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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu20391 NM_001287247 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu20445 NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu20445 NM_001287246 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu20947 NM_001287248 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu48483 XM_006720632 PREDICTED: Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu20391C NM_001287247 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 3, mRNA. Customized vector On-demand 25 $1699.00
OHu20445C NM_000057 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 1, mRNA. Customized vector On-demand 25 $1699.00
OHu20445C NM_001287246 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 2, mRNA. Customized vector On-demand 25 $1699.00
OHu20947C NM_001287248 Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant 4, mRNA. Customized vector On-demand 25 $1699.00
OHu48483C XM_006720632 PREDICTED: Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), transcript variant X1, mRNA. Customized vector On-demand 12-14 $329.00

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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?

Interactant

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