BLM Gene
protein-coding GIFtS: 71
GCID: GC15P091260
|
|
Bloom syndrome, RecQ helicase-like(Previous name: Bloom syndrome )
| |
Aliases
for BLM gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Bloom Syndrome, RecQ Helicase-Like1 2 | | Bloom Syndrome1 | | RECQ21 2 3 5 | | RECQL22 | | RECQL31 2 3 5 | | Bloom Syndrome Protein2 | | BS1 2 5 | | EC 3.6.4.123 | | RecQ Protein-Like 32 3 | | RecQ23 | | DNA Helicase, RecQ-Like Type 22 3 | | EC 3.6.18 |
Export aliases for BLM gene to outside databasesPrevious GC identifers: GC15P087894 GC15P085101 GC15P088847 GC15P088990 GC15P089061 GC15P067371 |
Summaries
for BLM gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BLM:
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has bothDNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alterhelicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriaterecombination. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: BLM_HUMAN, P54132Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicaseactivity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA duringdouble-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA
Gene Wiki entry for BLM (Bloom syndrome protein)
|
Genomic Views
for BLM gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010274.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BLM gene promoter:
USF1 p53 AP-1 ATF-2 GATA-1 PPAR-gamma1 NRF-2 USF-1 c-Jun PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for BLM
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLM |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q26.1 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q26.1BLM Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15P091260: view genomic region
(about GC identifiers)
Start:
|
91,260,558 bp from pter |
End:
|
91,358,859 bp from pter |
Size:
|
98,302 bases |
Orientation:
|
plus strand |
|
Proteins
for BLM gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BLM_HUMAN, P54132 (See
protein sequence)Recommended Name: Bloom syndrome protein Size: 1417 amino acids; 159000 Da
Subunit: Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM,BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughoutthe cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex.Interacts directly with RMI1 component of RMI complex. Interacts with SUPV3L1
Subcellular location: Nucleus
2 PDB 3D structures from  and Proteopedia  for BLM:2KV2 (3D)
2RRD (3D)
Secondary accessions: Q52M96Explore the universe of human proteins at neXtProt for BLM: NX_P54132
Post-translational modifications:
Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex,as well as the presence of RMI11
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P54132
4/8 DME Specific Peptides for BLM (P54132) (see all 8)
BLM Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000048.1
ENSEMBL proteins: ENSP00000347232 ENSP00000454158 ENSP00000453359 Reactome Protein details: P54132
Human Recombinant Protein Products:
Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table
BLM for ontologies About GeneDecksing
BLM Antibody Products:
Assay Products for BLM: |
Protein
Domains /
Families
for BLM gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BLM for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry P54132ProtoNet protein and cluster: P54132 3 Blocks protein families: IPB002121 HRDC domain IPB002464 ATP-dependent helicase IPB012532 BDHCT
UniProtKB/Swiss-Prot: BLM_HUMAN, P54132Similarity: Belongs to the helicase family. RecQ subfamilySimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domainSimilarity: Contains 1 HRDC domain |
Function
for BLM gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: BLM_HUMAN, P54132Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicaseactivity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA duringdouble-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNACatalytic activity: ATP + H(2)O = ADP + phosphate Genatlas biochemistry entry for BLM:DNA helicase,ATP dependent,expressed in thymus,testis,colocalizing with RPA heterotrimeric ss DNA binding protein inmeiotic prophase nuclei of spermatocytes,stimulated by single and DNA double strand breaks,upregulated at the G1-Sstage of the cell cycle,homologous to yeast Sgs1,E coli RecQ,involved in DNA repair and maintenance of genomeintegrity,RecQl family
Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLM (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLM
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BLM (NM_000057) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BLM | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLM |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLM |
Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16): About this table
BLM for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BLM:
Animal Models:
Mouse knock-outs for BLM: Blmtm1Grdn Blmtm1Ches Blmtm2Brd Blmtm3Ches Blmtm3Brd
11 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Blm):
BLM for phenotypes About GeneDecksing
|
Pathways & Interactions
for BLM gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/12 super-pathways (see all 12) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Formation of Meiotic Holliday Junction | | | 2 | DNA damage ATM/ATR regulation of G1/S checkpoint | | | 3 | Integrated Pancreatic Cancer Pathway | | | 4 | Meiotic Synapsis | | | 5 | DNA Damage | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for BLM
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for BLM
2 
Cell Signaling Technology (CST) Pathways for BLM
1  GeneGo (Thomson Reuters) Pathway for BLM
5  BioSystems Pathways for BLM
4 
Reactome Pathways for BLM
1 
Kegg Pathway (Kegg details for BLM):
BLM for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLM
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/658 Interacting proteins for BLM (P541321, 2, 3 ENSP000003472324) via UniProtKB, MINT, STRING, and/or I2D (see all 658)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| BRIP1 | Q9BX632, 3, ENSP000002590084 | MINT-8140896 MINT-8140932 MINT-8140908 MINT-8140923 MINT-8141084 MINT-8141063 MINT-8140879 MINT-8151233 MINT-8140957 MINT-8140977 MINT-8151248 MINT-8141011 MINT-8141100 MINT-8140943 MINT-8141074 MINT-8140834 I2D:
score=2 STRING: ENSP00000259008 | | RIF1 | Q5UIP02, 3, ENSP000002433264 | MINT-8049128 MINT-8048995 MINT-8048961 MINT-8049038 MINT-8048980 MINT-7945693 MINT-8049010 MINT-8049107 I2D:
score=1 STRING: ENSP00000243326 | | TOP3A | Q134722, 3, ENSP000003216364 | MINT-8049128 MINT-8048995 MINT-8415512 MINT-8048961 MINT-8049038 MINT-8048980 MINT-8049010 I2D:
score=5 STRING: ENSP00000321636 | | BRCA1 | P383982, 3, ENSP000003502834 | MINT-8141011 MINT-8140834 I2D:
score=1 STRING: ENSP00000350283 | | MLH1 | P406922, 3, ENSP000002317904 | MINT-7945693 I2D:
score=4 STRING: ENSP00000231790 |
About this table
Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table
BLM for ontologies About GeneDecksing
|
Drugs & Compounds
for BLM gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
BLM for compounds About GeneDecksing
 Browse Tocris compounds for BLM
1 HMDB Compound for BLM About this table
4 Novoseek chemical compound relationships for BLM gene About this table
Search CenterWatch for drugs/clinical trials and news about BLM
|
Transcripts
for BLM gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BLM gene: NM_000057.2 Unigene Cluster for BLM: Bloom syndrome, RecQ helicase-like Hs.725208 [show with all ESTs]Unigene Representative Sequence: NM_00005710 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000355112(uc002bpr.3 uc010uqh.2 uc010uqi.2 uc010bnx.3)
ENST00000560509 ENST00000559724 ENST00000559282 ENST00000558599 ENST00000559426
ENST00000560136 ENST00000560559 ENST00000558825 ENST00000560821
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLM (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLM
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BLM (NM_000057) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BLM | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLM |
Additional cDNA sequence: AK295194.1 AK303159.1 AK314262.1 AL110293.1 BC034480.1 BC062697.1 BC093622.1 BC101567.1 BC107423.1 BC115028.1 BC115029.1 BC115030.1 BC115031.1 BC115032.1 BC143280.1 BC143288.1 U39817.1 7 DOTS entries: DT.454403 DT.100745822 DT.95265873 DT.206072 DT.91694225 DT.210826 DT.40192917 24/75 AceView cDNA sequences (see all 75): CR615303 AI630521 BM542461 BI091601 AA903504 NM_000057 BI091772 BM451903 AI097184 U39817 BP363946 AW575595 BC034480 AU185765 AA584761 BM804157 CB243435 BQ230262 CR597614 BG397477 BX451969 BX283839 BP366542 BG756262
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BLM (see all 6) About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | - | | | | | | | | | | - | | | | |
| SP2: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 24 | ^ | 25a | · | 25b |
|---|
|
| SP1: | | | | | | | |
| SP2: | | | | | | | |
| SP3: | | | | | | | |
| SP4: | | | | | | | |
| SP5: | | | | | | |
ECgene alternative splicing isoforms for BLM
|
Expression
for BLM gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BLM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGAAAGATA
About this image
See BLM Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BLM
SOURCE GeneReport for Unigene cluster: Hs.725208
SABiosciences Expression via Pathway-Focused PCR Arrays including BLM:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BLM
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BLM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BLM | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BLM | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLM |
Orthologs
for BLM gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for BLM gene from 9/27 species (see all 27) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
BLM1 |
Bloom syndrome, RecQ helicase-like |
59.8(n)
56.32(a) |
|
415577 NM_001007087.1 NP_001007088.2 |
lizard
(Anolis carolinensis) |
Reptilia |
BLM6 |
-- |
77(a) |
1 ↔ 1 |
2(135007082-135048701) |
African clawed frog
(Xenopus laevis) |
Amphibia |
blm-A2 |
Bloom syndrome |
76.66(n) |
|
AF307841.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.131832 |
Transcribed sequence with weak similarity to protein more |
75.21(n) |
|
BG883546.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
mus3093 |
DNA repair synthesis ATP dependent DNA
helicase |
38(a) |
|
86F4 -- |
worm
(Caenorhabditis elegans) |
Secernentea |
him-63 |
helicase |
40(a) |
|
IV(12487752-12495313) -- |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
RECQI11 |
ATP-dependent DNA helicase Q-like 1 |
51.66(n)
43.64(a) |
|
819743 NM_111448.2 NP_187225.2 |
rice
(Oryza sativa) |
Liliopsida |
Os11g06727001 |
hypothetical protein |
50.2(n)
44.02(a) |
|
4351098 NM_001074968.1 NP_001068436.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
recQ6 |
ATP-dependent DNA helicase |
33(a) |
1 → many |
Chromosome(4003887-4005716) |
ENSEMBL Gene Tree for BLM (if available)
TreeFam Gene Tree for BLM (if available) |
Paralogs
for BLM gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BLM gene
- WRN2 RECQL2 RECQL52
1 SIMAP similar gene for BLM using alignment to 5 protein entries: BLM_HUMAN (see all proteins):RECQL
BLM for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for BLM
PGOHUM00000261518
|
Genomic Variants
for BLM gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BLM (91260558 - 91358859 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for BLM
2 Indels: 11810 40119
Human Gene Mutation Database (HGMD): BLM
Locus Specific Mutation Databases (LSDB): BLM
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLM |
|
Disorders
/ Diseases
for BLM gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BLM for disorders About GeneDecksing
OMIM gene information: 604610
OMIM disorders: 210900
UniProtKB/Swiss-Prot: BLM_HUMAN, P54132
Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal recessive disordercharacterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- andhyperpigmented skin, predisposition to malignancy, and chromosomal instability
20/38  diseases for BLM (see all 38): About MalaCardsbloom syndrome rothmund-thomson syndrome fanconi anemia, complementation group m nijmegen breakage syndrome
subacute sclerosing panencephalitis mutagen sensitivity fanconi's anemia non-hodgkin lymphoma
acute chest syndrome ataxia telangiectasia werner syndrome sickle cell anemia
splenic infarction adrenocortical hyperplasia hodgkin's lymphoma breast cancer susceptibility
priapism hemoglobinopathy anemia osteomyelitis
3 diseases from the University of Copenhagen DISEASES database for BLM:Bloom syndrome Werner syndrome Genetic disorder 10/15 Novoseek disease relationships for BLM gene (see all 15) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| bloom syndrome |
98.7 |
105 |
15137905 (5), 18401830 (3), 17407155 (2), 9285778 (2) (see all 79) |
| werner syndrome |
92 |
19 |
15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 19) |
| rothmund-thomson syndrome |
91.1 |
12 |
15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 12) |
| ataxia telangiectasia |
69.9 |
7 |
16199871 (1), 17768402 (1), 11309417 (1), 17984114 (1) (see all 7) |
| skin abnormalities |
68.4 |
2 |
19238688 (1) |
| genetic disorder |
66.8 |
6 |
12595564 (1), 18401830 (1), 18430459 (1), 17634426 (1) (see all 6) |
| cancer |
57.8 |
45 |
19432957 (5), 16181657 (1), 17599064 (1), 18682526 (1) (see all 33) |
| fanconis anemia |
55.3 |
4 |
19738377 (2), 11876000 (1), 11733219 (1) |
| nijmegen breakage syndrome |
48.8 |
1 |
11733219 (1) |
| chromosomal aberrations |
44.2 |
3 |
10652259 (1), 10620009 (1), 19465921 (1) |
Genatlas disease: BLM Bloom syndrome,characterized by dwarfism,sun sensitivity,immunodeficiency and a high risk for various cancers,,withincreased chromosomal instability (increased large DNA deletions) and sister chromatide exchanges
GeneTests: BLM
Bloom's Syndrome
Genetic Association Database (GAD): BLM
Human Genome Epidemiology (HuGE) Navigator: BLM (47 documents)
Export disorders for BLM gene to outside databases
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Publications
for BLM gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for BLM gene, integrated from 9 sources (see all 301):
(articles sorted by number of sources associating them with BLM) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PubMed id 9285778)1, 2, 4, 9 Foucault F.... Amor-Gueret M. (1997)
- The Bloom's syndrome gene product is a 3'-5' DNA helicase. (PubMed id 9388193)1, 2, 3 Karow J.K.... Hickson I.D. (1997)
- A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PubMed id 16595695)1, 2, 9 Raynard S.... Sung P. (2006)
- The Bloom's syndrome gene product is homologous to RecQ helicases. (PubMed id 7585968)1, 2, 9 Ellis N.A.... German J. (1995)
- Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. (PubMed id 17961633)1, 2, 9 Pereira M....Stepien P.P. (2007)
- Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PubMed id 11876000)1, 4, 9 Peleg L....Barkai G. (2002)
- BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. (PubMed id 10783165)1, 2, 9 Wang Y.... Qin J. (2000)
- BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. (PubMed id 21325134)1, 2 Nimonkar A.V....Kowalczykowski S.C. (2011)
- A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
- Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. (PubMed id 15726604)1, 4 Koren-Michowitz M....Amariglio N. (2005)
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External Searches for BLM gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing BLM gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing BLM gene
(According to HUGE)
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Specialized Databases showing BLM gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for BLM | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for BLM | Genetics and Cytogenetics in Oncology and Haematology | | BLMbase | http://bioinf.uta.fi/BLMbase/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BLM | | NIEHS-SNPs | http://egp.gs.washington.edu/data/blm/ |
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| Patent Information for BLM gene:
Search GeneIP for patents involving BLM
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for BLM gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for BLM | | OriGene shRNA RFP for BLM | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BLM | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BLM | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BLM | | OriGene 3'-UTR Clone for BLM | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BLM | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BLM | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for BLM | | OriGene Custom Protein Services for BLM | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BLM | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BLM | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BLM | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BLM | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BLM | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BLM |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLM |
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