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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 Enzymes Human disease related genes Plasma proteins Potential drug targets
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
15
Cytoband
q26.1
Chromosome location (bp)
90717346 - 90816166
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction 1,2,3,4. Participates in DNA replication and repair 5,6,7,8. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA 9. Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution 10. Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA 11,12,13. Unwinds G-quadruplex DNA; unwinding occurs in the 3'- 5' direction and requires a 3' single-stranded end of at least 7 nucleotides 14,15. Helicase activity is higher on G-quadruplex substrates than on duplex DNA substrates 16. Telomeres, immunoglobulin heavy chain switch regions and rDNA are notably G-rich; formation of G-quadruplex DNA would block DNA replication and transcription 17,18. Negatively regulates sister chromatid exchange (SCE) 19. Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Helicase, Hydrolase, Isomerase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, DNA replication
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]...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.
P54132 [Direct mapping] RecQ-like DNA helicase BLM
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Immune system diseases Primary immunodeficiency 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:0000166[nucleotide binding] GO:0000228[nuclear chromosome] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000405[bubble DNA binding] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000729[DNA double-strand break processing] GO:0000781[chromosome, telomeric region] GO:0000800[lateral element] GO:0002039[p53 binding] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003697[single-stranded DNA binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006260[DNA replication] GO:0006268[DNA unwinding involved in DNA replication] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008094[ATP-dependent activity, acting on DNA] GO:0008270[zinc ion binding] GO:0009378[four-way junction helicase activity] GO:0010165[response to X-ray] GO:0016363[nuclear matrix] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0016818[hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887[ATP hydrolysis activity] GO:0031297[replication fork processing] GO:0031422[RecQ family helicase-topoisomerase III complex] GO:0032201[telomere maintenance via semi-conservative replication] GO:0032508[DNA duplex unwinding] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043138[3'-5' DNA helicase activity] GO:0043232[intracellular non-membrane-bounded organelle] GO:0044237[cellular metabolic process] GO:0044806[G-quadruplex DNA unwinding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045910[negative regulation of DNA recombination] GO:0046872[metal ion binding] GO:0048478[replication fork protection] GO:0051259[protein complex oligomerization] GO:0051260[protein homooligomerization] GO:0051782[negative regulation of cell division] GO:0051880[G-quadruplex DNA binding] GO:0061749[forked DNA-dependent helicase activity] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0061849[telomeric G-quadruplex DNA binding] GO:0071139[resolution of recombination intermediates] GO:0071479[cellular response to ionizing radiation] GO:0072711[cellular response to hydroxyurea] GO:0072757[cellular response to camptothecin] GO:0090329[regulation of DNA-templated DNA replication] GO:0090656[t-circle formation] GO:0140677[molecular function activator activity] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1990814[DNA/DNA annealing activity]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
P54132 [Direct mapping] RecQ-like DNA helicase BLM
Show all
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Congenital malformations Other congenital malformations Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000079[regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000166[nucleotide binding] GO:0000228[nuclear chromosome] GO:0000400[four-way junction DNA binding] GO:0000403[Y-form DNA binding] GO:0000405[bubble DNA binding] GO:0000723[telomere maintenance] GO:0000724[double-strand break repair via homologous recombination] GO:0000729[DNA double-strand break processing] GO:0000781[chromosome, telomeric region] GO:0000800[lateral element] GO:0002039[p53 binding] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003697[single-stranded DNA binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005657[replication fork] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006260[DNA replication] GO:0006268[DNA unwinding involved in DNA replication] GO:0006281[DNA repair] GO:0006310[DNA recombination] GO:0006974[cellular response to DNA damage stimulus] GO:0007095[mitotic G2 DNA damage checkpoint signaling] GO:0008094[ATP-dependent activity, acting on DNA] GO:0008270[zinc ion binding] GO:0009378[four-way junction helicase activity] GO:0010165[response to X-ray] GO:0016363[nuclear matrix] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0016818[hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887[ATP hydrolysis activity] GO:0031297[replication fork processing] GO:0031422[RecQ family helicase-topoisomerase III complex] GO:0032201[telomere maintenance via semi-conservative replication] GO:0032508[DNA duplex unwinding] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043138[3'-5' DNA helicase activity] GO:0043232[intracellular non-membrane-bounded organelle] GO:0044237[cellular metabolic process] GO:0044806[G-quadruplex DNA unwinding] GO:0045893[positive regulation of DNA-templated transcription] GO:0045910[negative regulation of DNA recombination] GO:0046872[metal ion binding] GO:0048478[replication fork protection] GO:0051259[protein complex oligomerization] GO:0051260[protein homooligomerization] GO:0051782[negative regulation of cell division] GO:0051880[G-quadruplex DNA binding] GO:0061749[forked DNA-dependent helicase activity] GO:0061820[telomeric D-loop disassembly] GO:0061821[telomeric D-loop binding] GO:0061849[telomeric G-quadruplex DNA binding] GO:0071139[resolution of recombination intermediates] GO:0071479[cellular response to ionizing radiation] GO:0072711[cellular response to hydroxyurea] GO:0072757[cellular response to camptothecin] GO:0090329[regulation of DNA-templated DNA replication] GO:0090656[t-circle formation] GO:0140677[molecular function activator activity] GO:1905773[8-hydroxy-2'-deoxyguanosine DNA binding] GO:1990814[DNA/DNA annealing activity]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Congenital malformations Other congenital malformations Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
