InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BLM

Summary

InnateDB Protein

IDBP-30369.6

Last Modified

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

Gene Symbol

BLM

Protein Name

Bloom syndrome, RecQ helicase-like

Synonyms

BS; RECQ2; RECQL2; RECQL3;

Species

Homo sapiens

Ensembl Protein

ENSP00000347232

InnateDB Gene

IDBG-30365 (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:12019152, ECO:0000269PubMed:21325134, ECO:0000269PubMed:23509288, ECO:0000269PubMed:9388193}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:23509288}. 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.

Disease Associations

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:0000269PubMed:10862105, ECO:0000269PubMed:7585968, ECO:0000269PubMed:9285778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001650 Helicase, C-terminal
IPR002121 HRDC domain
IPR004589 DNA helicase, ATP-dependent, RecQ type
IPR010997 HRDC-like
IPR011545 DEAD/DEAH box helicase domain
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

P54132