InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NBN

Summary

InnateDB Gene

IDBG-28009.6

Last Modified

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

Gene Symbol

NBN

Gene Name

nibrin

Synonyms

AT-V1; AT-V2; ATV; NBS; NBS1; P95

Species

Homo sapiens

Ensembl Gene

ENSG00000104320

Encoded Proteins

IDBP-28011

nibrin

IDBP-237887

nibrin

IDBP-293062

nibrin

IDBP-481905

nibrin

IDBP-483849

nibrin

IDBP-485466

nibrin

IDBP-480484

nibrin

IDBP-810464

nibrin

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 8:89933336-90003228

Strand

Reverse strand

Band

q21.3

Transcripts

ENST00000265433	ENSP00000265433
ENST00000396252	ENSP00000379551
ENST00000409330	ENSP00000386924
ENST00000474821
ENST00000520325
ENST00000519426	ENSP00000430983
ENST00000517772	ENSP00000428717
ENST00000523444	ENSP00000428252
ENST00000517337	ENSP00000429971
ENST00000494804
ENST00000613033	ENSP00000484487

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 111 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	112 [view]
Protein-Protein	112 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [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:0000724	double-strand break repair via homologous recombination
GO:0001701	in utero embryonic development
GO:0001832	blastocyst growth
GO:0006281	DNA repair
GO:0006302	double-strand break repair
GO:0007050	cell cycle arrest
GO:0007093	mitotic cell cycle checkpoint
GO:0007095	mitotic G2 DNA damage checkpoint
GO:0007126	meiotic nuclear division
GO:0008283	cell proliferation
GO:0030174	regulation of DNA-dependent DNA replication initiation
GO:0030330	DNA damage response, signal transduction by p53 class mediator
GO:0031954	positive regulation of protein autophosphorylation
GO:0032508	DNA duplex unwinding
GO:0033674	positive regulation of kinase activity
GO:0045190	isotype switching
GO:0050885	neuromuscular process controlling balance
GO:0097193	intrinsic apoptotic signaling pathway

Cellular Component

GO:0000784	nuclear chromosome, telomeric region
GO:0005634	nucleus
GO:0005654	nucleoplasm
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