jean-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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:37:39 2008