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Database:

Blast Method:

 
 


Homo sapiens nibrin (NBN), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002485 Homo sapiens nibrin (NBN), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_002485.4, 67189763
Length 4639 bp
Structure linear
Update Date 18-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens nibrin (NBN), mRNA.
Product nibrin
Comment

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].

RefSeq NP_002476.2
CDS 111..2375
Misc Feature(1)96..98
Misc Feature(2)111..437
Misc Feature(3)111..437
Misc Feature(4)order(192..194,228..230,234..239,327..335)
Misc Feature(5)441..1094
Misc Feature(6)450..656
Misc Feature(7)order(486..488,498..500,507..509,516..518,522..524)
Misc Feature(8)order(636..638,648..650)
Misc Feature(9)771..1316
Misc Feature(10)942..944
Misc Feature(11)942..944
Misc Feature(12)1137..1139
Misc Feature(13)1137..1139
Misc Feature(14)1299..1301
Misc Feature(15)1299..1301
Misc Feature(16)1314..1316
Misc Feature(17)1395..1397
Misc Feature(18)1404..1406
Misc Feature(19)1404..1406
Misc Feature(20)1491..1511
Misc Feature(21)1953..1955
Misc Feature(22)2154..2348
Misc Feature(23)2316..2339
Exon (1)1..147
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (2)148..281
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (3)282..430
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (4)431..590
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (5)591..694
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (6)695..812
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (7)813..1006
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (8)1007..1104
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (9)1105..1234
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (10)1235..1507
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (11)1508..1955
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (12)1956..2024
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (13)2025..2180
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (14)2181..2294
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (15)2295..2344
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Exon (16)2345..4621
Gene:NBN
Gene Synonym:AT-V1; AT-V2; ATV; NBS; NBS1; P95
Translation MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR
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Position Chain Variation Link
38+dbSNP:
38+g, tdbSNP:72563786
complement(63)-g, adbSNP:202115031
complement(85)-t, cdbSNP:201392451
complement(96)-t, adbSNP:376360566
complement(99)-t, cdbSNP:375584006
complement(109)-g, adbSNP:202104448
complement(110)-c, adbSNP:199893749
complement(131)-g, adbSNP:370050587
complement(174)-dbSNP:
complement(174)-t, cdbSNP:369910645
complement(212)-t, cdbSNP:1063045
complement(215)-c, adbSNP:78870221
complement(225)-t, gdbSNP:377730553
complement(237)-g, adbSNP:200287925
complement(300)-dbSNP:
complement(300)-g, adbSNP:267602038
354+a, gdbSNP:193921030
388+c, tdbSNP:12721593
complement(393)-t, cdbSNP:61753720
complement(412)-g, adbSNP:185493105
425+a, tdbSNP:13312858
complement(443)-dbSNP:
complement(443)-t, cdbSNP:376455714
complement(500)-t, cdbSNP:146150499
complement(503)-c, adbSNP:372061224
complement(508)-g, adbSNP:111244949
complement(535)-t, cdbSNP:769414
complement(535)-g, adbSNP:386612558
complement(536)-g, adbSNP:143070291
complement(551)-g, adbSNP:137857529
complement(566)-t, cdbSNP:201816949
complement(615)-dbSNP:
complement(615)-g, adbSNP:182756889
complement(621)-t, cdbSNP:61754966
complement(657)-c, adbSNP:151070415
complement(663)-g, cdbSNP:1805794
738+dbSNP:
738+g, tdbSNP:61754796
complement(743)-t, adbSNP:377700348
complement(754)-t, cdbSNP:61753718
complement(756)-t, gdbSNP:769416
complement(756)-c, adbSNP:386612559
complement(766)-t, cdbSNP:376951288
complement(773)-g, adbSNP:372705975
complement(781)-t, cdbSNP:199845467
complement(868)-dbSNP:
complement(868)-g, adbSNP:61754967
complement(885)-t, cdbSNP:201559159
complement(893)-c, adbSNP:375336614
complement(896)-t, gdbSNP:372159380
complement(898)-g, adbSNP:147626427
complement(904)-g, adbSNP:61612852
complement(907)-g, adbSNP:769420
complement(908)-t, cdbSNP:368786672
complement(914)-t, cdbSNP:141443872
complement(929)-t, adbSNP:147660518
complement(1040)-dbSNP:
complement(1040)-t, adbSNP:142813526
complement(1045)-g, adbSNP:371480039
complement(1046)-t, cdbSNP:148517156
complement(1049)-t, cdbSNP:145750430
1086+c, tdbSNP:121908973
complement(1145)-dbSNP:
complement(1145)-g, adbSNP:146605798
complement(1146)-t, cdbSNP:200297914
complement(1166)-t, cdbSNP:369092711
1199+a, c, tdbSNP:121908974
complement(1201)-g, adbSNP:370229163
complement(1282)-dbSNP:
complement(1282)-t, cdbSNP:201958895
complement(1297)-g, adbSNP:182030463
complement(1304)-t, gdbSNP:200046373
complement(1307)-g, adbSNP:709816
1312+c, gdbSNP:104895033
complement(1314)-t, cdbSNP:201373377
1332+a, gdbSNP:34120922
1372+c, tdbSNP:104895032
complement(1396)-t, cdbSNP:370121348
complement(1416)-g, adbSNP:375885975
complement(1427)-t, cdbSNP:28538230
complement(1453)-t, adbSNP:146403088
complement(1464)-t, gdbSNP:141137543
complement(1492)-g, adbSNP:367760321
complement(1515)-dbSNP:
complement(1515)-c, adbSNP:148205441
complement(1564)-g, adbSNP:200891292
complement(1575)-g, cdbSNP:143948240
complement(1599)-t, cdbSNP:3026268
complement(1599)-t, cdbSNP:386578751
complement(1656)-t, cdbSNP:376653589
complement(1665)-c, adbSNP:111239312
1689+g, tdbSNP:104895031
1800+a, gdbSNP:72550742
complement(1830)-t, adbSNP:142334798
complement(1887)-g, cdbSNP:146989944
complement(1917)-c, adbSNP:112524180
complement(1919)-t, gdbSNP:192236678
complement(1935)-t, gdbSNP:372012641
complement(1983)-dbSNP:
complement(1983)-t, cdbSNP:369049359
complement(1992)-t, cdbSNP:115321485
complement(1998)-g, adbSNP:377132067
complement(2021)-t, cdbSNP:372877871
complement(2022)-g, adbSNP:199657566
complement(2058)-dbSNP:
complement(2058)-g, adbSNP:368703936
complement(2089)-g, cdbSNP:201781110
complement(2110)-g, adbSNP:374638426
complement(2112)-t, cdbSNP:138913151
complement(2117)-g, adbSNP:200399787
complement(2125)-t, cdbSNP:386602584
2125+c, tdbSNP:6413508
2126+a, gdbSNP:1061302
complement(2126)-g, adbSNP:386514553
complement(2127)-c, adbSNP:202198205
complement(2146)-t, cdbSNP:370295427
complement(2148)-t, cdbSNP:200564603
complement(2170)-t, gdbSNP:186371605
complement(2192)-dbSNP:
complement(2192)-c, adbSNP:7823648
complement(2256)-g, adbSNP:72563785
complement(2301)-dbSNP:
complement(2301)-t, adbSNP:369649307
complement(2312)-t, cdbSNP:200452212
complement(2325)-g, cdbSNP:370058152
complement(2330)-g, adbSNP:147494981
complement(2435)-t, cdbSNP:370246957
complement(2440)-g, cdbSNP:371136272
2467+c, tdbSNP:13312975
2648+a, gdbSNP:1063053
complement(2648)-t, cdbSNP:386514616
complement(2691)-g, adbSNP:13312976
complement(2691)-g, adbSNP:386528069
2725+c, tdbSNP:13312977
2727+c, gdbSNP:13312978
2776+c, gdbSNP:104895030
complement(2794)-t, cdbSNP:13312979
complement(2864)-t, cdbSNP:13312980
2879+a, gdbSNP:3780123
complement(2895)-c, adbSNP:143335332
complement(2916)-g, cdbSNP:2735383
3061+a, gdbSNP:72561474
complement(3089)-t, cdbSNP:186378464
complement(3132)-g, adbSNP:13312981
complement(3165)-c, adbSNP:11987887
3178+a, gdbSNP:13312982
complement(3312)-g, adbSNP:11987865
complement(3312)-g, adbSNP:386522339
3358+a, gdbSNP:13312983
3362+a, cdbSNP:78935210
complement(3388)-g, adbSNP:13312984
3407+c, gdbSNP:148398077
complement(3576)-t, cdbSNP:116491182
complement(3580)-g, adbSNP:373449852
3584+a, cdbSNP:1063054
3597+a, cdbSNP:13312985
complement(3739)-t, cdbSNP:150060153
complement(3958)-t, cdbSNP:139384734
4067+a, gdbSNP:13312986
complement(4067)-t, cdbSNP:386528070
4129+c, tdbSNP:9995
complement(4129)-g, adbSNP:386626496
complement(4229)-t, gdbSNP:180734807
complement(4234)-c, adbSNP:3087624
complement(4336)-t, cdbSNP:13312987
4352+c, tdbSNP:14448
complement(4352)-g, adbSNP:386532161
complement(4504)-c, adbSNP:117807915
complement(4563)-g, adbSNP:190894937
complement(4582..4584)-, aagdbSNP:147020347
complement(4587)-t, cdbSNP:10464867
Gene SymbolNBN
Gene SynonymAT-V1; AT-V2; ATV; NBS; NBS1; P95
Chromosome8
Locus Map8q21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_002485 Homo sapiens nibrin (NBN), mRNA. On-demand $849.00 20
XM_005250923 PREDICTED: Homo sapiens nibrin (NBN), transcript variant X1, mRNA. On-demand $849.00 20
Title p95-HER2 and trastuzumab resistance in metastatic breast cancer; is immunohistochemistry appropriate? .
Author Kocar M, Bozkurtlar E, Telli F, Yumuk F, Kaya H, Kocar H and Serdar Turhal N.
Journal J BUON 19 (1), 245-249 (2014)
Title NBS1 Glu185Gln polymorphism and cancer risk: update on current evidence .
Author He YZ, Chi XS, Zhang YC, Deng XB, Wang JR, Lv WY, Zhou YH and Wang ZQ.
Journal Tumour Biol. 35 (1), 675-687 (2014)
Title DNA-dependent protein kinase regulates DNA end resection in concert with Mre11-Rad50-Nbs1 (MRN) and ataxia telangiectasia-mutated (ATM) .
Author Zhou Y and Paull TT.
Journal J. Biol. Chem. 288 (52), 37112-37125 (2013)
Title Increased expression of phosphorylated NBS1, a key molecule of the .
Author Kefala M, Papageorgiou SG, Kontos CK, Economopoulou P, Tsanas A, Pappa V, Panayiotides IG, Gorgoulis VG, Patsouris E and Foukas PG.
Journal Leuk. Res. 37 (11), 1576-1582 (2013)
Title Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk .
Author Zhang G, Zeng Y, Liu Z and Wei W.
Journal Tumour Biol. 34 (5), 2753-2757 (2013)
Title The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response .
Author Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR 3rd, Hays L, Morgan WF and Petrini JH.
Journal Cell 93 (3), 477-486 (1998)
Title Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome .
Author Varon R, Vissinga C, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, Beckmann G, Seemanova E, Cooper PR, Nowak NJ, Stumm M, Weemaes CM, Gatti RA, Wilson RK, Digweed M, Rosenthal A, Sperling K, Concannon P and Reis A.
Journal Cell 93 (3), 467-476 (1998)
Title Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24 .
Author Matsuura S, Weemaes C, Smeets D, Takami H, Kondo N, Sakamoto S, Yano N, Nakamura A, Tauchi H, Endo S, Oshimura M and Komatsu K.
Journal Am. J. Hum. Genet. 60 (6), 1487-1494 (1997)
Title The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21 .
Author Saar K, Chrzanowska KH, Stumm M, Jung M, Nurnberg G, Wienker TF, Seemanova E, Wegner RD, Reis A and Sperling K.
Journal Am. J. Hum. Genet. 60 (3), 605-610 (1997)
Title Nijmegen Breakage Syndrome .
Author Varon,R., Demuth,I. and Digweed,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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