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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 Enzymes FDA approved drug targets 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
17
Cytoband
q21.2
Chromosome location (bp)
40388525 - 40417896
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand 1,2,3,4. May play a role in regulating the period length of BMAL1 transcriptional oscillation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Isomerase, Topoisomerase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]...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 Isomerase Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers FDA approved drug targets Small molecule drugs Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000228[nuclear chromosome] GO:0000287[magnesium ion binding] GO:0000712[resolution of meiotic recombination intermediates] GO:0000775[chromosome, centromeric region] GO:0000793[condensed chromosome] GO:0000819[sister chromatid segregation] GO:0001673[male germ cell nucleus] GO:0002244[hematopoietic progenitor cell differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003723[RNA binding] GO:0003916[DNA topoisomerase activity] GO:0003918[DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005814[centriole] GO:0006259[DNA metabolic process] GO:0006265[DNA topological change] GO:0006266[DNA ligation] GO:0006974[cellular response to DNA damage stimulus] GO:0007059[chromosome segregation] GO:0007143[female meiotic nuclear division] GO:0008022[protein C-terminus binding] GO:0008094[ATP-dependent activity, acting on DNA] GO:0008301[DNA binding, bending] GO:0009330[DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) complex] GO:0016853[isomerase activity] GO:0019899[enzyme binding] GO:0030261[chromosome condensation] GO:0030263[apoptotic chromosome condensation] GO:0032991[protein-containing complex] GO:0040016[embryonic cleavage] GO:0042752[regulation of circadian rhythm] GO:0042803[protein homodimerization activity] GO:0042826[histone deacetylase binding] GO:0043065[positive regulation of apoptotic process] GO:0043130[ubiquitin binding] GO:0045870[positive regulation of single stranded viral RNA replication via double stranded DNA intermediate] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0046982[protein heterodimerization activity] GO:0048511[rhythmic process] GO:1905463[negative regulation of DNA duplex unwinding] GO:1990904[ribonucleoprotein complex]
The Human Protein Atlas project is funded
