• Gene id: 595

Gene Summary

• Gene Symbol: CCND1   Gene   UCSC   Ensembl
• Aliases: BCL1, D11S287E, PRAD1, U21B31
• Gene name: cyclin D1
• Alternate names: G1/S-specific cyclin-D1, B-cell CLL/lymphoma 1, B-cell lymphoma 1 protein, BCL-1 oncogene, PRAD1 oncogene,
• Gene location: 11q13.3 (137423371: 137434405)     Exons: 15     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhi
• OMIM: 168461

SNPs

rs72609647

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.12678428T>G
NC_000024.9   g.14790357T>G|SEQ=[T/G]|GENE=TTTY15

Protein Summary

• Protein general information: P24385  
  • Name: G1/S specific cyclin D1 (B cell lymphoma 1 protein) (BCL 1) (BCL 1 oncogene) (PRAD1 oncogene)
  • Length: 295  
  • Mass: 33729
• Sequence:

  MEHQLLCCEVETIRRAYPDANLLNDRVLRAMLKAEETCAPSVSYFKCVQKEVLPSMRKIVATWMLEVCEEQKCEE
  EVFPLAMNYLDRFLSLEPVKKSRLQLLGATCMFVASKMKETIPLTAEKLCIYTDNSIRPEELLQMELLLVNKLKW
  NLAAMTPHDFIEHFLSKMPEAEENKQIIRKHAQTFVALCATDVKFISNPPSMVAAGSVVAAVQGLNLRSPNNFLS
  YYRLTRFLSRVIKCDPDCLRACQEQIEALLESSLRQAQQNMDPKAAEEEEEEEEEVDLACTPTDVRDVDI

• Structural information:
  • Protein Domains: (28..15-)
    (/note="Cyclin-N-terminal")
  • Interpro: IPR039361  IPR013763  IPR036915  IPR004367  IPR015451   IPR006671  
  • Prosite: PS00292
  • CDD: cd00043
  • PDB: 2W96 2W99 2W9F 2W9Z 5VZU 6P8E 6P8F 6P8G 6P8H
  • PDBsum: 2W96 2W99 2W9F 2W9Z 5VZU 6P8E 6P8F 6P8G 6P8H
  • DIP: 123
  • STRING: ENSP00000227507
• Other Databases: GeneCards:  CCND1  Malacards:  CCND1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IBA	biological process
GO:0044772	mitotic cell cycle phase transition	IBA	biological process
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IBA	cellular component
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000079	regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	biological process
GO:0071157	negative regulation of cell cycle arrest	IDA	biological process
GO:0031571	mitotic G1 DNA damage checkpoint	IDA	biological process
GO:0010971	positive regulation of G2/M transition of mitotic cell cycle	IDA	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0070064	proline-rich region binding	IDA	molecular function
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0044321	response to leptin	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0045787	positive regulation of cell cycle	TAS	biological process
GO:0005622	intracellular	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000082	G1/S transition of mitotic cell cycle	IEA	biological process
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IEA	cellular component
GO:0000320	re-entry into mitotic cell cycle	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0007595	lactation	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0033598	mammary gland epithelial cell proliferation	IEA	biological process
GO:0033601	positive regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010165	response to X-ray	IEA	biological process
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051592	response to calcium ion	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016538	cyclin-dependent protein serine/threonine kinase regulator activity	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0030857	negative regulation of epithelial cell differentiation	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010039	response to iron ion	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0031100	animal organ regeneration	IEA	biological process
GO:0032026	response to magnesium ion	IEA	biological process
GO:0033327	Leydig cell differentiation	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0051412	response to corticosterone	IEA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IDA	cellular component
GO:0000307	cyclin-dependent protein kinase holoenzyme complex	IDA	cellular component
GO:0000082	G1/S transition of mitotic cell cycle	TAS	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0045737	positive regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0070141	response to UV-A	IDA	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042493	response to drug	IEP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04510	Focal adhesion
hsa05203	Viral carcinogenesis
hsa05205	Proteoglycans in cancer
hsa05169	Epstein-Barr virus infection
hsa04310	Wnt signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04530	Tight junction
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04371	Apelin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05224	Breast cancer
hsa05160	Hepatitis C
hsa04110	Cell cycle
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa05162	Measles
hsa04919	Thyroid hormone signaling pathway
hsa05222	Small cell lung cancer
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa01522	Endocrine resistance
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa05214	Glioma
hsa05212	Pancreatic cancer
hsa04917	Prolactin signaling pathway
hsa05221	Acute myeloid leukemia
hsa05218	Melanoma
hsa04115	p53 signaling pathway
hsa05223	Non-small cell lung cancer
hsa04340	Hedgehog signaling pathway
hsa05213	Endometrial cancer
hsa05416	Viral myocarditis
hsa05216	Thyroid cancer
hsa05219	Bladder cancer
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Breast cancer	KEGG:H00031
Multiple myeloma	KEGG:H00010
Laryngeal cancer	KEGG:H00055
Hairy cell leukemia	KEGG:H00006
Oral cancer	KEGG:H00016
Esophageal cancer	KEGG:H00017
von Hippel-Lindau syndrome	KEGG:H00559
Mantle cell lymphoma	KEGG:H01464
Breast cancer	KEGG:H00031
Multiple myeloma	KEGG:H00010
Laryngeal cancer	KEGG:H00055
Hairy cell leukemia	KEGG:H00006
Oral cancer	KEGG:H00016
Esophageal cancer	KEGG:H00017
von Hippel-Lindau syndrome	KEGG:H00559
Mantle cell lymphoma	KEGG:H01464
mantle cell lymphoma	PMID:24060591
Non-Hodgkin lymphoma	PMID:25169547
Ductal carcinoma in situ	PMID:14612904
urinary bladder cancer	PMID:12372886
penile neoplasm	PMID:17695500
Squamous cell carcinoma	PMID:18548202
pancreatic cancer	PMID:17541034
Transitional cell carcinoma	PMID:16896691
Astrocytoma	PMID:10419598
Malignant glioma	PMID:21844184
Malignant glioma	PMID:22304571
Invasive lobular carcinoma	PMID:12203362
Invasive lobular carcinoma	PMID:12448002
pancreatic ductal adenocarcinoma	PMID:22939953
pancreatic ductal adenocarcinoma	PMID:25470788
pancreatic ductal carcinoma	PMID:17420962
lung squamous cell carcinoma	PMID:27498289
lung non-small cell carcinoma	PMID:26055143
lung non-small cell carcinoma	PMID:18715616
lung non-small cell carcinoma	PMID:16406195
lung non-small cell carcinoma	PMID:9462706
lung adenocarcinoma	PMID:26681199
lung adenocarcinoma	PMID:19355812
thyroid gland papillary carcinoma	PMID:28677753
ovarian carcinoma	PMID:18025280
pancreatic adenocarcinoma	PMID:25053516
renal cell carcinoma	PMID:17924468
renal cell carcinoma	PMID:15538282
bronchiolo-alveolar adenocarcinoma	PMID:14674039
lung small cell carcinoma	PMID:29739297
head and neck squamous cell carcinoma	PMID:9796972
pancreatic solid pseudopapillary carcinoma	PMID:19248223
hepatocellular carcinoma	PMID:25851350
cervix uteri carcinoma in situ	PMID:18301453
acute myeloid leukemia	PMID:22391157
acute myeloid leukemia	PMID:21928377
multiple myeloma	PMID:15755896
multiple myeloma	PMID:23502783
acute lymphocytic leukemia	PMID:22391157
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq