NBN - nibrin Gene
Also Known as ATV; NBS; P95; NBS1; AT-V1; AT-V2
Species: Homo sapiens
About NBN
This gene has 38 transcripts (splice variants), 200 orthologues and is associated with 96 phenotypes. Ubiquitous expression in appendix (RPKM 14.8), thyroid (RPKM 14.2) and 25 other tissues.
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]
NBN Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001024688.3 | NP_001019859.1 | nibrin isoform 2 |
| NM_002485.5 | NP_002476.2 | nibrin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
11486038 | GOA |
| enables chromatin-protein adaptor activity |
IDA
IDA: Inferred from direct assay
|
18411307 | GOA |
| enables histone binding |
IPI
IPI: Inferred from physical interaction
|
19338747 | GOA |
| enables phosphorylation-dependent protein binding |
IDA
IDA: Inferred from direct assay
|
18411307 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9590181 | GOA |
| enables protein serine/threonine kinase activator activity |
IDA
IDA: Inferred from direct assay
|
16622404 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of BRCA1-C complex |
IPI
IPI: Inferred from physical interaction
|
16391231 | GOA |
| part of Mre11 complex |
IDA
IDA: Inferred from direct assay
|
9590181 | GOA |
| part of Mre11 complex |
IPI
IPI: Inferred from physical interaction
|
31147924 | GOA |
| located in PML body |
IDA
IDA: Inferred from direct assay
|
10811102 | GOA |
| is active in chromosome, telomeric region |
IDA
IDA: Inferred from direct assay
|
28216226 | GOA |
| located in chromosome, telomeric region |
IDA
IDA: Inferred from direct assay
|
10888888 | GOA |
| located in nuclear inclusion body |
IDA
IDA: Inferred from direct assay
|
12447371 | GOA |
| located in nucleolus |
IDA
IDA: Inferred from direct assay
|
10888888 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
10888888 | GOA |
| is active in site of double-strand break |
IDA
IDA: Inferred from direct assay
|
16622404 | GOA |
| located in site of double-strand break |
IDA
IDA: Inferred from direct assay
|
15916964 | GOA |
NBN Protein Structure
FHA: FHA domain (24 - 100)
Nbs1_C: DNA damage repair protein Nbs1 (683 - 746)
- 0
- 200
- 400
- 600
- 754 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nibrin |
|
NBN Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NBN | O60934 | VRK1 | Homo sapiens | Q99986 | 26869104 | |
|
Intra
|
NBN | O60934 | VRK1 | Homo sapiens | Q99986 | 26869104 | |
|
Intra
|
NBN | O60934 | VRK1 | Homo sapiens | Q99986 | 26869104 | |
|
Intra
|
NBN | O60934 | VRK1 | Homo sapiens | Q99986 | 26869104 | |
|
Intra
|
NBN | O60934 | VRK1 | Homo sapiens | Q99986 | 26869104 | |
|
Intra
|
NBN | O60934 | SIRT1 | Homo sapiens | Q96EB6 | 17612497 | |
|
Intra
|
NBN | O60934 | SIRT1 | Homo sapiens | Q96EB6 | 17612497 | |
|
Intra
|
NBN | O60934 | FANCD2 | Homo sapiens | Q9BXW9 | 19609304 | |
|
Intra
|
NBN | O60934 | TCOF1 | Homo sapiens | Q13428 | 25064736 | |
|
Intra
|
NBN | O60934 | TCOF1 | Homo sapiens | Q13428 | 25064736 | |
|
Intra
|
NBN | O60934 | TCOF1 | Homo sapiens | Q13428 | 25064736 | |
|
Intra
|
NBN | O60934 | TCOF1 | Homo sapiens | Q13428 | 25064736 | |
|
Intra
|
NBN | O60934 | TCOF1 | Homo sapiens | Q13428 | 25064736 | |
|
Intra
|
NBN | O60934 | MRE11 | Homo sapiens | P49959 | 17612497 | |
|
Intra
|
NBN | O60934 | EP300 | Homo sapiens | Q09472 | 21108945 | |
|
Intra
|
NBN | O60934 | H2AX | Homo sapiens | P16104 | 18001824 | |
|
Intra
|
NBN | O60934 | H2AX | Homo sapiens | P16104 | 18001825 | |
|
Intra
|
NBN | O60934 | H2AX | Homo sapiens | P16104 | 12419185 | |
|
Intra
|
NBN | O60934 | H2AX | Homo sapiens | P16104 | 22157895 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 12607005 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 18583988 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 18001824 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 18001824 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 12607005 | |
|
Intra
|
NBN | O60934 | MDC1 | Homo sapiens | Q14676 | 18678890 | |
|
Intra
|
NBN | O60934 | RAD17 | Homo sapiens | O75943 | 24534091 | |
|
Intra
|
NBN | O60934 | RAD17 | Homo sapiens | O75943 | 24534091 |
NBN Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80473 | Phospho-p95/NBS1 (Ser343) Antibody (YA165) | WB, ICC/IF, IHC-P, IP | Human, Mouse |
| HY-P81775 | p95/NBS1 Antibody (YA1520) | WB, ICC/IF, IP | Human |
| HY-P81775A | p95/NBS1 Antibody (YA1520)(PBS only) | WB, ICC/IF, IP | Human |
| HY-P83358 | Phospho-p95/NBS1 (Ser343) Antibody (YA3103) | WB, ICC/IF, IP | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nijmegen Breakage Syndrome |
|
|
| Aplastic Anemia |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Ovarian Cancer 1 |
|
|
| Breast-Ovarian Cancer, Familial 1 |
|
|
| Breast Cancer |
|
|
| Lissencephaly |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Microcephaly |
|
|
| Premature Menopause |
|
|
| Pancreatic Cancer |
|
|
| Ovarian Cancer |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Ataxia-Telangiectasia |
|
|
| Werner Syndrome |
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Prostate Cancer |
|
|
| Diamond-Blackfan Anemia 11 |
|
|
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
|
| Lig4 Syndrome |
|
|
| Hepatocellular Carcinoma |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Lung Cancer |
|
|
| Cornelia De Lange Syndrome |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Immune Deficiency Disease |
|
|
| Telangiectasis |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Colorectal Cancer |
|
|
| Hereditary Ataxia |
|
|
| Seckel Syndrome |
|
|
| Pancytopenia |
|
|
| Cerebellar Disease |
|
|
| Medulloblastoma |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | NBN | VGNC | VGNC:97208 |
| Felis catus | NBN | VGNC | VGNC:68419 |
| Rattus norvegicus | NBN | RGD | RGD:621420 |
| Bos taurus | NBN | VGNC | VGNC:31895 |
| Mus musculus | NBN | MGD | MGI:1351625 |
| Macaca mulatta | NBN | VGNC | VGNC:75134 |
| Others | NBN | NCBI |