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Calbiochem Information
Interactive Pathways
Checkpoint Signaling & DNA Repair
Checkpoint Signaling and DNA Repair: NBS1
 
NBS1 Antibodies
 
Additional Information
 
 
 
 

Protein : NBS1

SwissProt Accessions | Entrez Gene links

Connectivity 91
Notes 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.
Hugo ID 7652
Name NBS1
Description nibrin
URN urn:agi-llid:4683

GO Cellular Component nucleus
replication fork

Cell Localization Nucleus

GO Biological Process cell cycle checkpoint
regulation of cell proliferation
DNA damage checkpoint
double-strand break repair

MGI ID 1351625

Swiss-Prot Accession  O60934

OMIM ID OMIM:602667
OMIM:251260

Alias Nbn
Nbs1
nibrin
ATV
NBS
AT-V1
AT-V2
p95
Nijmegen breakage syndrome 1 (nibrin)
p95 protein of the MRE11/RAD50 complex
AT-V I
Cell cycle regulatoryprotein P95
Nbs I
NIJMEGEN BREAKAGE syndrome protein 1
NIJMEGEN BREAKAGE syndrome protein I

Organism Rattus norvegicus
Mus musculus
Human

Entrez ID  85482
27354
4683

RGD ID 621420

Pathway ATM signaling
DNA Repair

Unigene ID Rn.25214
Mm.20866
Hs.25812

Group nucleic acid binding