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BLM Gene

protein-coding GIFtS: 71

GC15P089061

Bloom syndrome, RecQ helicase-like
(Previous name: Bloom syndrome )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
BLAP18 ^⁵
BS ^¹, ²
C16orf75 ^⁵
EC 3.6.1.- ^³
MGC126616 ^²
MGC131618 ^²
MGC131620 ^²
RECQ2 ^¹, ², ³
RECQL2 ^²
RECQL3 ^¹, ², ³
RMI2 ^⁵

Descriptions
Bloom syndrome ^¹
Bloom syndrome protein ^²
Bloom syndrome, RecQ helicase-like ^²
DNA helicase, RecQ-like type 2 ^³
RecQ protein-like 3 ^³

External Ids
HGNC: 1058¹
Entrez Gene: 641²
UniProtKB: P54132³
Ensembl: ENSG00000197299⁷

Search outside databases for aliases for BLM gene

Previous GC identifers: GC15P087894 GC15P085101 GC15P088847 GC15P088990

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for BLM:

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]

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132

Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent

DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction

Gene Wiki entry for BLM (Bloom_syndrome_protein)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BLM gene

Entrez Gene cytogenetic band: 15q26.1 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q26.1

BLM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P089061: (about GC identifiers)

Start:	89,061,583 bp from pter
End:	89,159,690 bp from pter
Size:	98,108 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010274.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 throughout the cell cycle and within subnuclear domains. Interacts

with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of

RMI complex

Subcellular location: Nucleus

Secondary accessions: Q52M96

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000048.1

ENSEMBL proteins:

ENSP00000347232

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Blooms Syndrome Protein Blm)
	Human Recombinant Proteins from Abnova (BLM)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000781	colocalizes with chromosome, telomeric region	IDA	10779560
GO:0000800	lateral element	IDA	10728666
GO:0001673	male germ cell nucleus	IEA	--
GO:0005622	intracellular	IEA	--
GO:0005657	replication fork	IEA	--

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Antibodies for BLM:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for BLM
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for BLM
	Antibodies from Abcam (Blooms Syndrome Protein Blm), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BLM)
	Novus Biologicals Antibodies for BLM

Assays for BLM:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P54132

ProtoNet protein and cluster: P54132

3 Blocks protein families:

IPB002121 HRDC domain

IPB002464 ATP-dependent helicase

IPB012532 BDHCT

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132

Similarity: Belongs to the helicase family. RecQ subfamily

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Similarity: Contains 1 HRDC domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BLM)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BLM)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000057

Applied Biosystems Silencer® siRNAs for BLM

Sigma-Aldrich siRNA and siRNA Panels for BLM

Sigma-Aldrich shRNA Panels and shRNA for BLM

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000057
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000057
untagged cDNA clone in CMV expression vector: NM_000057

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000057

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132

Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent

DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction

Enzyme Number (IUBMB): EC 3.6.1.-

Genatlas biochemistry entry for BLM:

DNA helicase,ATP dependent,expressed in thymus,testis,colocalizing with RPA heterotrimeric ss DNA

binding protein in meiotic prophase nuclei of spermatocytes,stimulated by single and DNA double

strand breaks,upregulated at the G1-S stage of the cell cycle,homologous to yeast Sgs1,E coli

RecQ,involved in DNA repair and maintenance of genome integrity,RecQl family

11 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Blm):

	cellular	embryogenesis	growth/size	hematopoietic system
immune system	lethality-prenatal/perinatal	no phenotypic analysis	normal	skin/coat/nails
tumorigenesis

5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000405	bubble DNA binding	IDA	11433031
GO:0000739	DNA strand annealing activity	IDA	17878217
GO:0002039	p53 binding	IPI	11781842
GO:0003677	DNA binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for BLM (Your Favorite Gene powered by Ingenuity)

Role of BRCA1 in DNA Damage Response
Purine Metabolism

GeneDecks BLM for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for BLM

5/46 Interacting proteins for BLM (ENSP00000347232³ P54132^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 46 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FEN1	P39748¹	STRING (score=.915) EBI-621372, EBI-707816
TERF1	P54274¹	STRING (score=.888) EBI-621372, EBI-710997
TERF2	Q15554¹	STRING (score=.987) EBI-621372, EBI-706637
WRN	Q14191¹	STRING (score=.799) EBI-621372, EBI-368417
RPA1	P27694¹	EBI-621372, EBI-621389

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5/20 Gene Ontology (GO) biological process terms (links to tree view) (see all 20 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000079	regulation of cyclin-dependent protein kinase activity	IMP	15604258
GO:0000085	G2 phase of mitotic cell cycle	NAS	11309417
GO:0000723	telomere maintenance	IEA	--
GO:0000724	double-strand break repair via homologous recombination	NAS	11309417
GO:0006260	DNA replication	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BLM
1 Novoseek chemical compound relationship for BLM gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	3.96	9	14576316 (2), 17766252 (2), 15579905 (2), 17878217 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BLM)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (BLM)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000057

Sigma-Aldrich siRNA and siRNA Panels for BLM

Sigma-Aldrich shRNA Panels and shRNA for BLM

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000057

REFSEQ mRNAs for BLM gene:

NM_000057.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000057

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000057
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000057
                                 untagged cDNA clone in CMV expression vector: NM_000057

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

CR597614.1 CR615303.1 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 ):

NM_000057 BC034480 AA903504 U39817 AA584761 BM542461 AW575595 BI091601

BM451903 BP363946 AI630521 BI091772 CB243435 BQ230262 CR615303 BM804157

AU185765 AI097184 CR597614 BC062697 AI114820 BX451969 BX643048 BX283839

highest scoring ESTs for BLM:

U39817 AA862803 AI590599 AW404657 AW575595 BC034480 BM041661 CB243435 AA480209 AA747832

Unigene Cluster for BLM:

Bloom syndrome, RecQ helicase-like

Hs.716515 [show with all ESTs]

Unigene Representative Sequence: NM_000057

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BLM (see all 6 )

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:

About this scheme

ECgene alternative splicing isoforms for BLM

1 Ensembl transcript including schematic representation:

ENST00000355112

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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BLM expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BLM

¹ / ² / ³

3 probe-sets matching BLM gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1544_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U39817	1.00	1.00	1.00	1
205733_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000057	0.60	1.00	0.82	1
205733_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BLM for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TAGAAAGATA

SOURCE GeneReport for Unigene cluster: Hs.716515
Expression variation in blood from EXPOLDB for BLM

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for BLM gene from 5/15 species (see all 15 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	BLM¹	--	Bloom syndrome	99.22(n) 98.52(a)	453650 XM_510594.2 XP_510594.2
cow (Bos taurus)	BLM¹	--	Bloom syndrome	86.17(n) 82.9(a)	534148 XM_613809.3 XP_613809.3
rat (Rattus norvegicus)	Blm¹	--	Bloom syndrome homolog (human)	81.36(n) 76.45(a)	308755 XM_218837.4 XP_218837.4
mouse (Mus musculus)	Blm^{1, 5}	7 (40.00 cM)⁵	Bloom syndrome homolog (human)^{1, 5}	82.54(n)¹ 77.62(a)¹	12144¹ NM_001042527.1¹ NP_001035992.1¹ AB008674⁵ AK137022⁵ (see all 13)
chicken (Gallus gallus)	BLM¹	--	Bloom syndrome	62.91(n) 59.89(a)	415577 NM_001007087.1 NP_001007088.1

About this table Species with no ortholog for BLM

ENSEMBL Gene Tree for BLM

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for BLM gene

WRN² RECQL²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/855 NCBI SNPs in BLM are shown (see all 855 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 338)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2229035^1,2	C,F,H	89138509(+)	`TTTGGC/ACTACT`	1	D/A	mis¹		9	MN EU EA WA	868
--	rs7167216^1,2	C,F,H	89155525(+)	`TACCCG/ATATCT`	1	I/V	mis¹ ese³		14	NS EU EA WA NA	1108
	rs11852361^1,2	C,F,H	89127103(+)	`ATTACC/TGAAAA`	1	P/L	mis¹		14	EU EA WA NS	1190
	rs28384991^1,2	F	89096114(+)	`TGATAC/TGGATT`	1	T/M	mis¹ ese³		5	NS	182
	rs28363374^1,2	F	89159621(+)	`CTCGTC/TTCTAT`	1	--	ut3¹ ese³		5	NS	182
	rs1063147^1,2	C,F,O	89155509(+)	`GAGCTC/TGACGA`	1	L/L	syn¹		15	EA NA EU NS WA	2508
	rs2227934^1,2	C,F,H	89147927(+)	`AAAGCC/ACAAAC`	1	A/A	syn¹		14	MN NA NS EU EA WA	860
	rs2227933^1,2	C,F,O	89138483(+)	`ATAACG/AGAATG`	1	T/T	syn¹		11	MN EA NA NS	1930
	rs28377085^1,2	C	89155443(+)	`GCTGAA/GGACAG`	1	E/E	syn¹ ese³		5	NS	190
	rs28385009^1,2	F	89104415(+)	`ATTCAT/CGTGAT`	1	H/H	syn¹		5	NS	184

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HapMap Linkage Disequilibrium images for BLM (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 612426

UniProtKB/Swiss-Prot: BLM_HUMAN, P54132

Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM is an autosomal

recessive disorder characterized by proportionate pre- and postnatal growth deficiency,

sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and

chromosomal instability

10/15 Novoseek disease relationships for BLM gene (see all 15 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
bloom syndrome	98.62	97	15137905 (5), 18401830 (3), 17407155 (2), 9285778 (2) (see all 71)
rothmund-thomson syndrome	91.79	12	15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 12)
werner syndrome	91.73	17	15702347 (1), 12595564 (1), 16793396 (1), 17623900 (1) (see all 17)
skin abnormalities	69.94	2	19238688 (1)
ataxia telangiectasia	69.87	6	16199871 (1), 17768402 (1), 11309417 (1), 17984114 (1) (see all 6)
genetic disorder	68.53	6	12595564 (1), 18401830 (1), 18430459 (1), 17634426 (1) (see all 6)
cancer	56.90	32	16181657 (1), 17599064 (1), 18682526 (1), 12595564 (1) (see all 28)
nijmegen breakage syndrome	50.50	1	11733219 (1)
chromosomal aberrations	43.75	2	10652259 (1), 10620009 (1)
microsatellite instability	37.31	1	10861498 (1)

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Genatlas disease: BLM

Bloom syndrome,characterized by dwarfism,sun sensitivity,immunodeficiency and a high risk for

various cancers,,with increased chromosomal instability (increased large DNA deletions) and sister

chromatide exchanges

GeneTests: BLM

Bloom's Syndrome

Human Gene Mutation Database: BLM
Genetic Association Database: BLM
Human Genome Epidemiology Navigator: BLM (29 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/224 PubMed articles for BLM gene (see all 224 ):

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PubMed id 9285778)^{1, 3, 4, 6} Foucault F.... Amor-Gueret M. (1997)
The Bloom's syndrome gene product is a 3'-5' DNA helicase. (PubMed id 9388193)^{2, 3, 4} Karow J.K.... Hickson I.D. (1997)
A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PubMed id 16595695)^{1, 3, 4} Raynard S.... Sung P. (2006)
The Bloom's syndrome gene product is homologous to RecQ helicases. (PubMed id 7585968)^{1, 3, 4} Ellis N.A.... German J. (1995)
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PubMed id 11876000)^{1, 3, 6} 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, 3, 4} Wang Y.... Qin J. (2000)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{3, 4} Beausoleil S.A.... Gygi S.P. (2006)
Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220)^{3, 4} Nousiainen M.... Koerner R. (2006)
Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. (PubMed id 15959913)^{3, 6} Zauber N.P....Bishop D.T. (2005)
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)^{3, 6} Koren-Michowitz M....Amariglio N. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 641	HGNC: 1058	AceView: BLM	Ensembl:ENSG00000197299	euGenes: HUgn641
ECgene: BLM	H-InvDB: BLM

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for BLM	Genetics and Cytogenetics in Oncology and Haematology
BLMbase	http://bioinf.uta.fi/BLMbase/
GeneReviews	http://www.genetests.org/query?gene=BLM
NIEHS-SNPs	http://egp.gs.washington.edu/data/blm/

Licensable Technologies for BLM
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for BLM:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BLM-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for BLM		Antibodies for BLM
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for BLM		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (BLM)
	Antibodies (BLM)
	Chimera RNAi (BLM)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for BLM

	Recombinant Proteins (Blooms Syndrome Protein Blm)
	Antibodies (Blooms Syndrome Protein Blm)

Search OriGene for BLM

Search Tocris compounds for BLM

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Antibodies for BLM

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
BLM Gene at Home site.
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BLM Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for BLM

Summaries
for BLM

Genomic Location
for BLM

Proteins
for BLM

Protein Domains/
Families
for BLM

Gene Function
for BLM

Pathways & Interactions
for BLM

Drugs & Compounds
for BLM

Transcripts
for BLM

Expression
for BLM

Orthologs
for BLM

Paralogs
for BLM

SNPs/Variants
for BLM

Disorders & Mutations
for BLM

Medical News
for BLM

Publications
for BLM

Search for BLM

Genome Databases showing BLM

Other Databases showing BLM

Specialized Databases showing BLM

Licensable Technologies
for BLM

Services
for BLM

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BLM Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor BLM

Summariesfor BLM

Genomic Locationfor BLM

Proteinsfor BLM

Protein Domains/Familiesfor BLM

Gene Functionfor BLM

Pathways & Interactionsfor BLM

Drugs & Compoundsfor BLM

Transcriptsfor BLM

Expression for BLM

Orthologsfor BLM

Paralogsfor BLM

SNPs/Variantsfor BLM

Disorders & Mutationsfor BLM

Medical Newsfor BLM

Publicationsfor BLM

Search for BLM

Genome Databases showing BLM

Other Databases showing BLM

Specialized Databases showing BLM

Licensable Technologiesfor BLM

Servicesfor BLM

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BLM

Summaries
for BLM

Genomic Location
for BLM

Proteins
for BLM

Protein Domains/
Families
for BLM

Gene Function
for BLM

Pathways & Interactions
for BLM

Drugs & Compounds
for BLM

Transcripts
for BLM

Expression
for BLM

Orthologs
for BLM

Paralogs
for BLM

SNPs/Variants
for BLM

Disorders & Mutations
for BLM

Medical News
for BLM

Publications
for BLM

Licensable Technologies
for BLM

Services
for BLM