InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nbn

Summary

InnateDB Gene

IDBG-130577.6

Last Modified

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

Gene Symbol

Nbn

Gene Name

nibrin

Synonyms

Nbs1

Species

Mus musculus

Ensembl Gene

ENSMUSG00000028224

Encoded Proteins

IDBP-130579

nibrin

IDBP-537893

nibrin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000104320:
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:15957925-15992589

Strand

Forward strand

Band

Transcripts

ENSMUST00000029879	ENSMUSP00000029879
ENSMUST00000149069	ENSMUSP00000120829

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 62 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	62 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003684	damaged DNA binding
GO:0004003	ATP-dependent DNA helicase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0047485	protein N-terminus binding

Biological Process

GO:0000077	DNA damage checkpoint
GO:0000723	telomere maintenance
GO:0001701	in utero embryonic development
GO:0001832	blastocyst growth
GO:0006302	double-strand break repair
GO:0007093	mitotic cell cycle checkpoint
GO:0007095	mitotic G2 DNA damage checkpoint
GO:0007126	meiotic nuclear division
GO:0008283	cell proliferation
GO:0031954	positive regulation of protein autophosphorylation
GO:0032508	DNA duplex unwinding
GO:0033674	positive regulation of kinase activity
GO:0045190	isotype switching
GO:0048145	regulation of fibroblast proliferation
GO:0050885	neuromuscular process controlling balance
GO:0097193	intrinsic apoptotic signaling pathway

Cellular Component

GO:0000784	nuclear chromosome, telomeric region
GO:0005634	nucleus
GO:0005657	replication fork
GO:0005730	nucleolus
GO:0016605	PML body
GO:0030870	Mre11 complex
GO:0035861	site of double-strand break
GO:0042405	nuclear inclusion body