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Aliases for BLM Gene

Aliases for BLM Gene

  • Bloom Syndrome, RecQ Helicase-Like 2 3
  • RECQL3 3 4 6
  • RECQ2 3 4 6
  • DNA Helicase, RecQ-Like Type 2 3 4
  • RecQ Protein-Like 3 3 4
  • BS 3 6
  • Bloom Syndrome Protein 3
  • Bloom Syndrome 2
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • RECQL2 3

External Ids for BLM Gene

Previous GeneCards Identifiers for BLM Gene

  • GC15P087894
  • GC15P085101
  • GC15P088847
  • GC15P088990
  • GC15P089061
  • GC15P091260
  • GC15P067371

Summaries for BLM Gene

Entrez Gene Summary for BLM Gene

  • 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]

GeneCards Summary for BLM Gene

BLM (Bloom Syndrome, RecQ Helicase-Like) is a Protein Coding gene. Diseases associated with BLM include bloom syndrome and rothmund-thomson syndrome. Among its related pathways are Integrated Pancreatic Cancer Pathway and Cell Cycle / Checkpoint Control. GO annotations related to this gene include ATPase activity and ATP-dependent helicase activity. An important paralog of this gene is RECQL.

UniProtKB/Swiss-Prot for BLM Gene

  • 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. 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. Negatively regulates sister chromatid exchange (SCE).

Gene Wiki entry for BLM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLM Gene

Genomics for BLM Gene

Regulatory Elements for BLM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BLM Gene

Start:
90,717,327 bp from pter
End:
90,816,165 bp from pter
Size:
98,839 bases
Orientation:
Plus strand

Genomic View for BLM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLM Gene

Proteins for BLM Gene

  • Protein details for BLM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54132-BLM_HUMAN
    Recommended name:
    Bloom syndrome protein
    Protein Accession:
    P54132
    Secondary Accessions:
    • Q52M96

    Protein attributes for BLM Gene

    Size:
    1417 amino acids
    Molecular mass:
    159000 Da
    Quaternary structure:
    • 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 (via N-terminal region) component of RMI complex. Interacts with SUPV3L1. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with TOP3A (via N-terminal region). Interacts with SPIDR (via C-terminal region); the interaction is direct and required to target BLM to sites of DNA damage.

    Three dimensional structures from OCA and Proteopedia for BLM Gene

neXtProt entry for BLM Gene

Proteomics data for BLM Gene at MOPED

Selected DME Specific Peptides for BLM Gene

Post-translational modifications for BLM Gene

  • Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLM Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for BLM Gene

Suggested Antigen Peptide Sequences for BLM Gene

Graphical View of Domain Structure for InterPro Entry

P54132

UniProtKB/Swiss-Prot:

BLM_HUMAN :
  • P54132
Domain:
  • Contains 1 helicase ATP-binding domain.
  • Contains 1 helicase C-terminal domain.
  • Contains 1 HRDC domain.
Family:
  • Belongs to the helicase family. RecQ subfamily.
genes like me logo Genes that share domains with BLM: view

No data available for Gene Families for BLM Gene

Function for BLM Gene

Molecular function for BLM Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot 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. 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. Negatively regulates sister chromatid exchange (SCE).

Enzyme Numbers (IUBMB) for BLM Gene

Gene Ontology (GO) - Molecular Function for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0000405 bubble DNA binding IDA 11433031
GO:0002039 p53 binding IPI 11781842
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with BLM: view
genes like me logo Genes that share phenotypes with BLM: view

Animal Models for BLM Gene

MGI Knock Outs for BLM:

Animal Model Products

CRISPR Products

miRNA for BLM Gene

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLM

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for BLM Gene

Localization for BLM Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLM Gene

Nucleus. Note=Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLM Gene COMPARTMENTS Subcellular localization image for BLM gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome IDA 23509288
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 --
genes like me logo Genes that share ontologies with BLM: view

Pathways for BLM Gene

genes like me logo Genes that share pathways with BLM: view

Pathways by source for BLM Gene

1 Qiagen pathway for BLM Gene
2 Cell Signaling Technology pathways for BLM Gene
2 Reactome pathways for BLM Gene
2 KEGG pathways for BLM Gene
1 GeneGo (Thomson Reuters) pathway for BLM Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IMP 15604258
GO:0000723 telomere maintenance IEA --
GO:0000724 double-strand break repair via homologous recombination NAS 11309417
GO:0000729 DNA double-strand break processing IDA 21325134
GO:0000733 DNA strand renaturation IDA 17878217
genes like me logo Genes that share ontologies with BLM: view

Compounds for BLM Gene

(1) HMDB Compounds for BLM Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(4) Novoseek inferred chemical compound relationships for BLM Gene

Compound -log(P) Hits PubMed IDs
hydroxyurea 61.1 9
methylmethanesulfonate 59.8 1
camptothecin 31.1 3
atp 1.33 7
genes like me logo Genes that share compounds with BLM: view

Transcripts for BLM Gene

Unigene Clusters for BLM Gene

Bloom syndrome, RecQ helicase-like:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLM

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BLM

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLM Gene

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:
SP6:

ExUns: 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for BLM Gene

GeneLoc Exon Structure for
BLM
ECgene alternative splicing isoforms for
BLM

Expression for BLM Gene

mRNA expression in normal human tissues for BLM Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BLM Gene

SOURCE GeneReport for Unigene cluster for BLM Gene Hs.725208

genes like me logo Genes that share expressions with BLM: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BLM Gene

Orthologs for BLM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BLM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLM 35
  • 99.22 (n)
  • 98.52 (a)
BLM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLM 35
  • 86.15 (n)
  • 82.83 (a)
BLM 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLM 35
  • 86.94 (n)
  • 83.29 (a)
BLM 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blm 35
  • 82.25 (n)
  • 77.27 (a)
Blm 16
Blm 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BLM 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLM 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blm 35
  • 80.7 (n)
  • 75.73 (a)
chicken
(Gallus gallus)
Aves BLM 35
  • 59.66 (n)
  • 55.84 (a)
BLM 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLM 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia blm-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia blm 35
  • 67.86 (n)
  • 73.08 (a)
Str.4549 35
zebrafish
(Danio rerio)
Actinopterygii blm 35
  • 67.26 (n)
  • 73.08 (a)
blm 36
  • 46 (a)
OneToOne
Dr.13183 35
fruit fly
(Drosophila melanogaster)
Insecta mus309 36
  • 29 (a)
OneToOne
mus309 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea him-6 36
  • 32 (a)
OneToOne
him-6 37
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGS1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1380 35
Species with no ortholog for BLM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BLM Gene

ENSEMBL:
Gene Tree for BLM (if available)
TreeFam:
Gene Tree for BLM (if available)

Paralogs for BLM Gene

Paralogs for BLM Gene

Selected SIMAP similar genes for BLM Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for BLM Gene

genes like me logo Genes that share paralogs with BLM: view

Variants for BLM Gene

Sequence variations from dbSNP and Humsavar for BLM Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs3422 -- 90,790,520(-) TAATA(C/T)CTTAA intron-variant
rs371056 -- 90,728,777(-) gtttt(C/T)ctata intron-variant
rs374294 -- 90,813,799(-) GAGCA(C/G)ACTGG intron-variant
rs374678 -- 90,813,655(-) ATCCC(A/G)GCACT intron-variant
rs376217 -- 90,810,242(-) cccca(A/T)ctcta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BLM Gene

Variant ID Type Subtype PubMed ID
nsv94962 CNV Loss 16902084
esv2673999 CNV Deletion 23128226

Relevant External Links for BLM Gene

HapMap Linkage Disequilibrium report
BLM
Human Gene Mutation Database (HGMD)
BLM
Locus Specific Mutation Databases (LSDB)
BLM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLM Gene

Disorders for BLM Gene

(1) OMIM Diseases for BLM Gene (604610)

UniProtKB/Swiss-Prot

BLM_HUMAN
  • Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability. {ECO:0000269 PubMed:10862105, ECO:0000269 PubMed:7585968, ECO:0000269 PubMed:9285778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for BLM Gene

(15) Novoseek inferred disease relationships for BLM Gene

Disease -log(P) Hits PubMed IDs
bloom syndrome 98.7 94
werner syndrome 92 19
rothmund-thomson syndrome 91.1 12
ataxia telangiectasia 69.9 7
skin abnormalities 68.4 1

Genatlas disease for BLM Gene

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

Relevant External Links for BLM

GeneTests
BLM
GeneReviews
BLM
Genetic Association Database (GAD)
BLM
Human Genome Epidemiology (HuGE) Navigator
BLM
genes like me logo Genes that share disorders with BLM: view

Publications for BLM Gene

  1. Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. (PMID: 9285778) Foucault F. … Amor-Gueret M. (Hum. Mol. Genet. 1997) 3 4 23 48
  2. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. (PMID: 10783165) Wang Y. … Qin J. (Genes Dev. 2000) 3 4 23
  3. The Bloom's syndrome gene product is homologous to RecQ helicases. (PMID: 7585968) Ellis N.A. … German J. (Cell 1995) 3 4 23
  4. Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PMID: 11876000) Peleg L. … Barkai G. (Isr. Med. Assoc. J. 2002) 3 23 48
  5. A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PMID: 16595695) Raynard S. … Sung P. (J. Biol. Chem. 2006) 3 4 23

Products for BLM Gene

Sources for BLM Gene

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