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cyclin D1 (parathyroid adenomatosis-1 [PRAD1] protein or bcl-1 proto-oncogene protein, CCND1, BCL1)
Function:
- essential for the control of the cell cycle at the G1/S (start) transition
- interacts with the CDK4 & CDK6 protein kinases to form a serine/threonine kinase holoenzyme complex; the cyclin subunit imparts substrate specificity to the complex
Structure: belongs to the cyclin family. cyclin D subfamily
Pathology:
- chromosomal translocation t(11;14)(q13;q32) involving CCND1 with immunoglobulin gene regions may be a cause of B-lymphocytic malignancy, particularly mantle-cell lymphoma; activation of CCND1 may be oncogenic by directly altering progression through the cell cycle
- chromosomal translocation t(11;11)(q13;p15) involving CCND1 with the parathyroid hormone (PTH) enhancer may be a cause of parathyroid adenomas [MIM:168461]
- chromosomal translocation t(11;14)(q13;q32) involving CCND1 with the IgH locus may be a cause of multiple myeloma
- overexpression in mantle-cell lymphoma
Laboratory:
- translocation t(11;14)(q13;q32)(CCND1,IGH) in blood/tissue
- CCND1 gene duplication
- CCND1 gene mutation
- CCND1 gene rearrangement
- BCL1/cyclin D1 Ag in tissue
Related
CDK6/cyclin D complex
cell cycle
parathyroid adenomatosis [PRAD]-1 gene, CCND1 or bcl-1
General
cyclin D
proto oncogene protein
Properties
SIZE: MW = 36 kD
entity length = 295 aa
COMPARTMENT: cytoplasm
CELL: fibroblast
MOTIF: ubiquitination site (destruction box, D-box)
SITE: N-TERMINAL
FOR-BINDING-OF: ubiquitin
PEST region
cyclin box
FOR-BINDING-OF: cyclin-dependent kinase
LXC motif
FOR-BINDING-OF: retinoblastoma-associated protein
glutamate-rich region
MOTIF: glutamate residue (9)
References
- Motokura T et al
A novel cyclin encoded by a bcl1-linked candidate oncogene.
Nature. 1991 Apr 11;350(6318):512-5.
PMID: 1826542
- Ross CA et al
Genes with triplet repeats: candidate mediators of
neuropsychiatric disorders.
Trends Neurosci. 1993 Jul;16(7):254-60. Review.
PMID: 7689767
- Atlas of genetics & cytogenetics in oncology & haematology
http://atlasgeneticsoncology.org/genes/BCL1.html
- The Singapore human mutation and polymorphism database
http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CCND1
- UniProt :accession P24385
Component-of
CDK4/cyclin D1 complex
Databases & Figures
OMIM correlations
UniProt P24385
PFAM correlations
Entrez Gene 595
Kegg hsa:595
RTK -> PI-3-kinase -> Akt -> ...