InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Blm

Summary

InnateDB Protein

IDBP-195420.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Blm

Protein Name

Bloom syndrome, RecQ helicase-like

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000080062

InnateDB Gene

IDBG-195418 (Blm)

Protein Structure

UniProt Annotation

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). {ECO:0000269PubMed:9840919}.

Subcellular Localization

Nucleus {ECO:0000250}. 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 (By similarity). {ECO:0000250}.

Disease Associations

Tissue Specificity

Highly expressed in testis 12-14 days after birth (corresponding to the pachytene phase) and at much lower levels in brain, heart, liver, lung, thymus, kidney and spleen. {ECO:0000269PubMed:9655940}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 52 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	52 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003677	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:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0043140	ATP-dependent 3'-5' DNA helicase activity

Biological Process

GO:0000723	telomere maintenance
GO:0000729	DNA double-strand break processing
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:0032508	DNA duplex unwinding
GO:0044237	cellular metabolic process
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:0051098	regulation of binding
GO:0051276	chromosome organization
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:0001673	male germ cell nucleus
GO:0005622	intracellular
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005657	replication fork
GO:0005737	cytoplasm
GO:0045120	pronucleus

Protein Structure and Domains

PDB ID

MGI:1328362

InterPro

IPR001650 Helicase, C-terminal
IPR002121 HRDC domain
IPR004589 DNA helicase, ATP-dependent, RecQ type
IPR010997 HRDC-like
IPR011545 DNA/RNA helicase, DEAD/DEAH box type, N-terminal
IPR012532 BDHCT
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR018982 RQC domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00271
PF00570
PF00270
PF08072
PF09382

PRINTS

PIRSF

SMART

SM00490
SM00341
SM00487
SM00956

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O88700