Also known as AT-V1, AT-V2, ATV, NBS, NBS1, P95, nibrin
Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.
Gene data
NBN- Name
- nibrin
- Type
- protein-coding
- Position
- 89,924,515–90,003,228 (−)
- Aliases
- AT-V1, AT-V2, ATV, NBS, NBS1, P95, hNbs1
- Ensembl
- ENSG00000104320
- RefSeq RNA
- NM_001024688.3, NM_001440379.1, NM_001440380.1, NM_002485.5, XM_011517046.2
- RefSeq protein
- NP_001019859.1, NP_001427308.1, NP_001427309.1, NP_002476.2, XP_011515348.1
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 Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
nibrin
- Symbol
- NBN
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:89,924,515-90,003,228
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 1858
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4683
- genomic end
- 91015456
- genomic start
- 89933331
- chromosome
- human chromosome 8
- cytogenetic location
- 8q21.3
- genetic association
- Nijmegen breakage syndrome
- expressed in
- bone marrow
Sources (7)
via Wikidata · CC0
~8 min read
Encyclopedic overview
11 sectionsContents
- Function
- Cellular response to DSBs
- Double strand breaks (DSBs)
- DSB mutations
- Fertility
- NBS1 over-expression in cancer
- Herpes virus
- Interactions
- References
- Further reading
- External links
Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.
== Function ==
Excerpted from Wikipedia’s “NBN” article, available under the CC BY-SA 4.0 licence.