Version 5.4
Homo sapiens Gene: BLM
Summary
InnateDB Gene IDBG-30365.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BLM
Gene Name Bloom syndrome, RecQ helicase-like
Synonyms BS; RECQ2; RECQL2; RECQL3
Species Homo sapiens
Ensembl Gene ENSG00000197299
Encoded Proteins
IDBP-30369
Bloom syndrome, RecQ helicase-like
IDBP-585118
Bloom syndrome, RecQ helicase-like
IDBP-599267
Bloom syndrome, RecQ helicase-like
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:90717327-90816165
Strand Forward strand
Band q26.1
Transcripts
ENST00000355112 ENSP00000347232
ENST00000560509 ENSP00000454158
ENST00000559724 ENSP00000453359
ENST00000559282
ENST00000558599
ENST00000559426
ENST00000560136
ENST00000560559
ENST00000558825
ENST00000560821
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 112 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 112 [view]
Protein-Protein 110 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0000405 bubble DNA binding
GO:0002039 p53 binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003697 single-stranded DNA binding
GO:0003824 catalytic activity
GO:0004003 ATP-dependent DNA helicase activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008026 ATP-dependent helicase activity
GO:0009378 four-way junction helicase activity
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0016887 ATPase activity
GO:0036310 annealing helicase activity
GO:0043140 ATP-dependent 3'-5' DNA helicase activity
GO:0051880 G-quadruplex DNA binding
Biological Process
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000085 mitotic G2 phase
GO:0000723 telomere maintenance
GO:0000724 double-strand break repair via homologous recombination
GO:0000729 DNA double-strand break processing
GO:0000733 DNA strand renaturation
GO:0006200 ATP catabolic process
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006974 cellular response to DNA damage stimulus
GO:0010165 response to X-ray
GO:0031297 replication fork processing
GO:0031572 G2 DNA damage checkpoint
GO:0032508 DNA duplex unwinding
GO:0044237 cellular metabolic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045910 negative regulation of DNA recombination
GO:0045950 negative regulation of mitotic recombination
GO:0046632 alpha-beta T cell differentiation
GO:0046641 positive regulation of alpha-beta T cell proliferation
GO:0048478 replication fork protection
GO:0051098 regulation of binding
GO:0051259 protein oligomerization
GO:0051276 chromosome organization
GO:0051782 negative regulation of cell division
GO:0070244 negative regulation of thymocyte apoptotic process
GO:0071479 cellular response to ionizing radiation
GO:0072711 cellular response to hydroxyurea
GO:0072757 cellular response to camptothecin
Cellular Component
GO:0000228 nuclear chromosome
GO:0000781 chromosome, telomeric region
GO:0000800 lateral element
GO:0001673 male germ cell nucleus
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005657 replication fork
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
GO:0016605 PML body
GO:0045120 pronucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030528
View Gene Order
ENSBTAG00000020301
Not yet available
Pathways
NETPATH
REACTOME
REACT_27271
Meiotic recombination pathway
REACT_115566
Cell Cycle pathway
REACT_111183
Meiosis pathway
KEGG
hsa03440
Homologous recombination pathway
INOH
PID NCI
fanconi_pathway
Fanconi anemia pathway
atm_pathway
ATM pathway
telomerasepathway
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.725208
RefSeq NM_000057 NM_001287246 NM_001287247 NM_001287248 XM_006720632
HUGO
OMIM
CCDS CCDS10363 CCDS73782
HPRD 05211
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca