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FLASH GENE
Symbol CCND1 last update : 28-03-2009
HGNC name cyclin D1
HGNC id 1582
Corresponding disease
BCL1 leukemia chronic lymphocytic
Location 11q13.2
Synonym name
  • PRAD1 oncogene
  • parathyroid adenomatosis 1
  • G1/S-specific cyclin-D1
  • BCL-1 oncogene
    • Synonym symbol(s) PRAD1, U21B31, D11S287E, BCL1
    DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
    DNABack to top
    TYPE functioning gene
    STRUCTURE 13.37 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    Binding site   transcription factor
    text structure cryptic promoter regulating expression of cyclin D1 and tumor cell growth
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC387785 11 LOC387785 LOC390217 11 similar to chromosome 11 open reading frame2; chromosome 11 open reading frame2 LOC341128 11q13.1 similar to seven transmembrane helix receptor UNC93B1 11q13 unc-93 homolog B1 (C. elegans) ALDH3B1 11q13 aldehyde dehydrogenase 3 family, member B1 NDUFS8 11q13 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) TCIRG1 11q13.4-q13.5 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 CHK 11q13.1 choline kinase CGI-85 11q13 choline kinase C11orf24 11q13 chromosome 11 open reading frame 24 LRP5 11q13 low density lipoprotein receptor-related protein 5 C11orf23 11q13 chromosome 11 open reading frame 23 GAL 11q13.3-q13.5 galanin MTL5 11q13.2-q13.3 metallothionein-like 5, testis-specific (tesmin) CPT1A 11q13.1-q13.2 carnitine palmitoyltransferase 1A (liver) MRPL21 11q13.1 mitochondrial ribosomal protein L21 IGHMBP2 11q13.2-q13.4 immunoglobulin mu binding protein 2 MRGD 11 mas-related G protein-coupled MRGD MGC21621 11q13.1 G protein-coupled receptor MrgF TPCN2 11q13.1 two pore segment channel 2 LOC338694 11q13.2 hypothetical protein LOC338694 MYEOV 11q13.1 myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas) LOC390218 11 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC220061 11q13.2 similar to proline rich antigen 2 CCND1 11q13.3 cyclin D1 (PRAD1: parathyroid adenomatosis 1) ORAOV1 11q13 oral cancer overexpressed 1 FGF19 11q13.1 fibroblast growth factor 19 FGF4 11q13.3 fibroblast growth factor 4 (heparin secretory transforming protein 1, Kaposi sarcoma oncogene) FGF3 11q13.3 fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ORAOV2 11q13.2 oral cancer overexpressed 2 FADD 11q13.3 Fas (TNFRSF6)-associated via death domain PPFIA1 11q13.3-q13.5 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 EMS1 11q13.3 ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate) SHANK2 11q11 SH3 and multiple ankyrin repeat domains 2 LOC220070 11q13.2 hypothetical protein BC004224 LOC341140 11q13.2 similar to Actin, alpha 1, skeletal muscle DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125
    RNABack to top
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionauthors
    CCND1 5 polyA site 4304 33.6 295 abundant in the glioblastoma cell line Xiong (1991)
    CCND1b - splicing - - - - Wang (2008)
  • selectively associated with disease outcomes (Wang 2008)
  • readily detectable in a number of cancer cell lines and primary breast cancers (Wang 2008)
  • aberrantly regulated and could contribute to therapeutic failure in the context of ER-positive breast cancer (Wang 2008)
    • EXPRESSION / SUBCELLULAR LOCALIZATIONBack to top
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    blood / hematopoieticthymus    
    Cardiovascularvessel    
    Endocrinethyroid    
    Reproductivefemale systembreastmammary gland  
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Connective    
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    cell cycle     cell cycle, checkpoint, G1S
    Text tissue
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    PROTEINBack to top
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cyclin C terminal domain
  • cyclin N terminal domain
    • HOMOLOGY
    interspecies
     
    		 homolog to murine Ccnd1
    intraspecies
     
    Homologene
    FAMILY
  • cyclin family
  • cyclin D subfamily
    • CATEGORY regulatory
    basic FUNCTION
  • regulator of progression through G1 phase during the cell cycle 1, involved with CDK4 in phosphorylating retinoblastoma protein
  • involved in normal regulation of the cell cycle and plays an important role in the transition from G1 to S phase of the cell cycle
  • cytosolic cyclin D1 is able to regulate apoptosis by interaction with BAX in low-dose ionizing radiation -induced adaptive resistance (Ahmed 2008)
  • STAT5A-regulated transcription
  • playing a crucial role in adipocyte differentiation by regulating mitotic clonal expansion
  • key molecule for transition between the G1 and S phases of the cell-cycle, and amplification or overexpression of cyclin D1 plays pivotal roles in the development of several human cancers (Choo 2009)
    • CELLULAR PROCESS cell cycle, checkpoint
    PHYSIOLOGICAL PROCESS
    text cytokinesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of activating factor 2 (ATF2) in chondrocytes
  • communication between ATM and cyclin D1 may be required for maintenance of genomic integrity achieved by rapid arrest of the cell-cycle, and that disruption of this crosstalk may increase susceptibility to cancer (Choo 2009)
  • interacting with INSM1 (interaction could disrupt CDK4 binding during the normal cell cycle) (Zhang 2009)
    • cell & other
    REGULATION
    activated by promoter activated by JUN
    induced by Hedgehog for regulating cell growth and proliferation
    repressed by JUNB
    ASSOCIATED DISORDERSBack to top
    corresponding disease(s) BCL1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with TACSTD2 in cancer cells, fused with Igh in t(11;14) (q13;q32)
    tumoral   amplification    
    amplified in mantle cell lymphoma(same as BCL1, D11S287E), endometrial cancer
    tumoral     low  
    in T-cell leukemia
    tumoral   translocation    
    t(6;11)(p21;q13), t(1;11)(p13;q13), t(7;11)(q11.2;q13), and t(5;11)(q35; q13) in renal oncocytoma
    tumoral     over  
    in parathyroid adenoma, breast (stimulatory effect of estradiol and prolactin) carcinoma
    tumoral   amplification    
    coamplified with SHANK2, and CTT1 in oral squamous cell carcinoma
    tumoral   deletion    
    deletion in mantle cell lymphoma, associated with increased proliferation rate and shorter survival
    tumoral   translocation    
    in parathyroid adenomas (Yi 2008)
    tumoral   amplification    
    in breast cancer, alone or with PPFIA1 (Dancau 2010)
    Susceptibility
  • to colorectal carcinoma (non polyposis)
  • to lung cancer in smokers from north India
  • to HELLP syndrome
    • Variant & Polymorphism
  • polymorphism modifying the age at onset of colorectal cancer
  • A870G gene polymorphisms may increase the risk of lung cancer in smokers from north India
  • polymorphisms
    • Candidate gene polymorphisms N363S associated with the development of HELLP syndrome (Bertalan 2009)
    Marker
    Therapy target
    animal or cellular model