Nibrin

NBN
Identifiers
Aliases	NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95, nibrin
External IDs	OMIM: 602667; MGI: 1351625; HomoloGene: 1858; GeneCards: NBN; OMA:NBN - orthologs
Gene location (Human)
Chr.	Chromosome 8 (human)
End	90,003,228 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	15,992,589 bp
RNA expression pattern
	Top expressed in
	lactiferous duct; ; tail of epididymis; ; trigeminal ganglion; ; germinal epithelium; ; parietal pleura; ; decidua; ; superior surface of tongue; ; Achilles tendon; ; palpebral conjunctiva; ; bone marrow;
	Top expressed in
	saccule; ; otic placode; ; otic vesicle; ; intercostal muscle; ; genital tubercle; ; tail of embryo; ; epiblast; ; primitive streak; ; medial head of gastrocnemius muscle; ; somite;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein N-terminus binding; DNA helicase activity; transcription factor binding; protein binding; damaged DNA binding;
Cellular component	site of double-strand break; cytosol; PML body; replication fork; nucleoplasm; chromosome; telomere; nucleolus; nuclear inclusion body; nucleus; Mre11 complex;
Biological process	regulation of DNA-dependent DNA replication initiation; neuromuscular process controlling balance; mitotic cell cycle checkpoint signaling; positive regulation of kinase activity; telomeric 3' overhang formation; DNA damage checkpoint signaling; DNA damage response, signal transduction by p53 class mediator; in utero embryonic development; cellular response to DNA damage stimulus; intrinsic apoptotic signaling pathway; positive regulation of telomere maintenance; negative regulation of telomere capping; DNA duplex unwinding; meiosis; positive regulation of protein autophosphorylation; isotype switching; cell cycle; blastocyst growth; cell population proliferation; mitotic G2 DNA damage checkpoint signaling; double-strand break repair via nonhomologous end joining; telomere maintenance; double-strand break repair via homologous recombination; DNA synthesis involved in DNA repair; DNA repair; regulation of signal transduction by p53 class mediator; strand displacement; DNA replication; double-strand break repair; DNA double-strand break processing; t-circle formation; telomere maintenance via telomere trimming; telomere capping; signal transduction in response to DNA damage;
	Sources:Amigo / QuickGO
Orthologs
	4683
	27354
	ENSG00000104320
	ENSMUSG00000028224
	O60934
	Q9R207
	NM_001024688; NM_002485
	NM_013752
	NP_001019859; NP_002476
	NP_038780
	Wikidata
View/Edit Human	View/Edit Mouse

Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104320 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028224 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Nibrin".
^ Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A (May 1998). "Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome". Cell. 93 (3): 467–76. doi:10.1016/S0092-8674(00)81174-5. PMID 9590180.
^ Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR, Hays L, Morgan WF, Petrini JH (May 1998). "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response". Cell. 93 (3): 477–86. doi:10.1016/S0092-8674(00)81175-7. PMID 9590181.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104320 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028224 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Nibrin".

[pmid9590180-6] Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanová E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P, Reis A (May 1998). "Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome". Cell. 93 (3): 467–76. doi:10.1016/S0092-8674(00)81174-5. PMID 9590180.

[pmid9590181-7] Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR, Hays L, Morgan WF, Petrini JH (May 1998). "The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response". Cell. 93 (3): 477–86. doi:10.1016/S0092-8674(00)81175-7. PMID 9590181.

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