Page last updated: 2024-08-07 23:36:24

Bloom syndrome protein

A RecQ-like DNA helicase BLM that is encoded in the genome of human. [PRO:DNx, UniProtKB:P54132]

Synonyms

EC 3.6.4.12;
DNA helicase, RecQ-like type 2;
RecQ2;
RecQ protein-like 3

Research

Bioassay Publications (3)

TimeframeStudies on this Protein(%)All Drugs %
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (100.00)24.3611
2020's0 (0.00)2.80

Compounds (2)

Drugs with Inhibition Measurements

DrugTaxonomyMeasurementAverage (mM)Bioassay(s)Publication(s)
1-(3,4-dichlorophenyl)-3-(5-pyridin-4-yl-1,3,4-thiadiazol-2-yl)ureaHomo sapiens (human)IC501.400011
1-[4-fluoro-3-(trifluoromethyl)phenyl]-3-(5-pyridin-4-yl-1,3,4-thiadiazol-2-yl)ureaHomo sapiens (human)IC5018.354055

Drugs with Other Measurements

DrugTaxonomyMeasurementAverage (mM)Bioassay(s)Publication(s)
1-[4-fluoro-3-(trifluoromethyl)phenyl]-3-(5-pyridin-4-yl-1,3,4-thiadiazol-2-yl)ureaHomo sapiens (human)EC50.000011

Enables

This protein enables 25 target(s):

TargetCategoryDefinition
four-way junction DNA bindingmolecular functionBinding to a DNA segment containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices. [GOC:krc, ISBN:0815332181, PMID:15563464]
Y-form DNA bindingmolecular functionBinding to a DNA segment shaped like a Y. This shape occurs when DNA contains a region of paired double-stranded DNA on one end and a region of unpaired DNA strands on the opposite end. [GOC:elh, PMID:16781730]
bubble DNA bindingmolecular functionBinding to DNA segment that contains a bubble. A bubble occurs when DNA contains a region of unpaired, single-stranded DNA flanked on both sides by regions of paired, double-stranded DNA. [GOC:elh, GOC:vw, PMID:16781730]
p53 bindingmolecular functionBinding to one of the p53 family of proteins. [GOC:hjd]
DNA bindingmolecular functionAny molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). [GOC:dph, GOC:jl, GOC:tb, GOC:vw]
DNA helicase activitymolecular functionUnwinding of a DNA helix, driven by ATP hydrolysis. [GOC:jl]
single-stranded DNA bindingmolecular functionBinding to single-stranded DNA. [GOC:elh, GOC:vw, PMID:22976174]
helicase activitymolecular functionCatalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. [GOC:jl]
protein bindingmolecular functionBinding to a protein. [GOC:go_curators]
ATP bindingmolecular functionBinding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. [ISBN:0198506732]
ATP-dependent activity, acting on DNAmolecular functionCatalytic activity that acts to modify DNA, driven by ATP hydrolysis. [GOC:pdt]
zinc ion bindingmolecular functionBinding to a zinc ion (Zn). [GOC:ai]
four-way junction helicase activitymolecular functionUnwinding a DNA helix of DNA containing four-way junctions, including Holliday junctions, driven by ATP hydrolysis. [GOC:al, PMID:22723423, PMID:9442895]
isomerase activitymolecular functionCatalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. [ISBN:0198506732]
ATP hydrolysis activitymolecular functionCatalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. [RHEA:13065]
identical protein bindingmolecular functionBinding to an identical protein or proteins. [GOC:jl]
protein homodimerization activitymolecular functionBinding to an identical protein to form a homodimer. [GOC:jl]
3'-5' DNA helicase activitymolecular functionUnwinding a DNA helix in the direction 5' to 3', driven by ATP hydrolysis. [EC:5.6.2.4, GOC:jl]
G-quadruplex DNA bindingmolecular functionBinding to G-quadruplex DNA structures, in which groups of four guanines adopt a flat, cyclic Hoogsteen hydrogen-bonding arrangement known as a guanine tetrad. The stacking of guanine tetrads results in G-quadruplex DNA structures. G-quadruplex DNA can form under physiological conditions from some G-rich sequences, such as those found in telomeres, immunoglobulin switch regions, gene promoters, fragile X repeats, and the dimerization domain in the human immunodeficiency virus (HIV) genome. [PMID:16142245, PMID:9512530]
forked DNA-dependent helicase activitymolecular functionUnwinding a DNA helix containing forked DNA, driven by ATP hydrolysis. [GOC:dph, PMID:26277776]
telomeric D-loop bindingmolecular functionBinding to a telomeric D-loop. A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus. [GOC:BHF, GOC:BHF_telomere, GOC:nc, PMID:19734539]
telomeric G-quadruplex DNA bindingmolecular functionBinding to telomeric G-quadruplex DNA structures, in which groups of four guanines adopt a flat, cyclic Hoogsteen hydrogen-bonding arrangement known as a guanine tetrad. The stacking of guanine tetrads results in G-quadruplex DNA structures in telomeres. [GOC:BHF, GOC:BHF_telomere, GOC:nc, PMID:16142245, PMID:9512530]
molecular function activator activitymolecular functionA molecular function regulator that activates or increases the activity of its target via non-covalent binding that does not result in covalent modification to the target. [GOC:curators]
8-hydroxy-2'-deoxyguanosine DNA bindingmolecular functionBinding to 8-hydroxy-2'-deoxyguanosine an oxidized purine residue found in damaged DNA. [GO_REF:0000067, GOC:BHF, GOC:BHF_telomere, GOC:nc, GOC:TermGenie, PMID:19734539]
DNA/DNA annealing activitymolecular functionAn activity that faciliates the formation of a complementary double-stranded DNA molecule. [PMID:22888405, PMID:25520186]

Located In

This protein is located in 9 target(s):

TargetCategoryDefinition
nuclear chromosomecellular componentA chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. [GOC:dph, GOC:mah]
lateral elementcellular componentA proteinaceous core found between sister chromatids during meiotic prophase. [GOC:elh]
nucleuscellular componentA membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. [GOC:go_curators]
nucleoplasmcellular componentThat part of the nuclear content other than the chromosomes or the nucleolus. [GOC:ma, ISBN:0124325653]
replication forkcellular componentThe Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes. [GOC:mah, ISBN:0198547684]
nucleoluscellular componentA small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. [ISBN:0198506732]
cytosolcellular componentThe part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. [GOC:hjd, GOC:jl]
nuclear matrixcellular componentThe dense fibrillar network lying on the inner side of the nuclear membrane. [ISBN:0582227089]
PML bodycellular componentA class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. [GOC:ma, PMID:10944585]

Active In

This protein is active in 3 target(s):

TargetCategoryDefinition
chromosomecellular componentA structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. [ISBN:0198547684]
cytoplasmcellular componentThe contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. [ISBN:0198547684]
nucleuscellular componentA membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. [GOC:go_curators]

Part Of

This protein is part of 2 target(s):

TargetCategoryDefinition
RecQ family helicase-topoisomerase III complexcellular componentA complex containing a RecQ family helicase and a topoisomerase III homologue (a member of the topoisomerase type IA subfamily); may also include one or more additional proteins; conserved from E. coli to human. [GOC:bhm, GOC:krc, PMID:15889139]
protein-containing complexcellular componentA stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. [GOC:dos, GOC:mah]

Involved In

This protein is involved in 27 target(s):

TargetCategoryDefinition
regulation of cyclin-dependent protein serine/threonine kinase activitybiological processAny process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. [GOC:go_curators, GOC:pr]
double-strand break repair via homologous recombinationbiological processThe error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule. [GOC:elh, PMID:10357855]
DNA double-strand break processingbiological processThe 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang. [PMID:10357855]
DNA replicationbiological processThe cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by the origin recognition complex, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. [GOC:mah]
DNA repairbiological processThe process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. [PMID:11563486]
DNA recombinationbiological processAny process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. [ISBN:0198506732]
DNA damage responsebiological processAny process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. [GOC:go_curators]
mitotic G2 DNA damage checkpoint signalingbiological processA mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage. [GOC:mtg_cell_cycle, PMID:16299494]
response to X-raybiological processAny process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of X-ray radiation. An X-ray is a form of electromagnetic radiation with a wavelength in the range of 10 nanometers to 100 picometers (corresponding to frequencies in the range 30 PHz to 3 EHz). [GOC:sm, Wikipedia:X-ray]
replication fork processingbiological processThe process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. [GOC:vw, PMID:11459955, PMID:15367656, PMID:17660542]
telomere maintenance via semi-conservative replicationbiological processThe process in which telomeric DNA is synthesized semi-conservatively by the conventional replication machinery and telomeric accessory factors as part of cell cycle DNA replication. [GOC:BHF, GOC:BHF_telomere, GOC:rl, GOC:vw, PMID:16598261]
DNA duplex unwindingbiological processThe process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating a region of unpaired single strands. [GOC:isa_complete, GOC:mah]
G-quadruplex DNA unwindingbiological processThe process by which G-quadruplex (also known as G4) DNA, which is a four-stranded DNA structure held together by guanine base pairing, is unwound or 'melted'. [GOC:jl, GOC:se, PMID:23657261]
positive regulation of DNA-templated transcriptionbiological processAny process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. [GOC:go_curators, GOC:txnOH]
negative regulation of DNA recombinationbiological processAny process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. [GOC:go_curators]
protein complex oligomerizationbiological processThe process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. [GOC:ai, PMID:18293929]
protein homooligomerizationbiological processThe process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. [GOC:ai]
negative regulation of cell divisionbiological processAny process that stops, prevents, or reduces the frequency, rate or extent of cell division. [GOC:ai]
telomeric D-loop disassemblybiological processA telomere loop disassembly process that results in the disassembly of telomeric D-loops. A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus. [GOC:BHF, GOC:BHF_telomere, GOC:nc, PMID:10338204, PMID:24012755]
resolution of DNA recombination intermediatesbiological processThe cleavage and rejoining of intermediates, such as Holliday junctions, formed during DNA recombination to produce two intact molecules in which genetic material has been exchanged. [GOC:elh, GOC:mah, GOC:vw]
cellular response to ionizing radiationbiological processAny process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. [GOC:mah]
cellular response to hydroxyureabiological processAny process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroxyurea stimulus. [GOC:mah]
cellular response to camptothecinbiological processAny process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a camptothecin stimulus. [GOC:mah]
regulation of DNA-templated DNA replicationbiological processAny process that modulates the rate, frequency, or extent of DNA-templated DNA replication, the process in which new strands of DNA are synthesized. [GOC:dph, GOC:tb]
t-circle formationbiological processA telomere maintenance process that results in the formation of a telomeric circle, or t-circle. A t-circle is an extrachromosomal duplex or single-stranded circular DNA molecule composed of t-arrays. T-circles are involved in the control of telomere length via alternative-lengthening of telomeres (ALT) pathway and telomere rapid deletion (TRD). [GOC:BHF, GOC:BHF_telomere, GOC:nc, PMID:19214183, PMID:19581589, PMID:19809492, PMID:19858100]
DNA unwinding involved in DNA replicationbiological processThe process in which interchain hydrogen bonds between two strands of DNA are broken or 'melted', generating unpaired template strands for DNA replication. [ISBN:071673706X, ISBN:0815316194]
telomere maintenancebiological processAny process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. [GOC:BHF, GOC:BHF_telomere, GOC:elh, GOC:rl, PMID:11092831]