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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
11
Cytoband
q13.3
Chromosome location (bp)
69641156 - 69654474
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition 1,2,3,4,5,6. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase 7,8,9,10,11. Hypophosphorylates RB1 in early G(1) phase 12,13,14,15,16. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals 17,18,19,20. Also a substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity 21. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex 22. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner 23,24....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Cyclin, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, DNA damage, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from 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 exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Transporters Transporter channels and pores SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Head and neck cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000079[regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000082[G1/S transition of mitotic cell cycle] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000307[cyclin-dependent protein kinase holoenzyme complex] GO:0000320[re-entry into mitotic cell cycle] GO:0001889[liver development] GO:0001934[positive regulation of protein phosphorylation] GO:0003714[transcription corepressor activity] GO:0004672[protein kinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005923[bicellular tight junction] GO:0006468[protein phosphorylation] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0007595[lactation] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0010033[response to organic substance] GO:0010039[response to iron ion] GO:0010165[response to X-ray] GO:0010243[response to organonitrogen compound] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0014070[response to organic cyclic compound] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0016301[kinase activity] GO:0016538[cyclin-dependent protein serine/threonine kinase regulator activity] GO:0017053[transcription repressor complex] GO:0019899[enzyme binding] GO:0019901[protein kinase binding] GO:0030182[neuron differentiation] GO:0030857[negative regulation of epithelial cell differentiation] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0031100[animal organ regeneration] GO:0031571[mitotic G1 DNA damage checkpoint signaling] GO:0031965[nuclear membrane] GO:0032026[response to magnesium ion] GO:0032355[response to estradiol] GO:0033197[response to vitamin E] GO:0033327[Leydig cell differentiation] GO:0033598[mammary gland epithelial cell proliferation] GO:0033601[positive regulation of mammary gland epithelial cell proliferation] GO:0042826[histone deacetylase binding] GO:0043524[negative regulation of neuron apoptotic process] GO:0043627[response to estrogen] GO:0044321[response to leptin] GO:0044772[mitotic cell cycle phase transition] GO:0044877[protein-containing complex binding] GO:0045444[fat cell differentiation] GO:0045471[response to ethanol] GO:0045737[positive regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0048545[response to steroid hormone] GO:0051301[cell division] GO:0051384[response to glucocorticoid] GO:0051412[response to corticosterone] GO:0051592[response to calcium ion] GO:0051726[regulation of cell cycle] GO:0060749[mammary gland alveolus development] GO:0070064[proline-rich region binding] GO:0070141[response to UV-A] GO:0071310[cellular response to organic substance] GO:0097128[cyclin D1-CDK4 complex] GO:0097421[liver regeneration] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle] GO:2000045[regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Head and neck cancers Cancers of the digestive system Cancers of the breast and female genital organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
