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Aliases for BLM Gene

Aliases for BLM Gene

  • Bloom Syndrome RecQ Like Helicase 2 3
  • Bloom Syndrome, RecQ Helicase-Like 3 5
  • DNA Helicase, RecQ-Like Type 2 3 4
  • RecQ Protein-Like 3 3 4
  • RECQL3 3 4
  • RECQ2 3 4
  • Bloom Syndrome 2
  • EC 3.6.4.12 4
  • EC 3.6.1 63
  • RECQL2 3
  • BS 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 Like Helicase) is a Protein Coding gene. Diseases associated with BLM include bloom syndrome and werner syndrome. Among its related pathways are Gene Expression and Transport to the Golgi and subsequent modification. GO annotations related to this gene include nucleic acid binding and ATPase 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

Promoters for BLM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BLM on UCSC Golden Path with GeneCards custom track

Genomic Location for BLM Gene

Chromosome:
15
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

Genes around BLM on UCSC Golden Path with GeneCards custom track

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BLM (BLM)

Domains & Families for BLM Gene

Gene Families for BLM Gene

Suggested Antigen Peptide Sequences for BLM Gene

Graphical View of Domain Structure for InterPro Entry

P54132

UniProtKB/Swiss-Prot:

BLM_HUMAN :
  • Contains 1 helicase ATP-binding domain.
  • Belongs to the helicase family. RecQ subfamily.
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

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 IEA --
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IDA 12818200
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 10728666
genes like me logo Genes that share ontologies with BLM: view
genes like me logo Genes that share phenotypes with BLM: view

Human Phenotype Ontology for BLM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BLM Gene

MGI Knock Outs for BLM:

Animal Model Products

miRNA for BLM Gene

No data available for Transcription Factor Targets 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 2

Gene Ontology (GO) - Cellular Components for BLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000800 lateral element IDA 10728666
GO:0005654 nucleoplasm TAS --
GO:0016605 colocalizes_with PML body IDA 10779560
genes like me logo Genes that share ontologies with BLM: view

Pathways & Interactions for BLM Gene

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

SIGNOR curated interactions for BLM Gene

Is activated by:

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:0000724 double-strand break repair via homologous recombination NAS,TAS 11309417
GO:0000732 strand displacement TAS --
GO:0000733 DNA strand renaturation IDA 17878217
GO:0006260 DNA replication IEA,TAS --
genes like me logo Genes that share ontologies with BLM: view

Drugs & Compounds for BLM Gene

(26) Drugs for BLM Gene - From: HMDB, Novoseek, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bleomycin Approved Pharma 144
Dacarbazine Approved, Investigational Pharma 411
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1582
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1582
rituximab Approved Pharma Therapeutic Antibodies 1582

(4) Additional Compounds for BLM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

Protein differential expression in normal tissues from HIPED for BLM Gene

This gene is overexpressed in Lymph node (23.3) and Uterus (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BLM: view

Protein tissue co-expression partners for BLM Gene

Primer Products

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 36
  • 83 (a)
OneToOne
BLM 35
  • 86.15 (n)
  • 82.83 (a)
dog
(Canis familiaris)
Mammalia BLM 35
  • 86.94 (n)
  • 83.29 (a)
BLM 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blm 36
  • 76 (a)
OneToOne
Blm 16
Blm 35
  • 82.25 (n)
  • 77.27 (a)
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 36
  • 53 (a)
OneToOne
BLM 35
  • 59.66 (n)
  • 55.84 (a)
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 36
  • 46 (a)
OneToOne
blm 35
  • 67.26 (n)
  • 73.08 (a)
Dr.13183 35
fruit fly
(Drosophila melanogaster)
Insecta mus309 37
  • 38 (a)
mus309 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea him-6 37
  • 40 (a)
him-6 36
  • 32 (a)
OneToOne
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

(1) 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
VAR_006901 Bloom syndrome (BLM)
VAR_006902 Bloom syndrome (BLM)
VAR_006903 Bloom syndrome (BLM)
VAR_009138 Bloom syndrome (BLM)
VAR_009139 Bloom syndrome (BLM)

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

Variation tolerance for BLM Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLM Gene

HapMap Linkage Disequilibrium report
BLM
Human Gene Mutation Database (HGMD)
BLM

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

Disorders for BLM Gene

MalaCards: The human disease database

(7) MalaCards diseases for BLM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bloom syndrome
  • bloom-torre-machacek syndrome
werner syndrome
  • adult premature ageing syndrome
rothmund-thomson syndrome
  • erythrokeratodermia variabilis
ewing sarcoma
  • neuroepithelioma
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search BLM in MalaCards View complete list of genes associated with diseases

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.

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

Genetic Association Database (GAD)
BLM
Human Genome Epidemiology (HuGE) Navigator
BLM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PMID: 19945966) Frank B. … Brenner H. (Carcinogenesis 2010) 3 23
  3. A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. (PMID: 19205873) Wang Z. … Shen H. (Breast Cancer Res. Treat. 2009) 3 23
  4. Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. (PMID: 18974064) Ding S.L. … Shen C.Y. (Carcinogenesis 2009) 3 23
  5. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PMID: 19432957) Broberg K. … HAPglund M. (BMC Cancer 2009) 3 23

Products for BLM Gene

Sources for BLM Gene

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