| Gene Information | |
|---|---|
| Gene Name | NBS |
| Organism | Homo sapiens (Human) |
| Gene Length | 754 |
| Protein Names | Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O60934 |
| Gene Card | NBN |
| Uniprot ID | O60934 |
| Pfam | PF00498; PF08599; PF16508 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitous (PubMed:9590180). Expressed at high levels in testis (PubMed:9590180). {ECO:0000269|PubMed:9590180}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.346674(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5WQD (X-ray 3.00A ) 7SID (EM 2.53A ) |
| DBSNP | rs12721593 rs61753720 rs13312858 rs769414 rs773119929 rs61754966 rs1805794 rs61754796 rs34767364 rs769416 rs769420 rs34120922 rs3026268 rs142334798 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:10783165, ECO:0000269|PubMed:26215093}. Nucleus, PML body {ECO:0000269|PubMed:12470659, ECO:0000269|PubMed:15916964}. Chromosome, telomere {ECO:0000269|PubMed:10888888}. Chromosome {ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26438602}. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents (PubMed:26438602, PubMed:10783165, PubMed:26215093). Acetylation of 'Lys-5' of histone H2AX (H2AXK5ac) promotes NBN/NBS1 assembly at the sites of DNA damage (PubMed:26438602). {ECO:0000269|PubMed:10783165, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26438602}. |
| Mouse PG classification | NA |
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