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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.
Cancer-related genes Disease related genes Enzymes Essential proteins FDA approved drug targets Human disease related genes Plasma proteins
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
12
Cytoband
q14.1
Chromosome location (bp)
57747727 - 57756013
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]...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.
Enzymes ENZYME proteins Transferases Kinases CMGC Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Essential proteins Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082[G1/S transition of mitotic cell cycle] GO:0000166[nucleotide binding] GO:0000307[cyclin-dependent protein kinase holoenzyme complex] GO:0000785[chromatin] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004693[cyclin-dependent protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005923[bicellular tight junction] GO:0006468[protein phosphorylation] GO:0007049[cell cycle] GO:0007165[signal transduction] GO:0008284[positive regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0010468[regulation of gene expression] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0016020[membrane] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016538[cyclin-dependent protein serine/threonine kinase regulator activity] GO:0016592[mediator complex] GO:0016740[transferase activity] GO:0030332[cyclin binding] GO:0031965[nuclear membrane] GO:0032869[cellular response to insulin stimulus] GO:0032991[protein-containing complex] GO:0040014[regulation of multicellular organism growth] GO:0046626[regulation of insulin receptor signaling pathway] GO:0046890[regulation of lipid biosynthetic process] GO:0048146[positive regulation of fibroblast proliferation] GO:0050994[regulation of lipid catabolic process] GO:0051301[cell division] GO:0051726[regulation of cell cycle] GO:0060260[regulation of transcription initiation by RNA polymerase II] GO:0060612[adipose tissue development] GO:0061469[regulation of type B pancreatic cell proliferation] GO:0071222[cellular response to lipopolysaccharide] GO:0071353[cellular response to interleukin-4] GO:0097128[cyclin D1-CDK4 complex] GO:0097129[cyclin D2-CDK4 complex] GO:0097130[cyclin D3-CDK4 complex] GO:0106310[protein serine kinase activity] GO:1904628[cellular response to phorbol 13-acetate 12-myristate] GO:1904637[cellular response to ionomycin]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of the breast and female genital organs Cancers of eye, brain, and central nervous system Essential proteins Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
