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Sequence in raw or FASTA format:

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NBN nibrin [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_002485 Homo sapiens nibrin (NBN), mRNA. ORF Sequence $656.85
Peptide Services
Antibody Services
Protein Services


Gene Symbol NBN
Entrez Gene ID 4683
Full Name nibrin
Synonyms AT-V1, AT-V2, ATV, FLJ10155, MGC87362, NBS, NBS1, P95
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

8

8q21

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].
Disorder

MIM: 602667

Nijmegen breakage syndrome, 251260 (3); Leukemia, acute

mRNA Protein Product Sequence Price Select
NM_002485, 67189763 NP_002476, 33356172 nibrin Full Length $1623.65
ORF Sequence $656.85
KEGG
hsa03440Homologous recombination
hsa_M00291MRN complex
hsa_M00295BRCA1-associated genome surveillance complex (BASC)
WikiPathways
WP186Homologous recombination
WP707DNA damage response
Pathway Interaction Database
bard1pathwayBARD1 signaling events
telomerasepathwayRegulation of Telomerase
myc_activpathwayValidated targets of C-MYC transcriptional activation
Reactome
REACT_1884MRN complex relocalizes to nuclear foci
REACT_204ATM mediated response to DNA double-strand break
REACT_97Recruitment of repair and signaling proteins to double-strand breaks
REACT_1874Homologous Recombination Repair
REACT_111183Meiosis
REACT_1587Homologous recombination repair of replication-independent double-strand breaks
REACT_216DNA Repair
REACT_1924ATM mediated phosphorylation of repair proteins
REACT_27271Meiotic Recombination
REACT_2054Double-Strand Break Repair
REACT_486Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks
Homo sapiens (human)NBNNP_002476.2
Pan troglodytes (chimpanzee)NBNXP_519851.3
Macaca mulatta (Rhesus monkey)NBNXP_001085033.1
Canis lupus familiaris (dog)NBNXP_854066.3
Bos taurus (cattle)NBNNP_001069305.2
Mus musculus (house mouse)NbnNP_038780.3
Rattus norvegicus (Norway rat)NbnNP_620228.1
Gallus gallus (chicken)NBNNP_989668.1
Danio rerio (zebrafish)nbnNP_001014819.1
GeneCards NBN
UniProt O60934
MIM 602667
Ensembl ENSG00000104320
HGNC 7652
HPRD 04050

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
nibrin
Names
nibrin
cell cycle regulatory protein p95
Nijmegen breakage syndrome 1 (nibrin)
p95 protein of the MRE11/RAD50 complex

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