Nbn - nibrin Gene

Also Known as Nbs1

Species: Mus musculus

Gene Type: protein coding

Gene ID: 27354

Summary

Enables damaged DNA binding activity. Involved in blastocyst growth and isotype switching. Acts upstream of or within cell population proliferation; intracellular signal transduction; and neuromuscular process controlling balance. Located in PML body and replication fork. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; breast cancer; and reproductive organ Cancer (multiple). Orthologous to human NBN (nibrin). [provided by Alliance of Genome Resources, Apr 2022]

Nbn Products (1)

mRNA	Protein	Name
NM_013752.3	NP_038780.3	nibrin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin-protein adaptor activity	IDA IDA: Inferred from direct assay	28216226	MGI
enables damaged DNA binding	IDA IDA: Inferred from direct assay	11934988	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	17429352	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in blastocyst growth	IMP IMP: Inferred from mutant phenotype	14612522	MGI
involved in double-strand break repair via alternative nonhomologous end joining	IDA IDA: Inferred from direct assay	28216226	MGI
involved in in utero embryonic development	IMP IMP: Inferred from mutant phenotype	14612522	MGI
acts upstream of or within intrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	18614044	MGI
involved in isotype switching	IDA IDA: Inferred from direct assay	15668383	MGI
acts upstream of or within mitotic G2 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	18614044	MGI
acts upstream of or within neuroblast proliferation	IMP IMP: Inferred from mutant phenotype	15821748	MGI
acts upstream of or within neuromuscular process controlling balance	IMP IMP: Inferred from mutant phenotype	15821748	MGI
involved in protection from non-homologous end joining at telomere	IDA IDA: Inferred from direct assay	28216226	MGI
involved in telomere maintenance in response to DNA damage	IDA IDA: Inferred from direct assay	28216226	MGI

Cellular Component GO Annotation	Evidence	References	Source
part of Mre11 complex	IDA IDA: Inferred from direct assay	18854157	MGI
located in PML body	IDA IDA: Inferred from direct assay	23444137	MGI
colocalizes with chromosome, telomeric region	IDA IDA: Inferred from direct assay	23444137	MGI
is active in chromosome, telomeric region	IDA IDA: Inferred from direct assay	28216226	MGI
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	10811102	MGI
located in nucleus	IDA IDA: Inferred from direct assay	11555636	MGI
located in replication fork	IDA IDA: Inferred from direct assay	11934988	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
nibrin	cell cycle regulatory protein p95 nijmegen breakage syndrome protein 1 homolog

Nbn Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	Nbn	Q9R207	Mre11	Mus musculus	Q61216	Anti Bait CoIP	17429352

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09057	NBN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01048	ARTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18740	Nbn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25227	Nbn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nbn	NCBI	NCBI:4683