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BLM Bloom syndrome, RecQ helicase-like [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001287246 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001287247 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001287248 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006720632 PREDICTED: Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol BLM
Entrez Gene ID 641
Full Name Bloom syndrome, RecQ helicase-like
Synonyms BS, RECQ2, RECQL2, RECQL3
General protein information
Preferred Names
Bloom syndrome protein
Names
Bloom syndrome protein
recQ protein-like 3
DNA helicase, RecQ-like type 2
NP_000048.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q26.1

Summary The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008].
Disorder

MIM: 604610

Bloom syndrome, 210900 (3)

mRNA Protein Product Sequence Price Select
NM_000057, 564730685 NP_000048, 4557365 Bloom syndrome protein isoform 1 ORF Sequence $1500.00
NM_001287246, 564730686 NP_001274175, 564730687 Bloom syndrome protein isoform 1 ORF Sequence $1500.00
NM_001287247, 564730688 NP_001274176, 564730689 Bloom syndrome protein isoform 2 ORF Sequence $1500.00
NM_001287248, 564730690 NP_001274177, 564730691 Bloom syndrome protein isoform 3 ORF Sequence $1500.00
XM_006720632, 578827269 XP_006720695, 578827270 Bloom syndrome protein isoform X1 ORF Sequence $700.00
KEGG
hsa03440Homologous recombination
hsa03460Fanconi anemia pathway
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
hsa_M00414Bloom's syndrome complex
WikiPathways
WP1984Integrated Breast Cancer Pathway
WP2377Integrated Pancreatic Cancer Pathway
WP1971Integrated Cancer pathway
WP2263Prostate Cancer
Pathway Interaction Database
telomerasepathwayRegulation of Telomerase
Reactome
REACT_27271Meiotic recombination
REACT_111183Meiosis
REACT_115566Cell Cycle
Homo sapiens (human)BLMNP_000048.1
Pan troglodytes (chimpanzee)BLMXP_510594.2
Macaca mulatta (Rhesus monkey)BLMXP_001097543.1
Canis lupus familiaris (dog)BLMXP_003434427.1
Bos taurus (cattle)BLMXP_002696629.1
Mus musculus (house mouse)BlmNP_031576.4
Rattus norvegicus (Norway rat)BlmXP_006229520.1
Gallus gallus (chicken)BLMNP_001007088.2
Danio rerio (zebrafish)blmXP_701357.4
Xenopus (Silurana) tropicalis (western clawed frog)blmNP_001243837.1
Process
IDNameEvidence
GO:0000079regulation of cyclin-dependent protein serine/threonine kinase activityIMP
GO:0000085mitotic G2 phaseNAS
GO:0000723telomere maintenanceIEA
GO:0000724double-strand break repair via homologous recombinationNAS
GO:0000729DNA double-strand break processingIDA
GO:0000733DNA strand renaturationIDA
GO:0006200ATP catabolic processIDA
GO:0006200ATP catabolic processIEA
GO:0006281DNA repairNAS
GO:0006310DNA recombinationNAS
GO:0006974cellular response to DNA damage stimulusIDA
GO:0006974cellular response to DNA damage stimulusIMP
GO:0010165response to X-rayIDA
GO:0031297replication fork processingIDA
GO:0031572G2 DNA damage checkpointNAS
GO:0032508DNA duplex unwindingIDA
GO:0032508DNA duplex unwindingIEA
GO:0032508DNA duplex unwindingIMP
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045910negative regulation of DNA recombinationIMP
GO:0045950negative regulation of mitotic recombinationIEA
GO:0046632alpha-beta T cell differentiationIEA
GO:0046641positive regulation of alpha-beta T cell proliferationIEA
GO:0048478replication fork protectionNAS
GO:0051098regulation of bindingIEA
GO:0051259protein oligomerizationIDA
GO:0051782negative regulation of cell divisionIMP
GO:0070244negative regulation of thymocyte apoptotic processIEA
GO:0071479cellular response to ionizing radiationIDA
GO:0072711cellular response to hydroxyureaIDA
GO:0072757cellular response to camptothecinIDA
Component
IDNameEvidence
GO:0000228nuclear chromosomeIDA
GO:0000781chromosome, telomeric regionIDA
GO:0000800lateral elementIDA
GO:0001673male germ cell nucleusIEA
GO:0005634nucleusIDA
GO:0005657replication forkIEA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIEA
GO:0016363nuclear matrixIDA
GO:0016605PML bodyIDA
GO:0016605PML bodyIDA
GO:0045120pronucleusIEA
Function
IDNameEvidence
GO:0000405bubble DNA bindingIDA
GO:0002039p53 bindingIPI
GO:0003697single-stranded DNA bindingIDA
GO:0004003ATP-dependent DNA helicase activityIDA
GO:0004003ATP-dependent DNA helicase activityIMP
GO:0004386helicase activityIDA
GO:0005515protein bindingIPI
GO:0005524ATP bindingIDA
GO:0008026ATP-dependent helicase activityIDA
GO:0009378four-way junction helicase activityIDA
GO:0016887ATPase activityIDA
GO:0036310annealing helicase activityIDA
GO:0043140ATP-dependent 3'-5' DNA helicase activityIEA
GO:0051880G-quadruplex DNA bindingIDA
GeneCards BLM
PDB 4CDG, 3WE3, 4O3M, 2RRD, 3WE2, 2KV2, 4CGZ
UniProt P54132, H0YNU5, B7ZKN7
Vega OTTHUMG00000149834
MIM 604610
Ensembl ENSG00000197299
HGNC 1058
HPRD 05211

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the BLM gene?

The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division and for repairing damaged DNA. Because RecQ helicases maintain the structure and integrity of DNA, they are known as the "caretakers of the genome."

When a cell prepares to divide to form two cells, the DNA that makes up the chromosomes is copied so that each new cell will get a complete set of chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids, which are attached to one another during the early stages of cell division. Sister chromatids exchange small sections of DNA (sister chromatid exchange) during this time.

The BLM protein interacts with several other proteins involved in the maintenance of genome integrity. With the help of its partner proteins, BLM suppresses sister chromatid exchanges and helps to maintain the stability of the DNA during the copying process. Researchers believe BLM restarts the DNA copying process when it stalls, an event that probably happens frequently in the cell. In the absence of BLM activity, DNA copying restarts through a mechanism called homologous recombination that results in sister chromatid exchange.

Interactant

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