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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.
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
14
Cytoband
q23.1
Chromosome location (bp)
60734742 - 60969965
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000079[regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000082[G1/S transition of mitotic cell cycle] GO:0000439[transcription factor TFIIH core complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007049[cell cycle] GO:0007512[adult heart development] GO:0008270[zinc ion binding] GO:0019907[cyclin-dependent protein kinase activating kinase holoenzyme complex] GO:0021591[ventricular system development] GO:0043066[negative regulation of apoptotic process] GO:0045737[positive regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0048661[positive regulation of smooth muscle cell proliferation] GO:0051592[response to calcium ion] GO:0061575[cyclin-dependent protein serine/threonine kinase activator activity] GO:0065003[protein-containing complex assembly] GO:0070516[CAK-ERCC2 complex] GO:0070985[transcription factor TFIIK complex] GO:1905775[negative regulation of DNA helicase activity] GO:2000045[regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000079[regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000439[transcription factor TFIIH core complex] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005675[transcription factor TFIIH holo complex] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007049[cell cycle] GO:0008270[zinc ion binding] GO:0019907[cyclin-dependent protein kinase activating kinase holoenzyme complex] GO:0045737[positive regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0046872[metal ion binding] GO:0047485[protein N-terminus binding] GO:0061575[cyclin-dependent protein serine/threonine kinase activator activity] GO:0065003[protein-containing complex assembly] GO:0070516[CAK-ERCC2 complex] GO:0070985[transcription factor TFIIK complex] GO:1905775[negative regulation of DNA helicase activity] GO:2000045[regulation of G1/S transition of mitotic cell cycle]
The Human Protein Atlas project is funded
