ENSG00000110092


Homo sapiens

Features
Gene ID: ENSG00000110092
  
Biological name :CCND1
  
Synonyms : CCND1 / cyclin D1 / P24385
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.3
Gene start: 69641087
Gene end: 69654474
  
Corresponding Affymetrix probe sets: 208711_s_at (Human Genome U133 Plus 2.0 Array)   208712_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000227507
Ensembl peptide - ENSP00000438482
NCBI entrez gene - 595     See in Manteia.
OMIM - 168461
RefSeq - NM_053056
RefSeq Peptide - NP_444284
swissprot - Q6FI00
swissprot - F5H437
swissprot - P24385
Ensembl - ENSG00000110092
  
Related genetic diseases (OMIM): 114500 - {Colorectal cancer, susceptibility to}, 114500
  193300 - {von Hippel-Lindau syndrome, modifier of}, 193300
  254500 - {Multiple myeloma, susceptibility to}, 254500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ccnd1ENSDARG00000101637Danio rerio
 CCND1ENSGALG00000007555Gallus gallus
 Ccnd1ENSMUSG00000070348Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CCND2 / P30279 / cyclin D2ENSG0000011897161
CCND3 / P30281 / cyclin D3ENSG0000011257652
CCNE1 / P24864 / cyclin E1ENSG0000010517324
CCNE2 / O96020 / cyclin E2ENSG0000017530522
CCNA1 / P78396 / cyclin A1ENSG0000013310121
CCNA2 / P20248 / cyclin A2ENSG0000014538620
CCNB1 / P14635 / cyclin B1ENSG0000013405719
CCNO / P22674 / cyclin OENSG0000015266919
CCNB3 / Q8WWL7 / cyclin B3ENSG0000014708218
CCNB2 / O95067 / cyclin B2ENSG0000015745616


Protein motifs (from Interpro)
Interpro ID Name
 IPR004367  Cyclin, C-terminal domain
 IPR006671  Cyclin, N-terminal
 IPR013763  Cyclin-like
 IPR015451  Cyclin D
 IPR036915  Cyclin-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle IEA
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IDA
 biological_processGO:0000320 re-entry into mitotic cell cycle IEA
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007595 lactation IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010039 response to iron ion IEA
 biological_processGO:0010165 response to X-ray IEA
 biological_processGO:0010243 response to organonitrogen compound IEA
 biological_processGO:0010971 positive regulation of G2/M transition of mitotic cell cycle IDA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030178 negative regulation of Wnt signaling pathway IEA
 biological_processGO:0030857 negative regulation of epithelial cell differentiation IEA
 biological_processGO:0030968 endoplasmic reticulum unfolded protein response IEA
 biological_processGO:0031100 animal organ regeneration IEA
 biological_processGO:0031571 mitotic G1 DNA damage checkpoint IDA
 biological_processGO:0032026 response to magnesium ion IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0033197 response to vitamin E IEA
 biological_processGO:0033327 Leydig cell differentiation IEA
 biological_processGO:0033598 mammary gland epithelial cell proliferation IEA
 biological_processGO:0033601 positive regulation of mammary gland epithelial cell proliferation IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0044321 response to leptin IDA
 biological_processGO:0045444 fat cell differentiation IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045737 positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
 biological_processGO:0045787 positive regulation of cell cycle TAS
 biological_processGO:0045859 regulation of protein kinase activity IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0051301 cell division IEA
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0051412 response to corticosterone IEA
 biological_processGO:0051592 response to calcium ion IEA
 biological_processGO:0051726 regulation of cell cycle IEA
 biological_processGO:0060070 canonical Wnt signaling pathway IEA
 biological_processGO:0060749 mammary gland alveolus development IEA
 biological_processGO:0070141 response to UV-A IDA
 biological_processGO:0071157 negative regulation of cell cycle arrest IDA
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:2000045 regulation of G1/S transition of mitotic cell cycle IEA
 cellular_componentGO:0000307 cyclin-dependent protein kinase holoenzyme complex IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0017053 transcriptional repressor complex IDA
 molecular_functionGO:0003714 transcription corepressor activity IDA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004693 cyclin-dependent protein serine/threonine kinase activity EXP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IPI
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0070064 proline-rich region binding IDA


Pathways (from Reactome)
Pathway description
SCF(Skp2)-mediated degradation of p27/p21
Pre-NOTCH Transcription and Translation
RMTs methylate histone arginines
Interleukin-4 and Interleukin-13 signaling
Ubiquitin-dependent degradation of Cyclin D1
Cyclin D associated events in G1
PTK6 Regulates Cell Cycle
Transcriptional regulation by RUNX2
Regulation of RUNX1 Expression and Activity
RUNX3 regulates WNT signaling
RUNX3 regulates p14-ARF
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000014 Abnormality of the bladder 
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 HP:0000098 Increased body height 
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 HP:0000100 Nephrotic syndrome 
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000938 Osteopenia "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators]
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0001903 Anemia 
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 HP:0001919 Acute renal failure 
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 HP:0001945 Fever 
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 HP:0002039 Anorexia 
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 HP:0002152 Hyperproteinemia 
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 HP:0002176 Spinal cord compression 
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 HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
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 HP:0002653 Bone pain 
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 HP:0002716 Lymphadenopathy 
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 HP:0002756 Pathologic fracture "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators]
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 HP:0002953 Vertebral compression fractures 
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 HP:0003072 Hypercalcemia "A level of blood calcium that is higher than normal." [HPO:curators]
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 HP:0003237 Increased IgG level "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson]
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 HP:0003259 Increased creatinine 
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 HP:0003261 Increased IgA level "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson]
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 HP:0003324 Generalized muscle weakness "Generalized weakness or decreased strength of the muscles." [HPO:curators]
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0004313 Reduced immunoglobulin levels 
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 HP:0004341 Abnormality of vitamin B12 metabolism 
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 HP:0005561 Generalized abnormality of the bone marrow 
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 HP:0011024 Abnormality of the gastrointestinal tract "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson]
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 HP:0012191 B-cell lymphoma "A type of lymphoma that originates in B-cells." [HPO:probinson]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012719 Functional abnormality of the gastrointestinal tract "Abnormal functionality of the gastrointestinal tract." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100462 PRMT5 / O14744 / protein arginine methyltransferase 5  / complex
 ENSG00000124762 CDKN1A / P38936 / cyclin dependent kinase inhibitor 1A  / reaction / complex
 ENSG00000068024 HDAC4 / P56524 / histone deacetylase 4  / complex / reaction
 ENSG00000135446 CDK4 / P11802 / cyclin dependent kinase 4  / complex / reaction
 ENSG00000080839 RBL1 / P28749 / RB transcriptional corepressor like 1  / reaction
 ENSG00000116455 WDR77 / Q9BQA1 / WD repeat domain 77  / complex
 ENSG00000020633 RUNX3 / Q13761 / runt related transcription factor 3  / complex / reaction
 ENSG00000111276 CDKN1B / P46527 / cyclin dependent kinase inhibitor 1B  / reaction / complex
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / reaction / complex
 ENSG00000198176 TFDP1 / Q14186 / transcription factor Dp-1  / reaction
 ENSG00000204256 BRD2 / P25440 / bromodomain containing 2  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex
 ENSG00000103479 RBL2 / Q08999 / RB transcriptional corepressor like 2  / reaction
 ENSG00000114126 TFDP2 / Q14188 / transcription factor Dp-2  / reaction
 ENSG00000133740 E2F5 / Q15329 / E2F transcription factor 5  / reaction
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / complex / reaction
 ENSG00000139687 RB1 / P06400 / RB transcriptional corepressor 1  / reaction
 ENSG00000205250 E2F4 / Q16254 / E2F transcription factor 4  / reaction
 ENSG00000082701 GSK3B / P49841 / glycogen synthase kinase 3 beta  / reaction
 ENSG00000134480 CCNH / P51946 / cyclin H  / reaction
 ENSG00000020426 MNAT1 / P51948 / MNAT1, CDK activating kinase assembly factor  / reaction
 ENSG00000105810 CDK6 / Q00534 / cyclin dependent kinase 6  / reaction / complex
 ENSG00000134058 CDK7 / P50613 / cyclin dependent kinase 7  / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / reaction
 ENSG00000172301 COPRS / Q9NQ92 / coordinator of PRMT5 and differentiation stimulator  / complex / reaction






 

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