Gene
nbn
- ID
- ZDB-GENE-041008-35
- Name
- nibrin
- Symbol
- nbn Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including damaged DNA binding activity; phosphorylation-dependent protein binding activity; and protein serine/threonine kinase activator activity. Predicted to be involved in several processes, including DNA metabolic process; R-loop processing; and mitotic G2 DNA damage checkpoint signaling. Predicted to act upstream of or within double-strand break repair; meiotic cell cycle; and telomere maintenance. Predicted to be located in PML body and chromosome. Predicted to be part of Mre11 complex. Predicted to be active in chromosome, telomeric region and site of double-strand break. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911679 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acute lymphoblastic leukemia | Alliance | Leukemia, acute lymphoblastic | 613065 |
| aplastic anemia | Alliance | Aplastic anemia | 609135 |
| Nijmegen breakage syndrome | Alliance | Nijmegen breakage syndrome | 251260 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | BRCT domain | BRCT domain superfamily | Forkhead-associated (FHA) domain | Nibrin | Nibrin, C-terminal | Nibrin-related | Nibrin, second BRCT domain | Nibrin, second BRCT domain superfamily | SMAD/FHA domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5I2W8 | InterPro | 818 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-7F3 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6911679 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:194152 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001014819 (1) | 2457 nt | ||
| Genomic | GenBank:BX004983 (1) | 234489 nt | ||
| Polypeptide | UniProtKB:Q5I2W8 (1) | 818 aa |
- Xie, H., Kang, Y., Wang, S., Zheng, P., Chen, Z., Roy, S., Zhao, C. (2020) E2f5 is a versatile transcriptional activator required for spermatogenesis and multiciliated cell differentiation in zebrafish. PLoS Genetics. 16:e1008655
- Komoike, Y., Matsuoka, M. (2018) In vitro and in vivo studies of oxidative stress responses against acrylamide toxicity in zebrafish. Journal of hazardous materials. 365:430-439
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Nguyen, A.T., Emelyanov, A., Koh, C.H., Spitsbergen, J.M., Lam, S.H., Mathavan, S., Parinov, S., and Gong, Z. (2011) A high level of liver-specific expression of oncogenic KrasV12 drives robust liver tumorigenesis in transgenic zebrafish. Disease models & mechanisms. 4(6):801-13
- Sandrini, J.Z., Bianchini, A., Trindade, G.S., Nery, L.E., and Marins, L.F. (2009) Reactive oxygen species generation and expression of DNA repair-related genes after copper exposure in zebrafish (Danio rerio) ZFL cells. Aquatic toxicology (Amsterdam, Netherlands). 95(4):285-291
- Sandrini, J.Z., Trindade, G.S., Nery, L.E., and Marins, L.F. (2009) Time-course Expression of DNA Repair-related Genes in Hepatocytes of Zebrafish (Danio rerio) After UV-B Exposure. Photochemistry and photobiology. 85(1):220-226
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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