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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 29-APR-2013
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)450..656
Misc Feature(6)order(486..488,498..500,507..509,516..518,522..524)
Misc Feature(7)order(636..638,648..650)
Misc Feature(8)942..944
Misc Feature(9)942..944
Misc Feature(10)1137..1139
Misc Feature(11)1137..1139
Misc Feature(12)1299..1301
Misc Feature(13)1299..1301
Misc Feature(14)1314..1316
Misc Feature(15)1395..1397
Misc Feature(16)1404..1406
Misc Feature(17)1404..1406
Misc Feature(18)1422..1424
Misc Feature(19)1491..1511
Misc Feature(20)1953..1955
Misc Feature(21)2154..2348
Misc Feature(22)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
complement(38)-dbSNP:
complement(38)-t, gdbSNP:72563786
complement(63)-g, adbSNP:202115031
complement(85)-t, cdbSNP:201392451
complement(109)-g, adbSNP:202104448
complement(110)-c, adbSNP:199893749
complement(212)-dbSNP:
complement(212)-t, cdbSNP:1063045
complement(215)-c, adbSNP:78870221
complement(237)-g, adbSNP:200287925
complement(354)-dbSNP:
complement(354)-g, adbSNP:193921030
complement(388)-t, cdbSNP:12721593
complement(393)-t, cdbSNP:61753720
complement(412)-g, adbSNP:185493105
complement(425)-t, adbSNP:13312858
complement(426)-, atdbSNP:66821811
complement(491)-dbSNP:
complement(491)-t, cdbSNP:61754795
complement(500)-t, cdbSNP:146150499
complement(508)-g, adbSNP:111244949
complement(535)-t, cdbSNP:769414
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(659)-t, adbSNP:149261744
complement(663)-g, cdbSNP:1805794
complement(738)-dbSNP:
complement(738)-t, gdbSNP:61754796
complement(753)-t, cdbSNP:34767364
complement(754)-t, cdbSNP:61753718
complement(756)-t, gdbSNP:769416
complement(781)-t, cdbSNP:199845467
complement(868)-dbSNP:
complement(868)-g, adbSNP:61754967
complement(885)-t, cdbSNP:201559159
complement(898)-g, adbSNP:147626427
complement(904)-g, adbSNP:61612852
complement(907)-g, adbSNP:769420
complement(914)-t, cdbSNP:141443872
complement(929)-t, adbSNP:147660518
complement(1040)-dbSNP:
complement(1040)-t, adbSNP:142813526
complement(1046)-t, cdbSNP:148517156
complement(1049)-t, cdbSNP:145750430
complement(1086)-t, cdbSNP:121908973
complement(1145)-dbSNP:
complement(1145)-g, adbSNP:146605798
complement(1146)-t, cdbSNP:200297914
complement(1199)-t, c, adbSNP:121908974
complement(1282)-dbSNP:
complement(1282)-t, cdbSNP:201958895
complement(1297)-g, adbSNP:182030463
complement(1304)-t, gdbSNP:200046373
complement(1307)-g, adbSNP:709816
complement(1308)-t, cdbSNP:146123681
complement(1312)-g, cdbSNP:104895033
complement(1314)-t, cdbSNP:201373377
complement(1332)-g, adbSNP:34120922
complement(1372)-t, cdbSNP:104895032
complement(1427)-t, cdbSNP:28538230
complement(1453)-t, adbSNP:146403088
complement(1464)-t, gdbSNP:141137543
complement(1498..1499)-, tgdbSNP:72413837
complement(1515)-dbSNP:
complement(1515)-c, adbSNP:148205441
complement(1564)-g, adbSNP:200891292
complement(1575)-g, cdbSNP:143948240
complement(1599)-t, cdbSNP:3026268
complement(1665)-c, adbSNP:111239312
complement(1689)-t, gdbSNP:104895031
complement(1800)-g, adbSNP:72550742
complement(1830)-t, adbSNP:142334798
complement(1887)-g, cdbSNP:146989944
complement(1917)-c, adbSNP:112524180
complement(1919)-t, gdbSNP:192236678
complement(1992)-dbSNP:
complement(1992)-t, cdbSNP:115321485
complement(2022)-g, adbSNP:199657566
complement(2089)-dbSNP:
complement(2089)-g, cdbSNP:201781110
complement(2112)-t, cdbSNP:138913151
complement(2117)-g, adbSNP:200399787
complement(2125)-t, cdbSNP:6413508
complement(2126)-g, adbSNP:1061302
complement(2127)-c, adbSNP:202198205
complement(2148)-t, cdbSNP:200564603
complement(2170)-t, gdbSNP:186371605
complement(2192)-dbSNP:
complement(2192)-c, adbSNP:7823648
complement(2256)-g, adbSNP:72563785
complement(2312)-dbSNP:
complement(2312)-t, cdbSNP:200452212
complement(2330)-g, adbSNP:147494981
complement(2467)-t, cdbSNP:13312975
complement(2648)-g, adbSNP:1063053
complement(2691)-g, adbSNP:13312976
complement(2725)-t, cdbSNP:13312977
complement(2727)-g, cdbSNP:13312978
complement(2776)-g, cdbSNP:104895030
complement(2794)-t, cdbSNP:13312979
complement(2864)-t, cdbSNP:13312980
complement(2879)-g, adbSNP:3780123
complement(2895)-c, adbSNP:143335332
complement(2916)-g, cdbSNP:2735383
complement(3061)-g, adbSNP:72561474
complement(3089)-t, cdbSNP:186378464
complement(3132)-g, adbSNP:13312981
complement(3165)-c, adbSNP:11987887
complement(3178)-g, adbSNP:13312982
complement(3312)-g, adbSNP:11987865
complement(3358)-g, adbSNP:13312983
complement(3362)-c, adbSNP:78935210
complement(3388)-g, adbSNP:13312984
complement(3407)-g, cdbSNP:148398077
complement(3576)-t, cdbSNP:116491182
complement(3584)-c, adbSNP:1063054
complement(3597)-c, adbSNP:13312985
complement(3739)-t, cdbSNP:150060153
complement(3958)-t, cdbSNP:139384734
complement(4067)-g, adbSNP:13312986
complement(4129)-t, cdbSNP:9995
complement(4229)-t, gdbSNP:180734807
complement(4234)-c, adbSNP:3087624
complement(4336)-t, cdbSNP:13312987
complement(4352)-t, cdbSNP:14448
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
Title An inherited NBN mutation is associated with poor prognosis prostate cancer .
Author Cybulski,C., Wokolorczyk,D., Kluzniak,W., Jakubowska,A., Gorski,B., Gronwald,J., Huzarski,T., Kashyap,A., Byrski,T., Debniak,T., Golab,A., Gliniewicz,B., Sikorski,A., Switala,J., Borkowski,T., Borkowski,A., Antczak,A., Wojnar,L., Przybyla,J., Sosnowski,M., Malkiewicz,B., Zdrojowy,R., Sikorska-Radek,P., Matych,J., Wilkosz,J., Rozanski,W., Kis,J., Bar,K., Bryniarski,P., Paradysz,A., Jersak,K., Niemirowicz,J., Slupski,P., Jarzemski,P., Skrzypczyk,M., Dobruch,J., Domagala,P., Narod,S.A. and Lubinski,J.
Journal Br. J. Cancer 108 (2), 461-468 (2013)
Title The RING finger protein RNF8 ubiquitinates Nbs1 to promote DNA double-strand break repair by homologous recombination .
Author Lu,C.S., Truong,L.N., Aslanian,A., Shi,L.Z., Li,Y., Hwang,P.Y., Koh,K.H., Hunter,T., Yates,J.R. III, Berns,M.W. and Wu,X.
Journal J. Biol. Chem. 287 (52), 43984-43994 (2012)
Title Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer .
Author Zuhlke,K.A., Johnson,A.M., Okoth,L.A., Stoffel,E.M., Robbins,C.M., Tembe,W.A., Salinas,C.A., Zheng,S.L., Xu,J., Carpten,J.D., Lange,E.M., Isaacs,W.B. and Cooney,K.A.
Journal Fam. Cancer 11 (4), 595-600 (2012)
Title Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation .
Author Mendez,G., Cilli,D., Berardinelli,F., Viganotti,M., Ascenzi,P., Tanzarella,C., Antoccia,A. and di Masi,A.
Journal IUBMB Life 64 (10), 853-861 (2012)
Title Chemical genetics reveals a specific requirement for Cdk2 activity in the DNA damage response and identifies Nbs1 as a Cdk2 substrate in human cells .
Author Wohlbold,L., Merrick,K.A., De,S., Amat,R., Kim,J.H., Larochelle,S., Allen,J.J., Zhang,C., Shokat,K.M., Petrini,J.H. and Fisher,R.P.
Journal PLoS Genet. 8 (8), E1002935 (2012)
Title Positional cloning of the gene for Nijmegen breakage syndrome .
Author Matsuura,S., Tauchi,H., Nakamura,A., Kondo,N., Sakamoto,S., Endo,S., Smeets,D., Solder,B., Belohradsky,B.H., Der Kaloustian,V.M., Oshimura,M., Isomura,M., Nakamura,Y. and Komatsu,K.
Journal Nat. Genet. 19 (2), 179-181 (1998)
Title The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response .
Author Carney,J.P., Maser,R.S., Olivares,H., Davis,E.M., Le Beau,M., Yates,J.R. III, Hays,L., Morgan,W.F. and Petrini,J.H.
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,K.M., Chrzanowska,K.H., Saar,K., Beckmann,G., Seemanova,E., Cooper,P.R., Nowak,N.J., Stumm,M., Weemaes,C.M., Gatti,R.A., Wilson,R.K., 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,K.H., Stumm,M., Jung,M., Nurnberg,G., Wienker,T.F., Seemanova,E., Wegner,R.D., Reis,A. and Sperling,K.
Journal Am. J. Hum. Genet. 60 (3), 605-610 (1997)


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