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2024-04-20 14:12:34, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002485 4639 bp mRNA linear PRI 15-JUL-2013
DEFINITION Homo sapiens nibrin (NBN), mRNA.
ACCESSION NM_002485
VERSION NM_002485.4 GI:67189763
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4639)
AUTHORS Lee,J.H., Mand,M.R., Deshpande,R.A., Kinoshita,E., Yang,S.H.,
Wyman,C. and Paull,T.T.
TITLE Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by
ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN)
complex
JOURNAL J. Biol. Chem. 288 (18), 12840-12851 (2013)
PUBMED 23525106
REMARK GeneRIF: Ataxia telangiectasia-mutated (ATM) kinase activity is
regulated by ATP-driven conformational changes in the
Mre11/Rad50/Nbs1 (MRN) complex.
REFERENCE 2 (bases 1 to 4639)
AUTHORS Salewsky,B., Wessendorf,P., Hirsch,D., Krenzlin,H. and Digweed,M.
TITLE Nijmegen breakage syndrome: the clearance pathway for mutant nibrin
protein is allele specific
JOURNAL Gene 519 (2), 217-221 (2013)
PUBMED 23458873
REMARK GeneRIF: Truncated nibrin and misfolded nibrin have different
clearance pathways. p70-nibrin is degraded by the proteasome with
varying efficiency in cell lines from different NBS patients.
REFERENCE 3 (bases 1 to 4639)
AUTHORS Yao,F., Fang,Y., Chen,B., Jin,F. and Wang,S.
TITLE Association between the NBS1 Glu185Gln polymorphism and breast
cancer risk: a meta-analysis
JOURNAL Tumour Biol. 34 (2), 1255-1262 (2013)
PUBMED 23381647
REMARK GeneRIF: NBS1 Glu185Gln polymorphism is not associated with breast
cancer risk.
REFERENCE 4 (bases 1 to 4639)
AUTHORS Wang,H., Shi,L.Z., Wong,C.C., Han,X., Hwang,P.Y., Truong,L.N.,
Zhu,Q., Shao,Z., Chen,D.J., Berns,M.W., Yates,J.R. III, Chen,L. and
Wu,X.
TITLE The interaction of CtIP and Nbs1 connects CDK and ATM to regulate
HR-mediated double-strand break repair
JOURNAL PLoS Genet. 9 (2), E1003277 (2013)
PUBMED 23468639
REMARK GeneRIF: These studies reveal one important mechanism to regulate
cell-cycle-dependent activation of HR upon DNA damage by coupling
CDK- and ATM-mediated phosphorylation of CtIP through modulating
the interaction of CtIP with Nbs1
REFERENCE 5 (bases 1 to 4639)
AUTHORS Zhang,Z.H., Yang,L.S., Huang,F., Hao,J.H., Su,P.Y. and Sun,Y.H.
TITLE Current evidence on the relationship between two polymorphisms in
the NBS1 gene and breast cancer risk: a meta-analysis
JOURNAL Asian Pac. J. Cancer Prev. 13 (11), 5375-5379 (2012)
PUBMED 23317186
REMARK GeneRIF: 657del5 mutation in the NBS1 gene is associated with
breast cancer.
REFERENCE 6 (bases 1 to 4639)
AUTHORS 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.
TITLE Positional cloning of the gene for Nijmegen breakage syndrome
JOURNAL Nat. Genet. 19 (2), 179-181 (1998)
PUBMED 9620777
REFERENCE 7 (bases 1 to 4639)
AUTHORS 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.
TITLE The hMre11/hRad50 protein complex and Nijmegen breakage syndrome:
linkage of double-strand break repair to the cellular DNA damage
response
JOURNAL Cell 93 (3), 477-486 (1998)
PUBMED 9590181
REFERENCE 8 (bases 1 to 4639)
AUTHORS 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.
TITLE Nibrin, a novel DNA double-strand break repair protein, is mutated
in Nijmegen breakage syndrome
JOURNAL Cell 93 (3), 467-476 (1998)
PUBMED 9590180
REFERENCE 9 (bases 1 to 4639)
AUTHORS 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.
TITLE Genetic mapping using microcell-mediated chromosome transfer
suggests a locus for Nijmegen breakage syndrome at chromosome
8q21-24
JOURNAL Am. J. Hum. Genet. 60 (6), 1487-1494 (1997)
PUBMED 9199571
REFERENCE 10 (bases 1 to 4639)
AUTHORS Saar,K., Chrzanowska,K.H., Stumm,M., Jung,M., Nurnberg,G.,
Wienker,T.F., Seemanova,E., Wegner,R.D., Reis,A. and Sperling,K.
TITLE The gene for the ataxia-telangiectasia variant, Nijmegen breakage
syndrome, maps to a 1-cM interval on chromosome 8q21
JOURNAL Am. J. Hum. Genet. 60 (3), 605-610 (1997)
PUBMED 9042920
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BX640816.1, BC071590.1 and
BC040519.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 9, 2005 this sequence version replaced gi:33356171.
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].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC146797.1, AF051334.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-4 BX640816.1 1-4
5-1506 BC071590.1 1-1502
1507-1622 BC040519.1 1555-1670
1623-4453 BC071590.1 1620-4450
4454-4639 BX640816.1 4505-4690
FEATURES Location/Qualifiers
source 1..4639
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q21"
gene 1..4639
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="nibrin"
/db_xref="GeneID:4683"
/db_xref="HGNC:7652"
/db_xref="MIM:602667"
exon 1..147
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 38
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="g"
/replace="t"
/db_xref="dbSNP:72563786"
misc_feature 96..98
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="upstream in-frame stop codon"
CDS 111..2375
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="Nijmegen breakage syndrome 1 (nibrin); p95 protein
of the MRE11/RAD50 complex; cell cycle regulatory protein
p95"
/codon_start=1
/product="nibrin"
/protein_id="NP_002476.2"
/db_xref="GI:33356172"
/db_xref="CCDS:CCDS6249.1"
/db_xref="GeneID:4683"
/db_xref="HGNC:7652"
/db_xref="MIM:602667"
/translation="
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR
"
misc_feature 111..437
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="Forkhead associated domain (FHA); found in
eukaryotic and prokaryotic proteins. Putative nuclear
signalling domain. FHA domains may bind phosphothreonine,
phosphoserine and sometimes phosphotyrosine. In
eukaryotes, many FHA domain-containing proteins...;
Region: FHA; cd00060"
/db_xref="CDD:28942"
misc_feature order(192..194,228..230,234..239,327..335)
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="phosphopeptide binding site; other site"
/db_xref="CDD:28942"
misc_feature 441..1094
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60934.1);
Region: Mediates interaction with SP100 (By similarity)"
misc_feature 450..656
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="Breast Cancer Suppressor Protein (BRCA1),
carboxy-terminal domain. The BRCT domain is found within
many DNA damage repair and cell cycle checkpoint proteins.
The unique diversity of this domain superfamily allows
BRCT modules to interact forming homo...; Region: BRCT;
cd00027"
/db_xref="CDD:28909"
misc_feature order(486..488,498..500,507..509,516..518,522..524)
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="Dimer interface [polypeptide binding]; other site"
/db_xref="CDD:28909"
misc_feature order(636..638,648..650)
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="BRCT sequence motif; other site"
/db_xref="CDD:28909"
misc_feature 942..944
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by ATM; propagated from
UniProtKB/Swiss-Prot (O60934.1); phosphorylation site"
misc_feature 942..944
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:06347"
misc_feature 1137..1139
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine, by ATM; propagated from
UniProtKB/Swiss-Prot (O60934.1); phosphorylation site"
misc_feature 1137..1139
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:06347"
misc_feature 1299..1301
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O60934.1); phosphorylation site"
misc_feature 1299..1301
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:06347"
misc_feature 1314..1316
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (O60934.1); phosphorylation site"
misc_feature 1395..1397
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1404..1406
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O60934.1); phosphorylation site"
misc_feature 1404..1406
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1422..1424
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O60934.1); phosphorylation site"
misc_feature 1491..1511
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60934.1);
Region: Nuclear localization signal"
misc_feature 1953..1955
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(O60934.1); phosphorylation site"
misc_feature 2154..2348
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/note="DNA damage repair protein Nbs1; Region: Nbs1_C;
pfam08599"
/db_xref="CDD:149597"
misc_feature 2316..2339
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O60934.1);
Region: EEXXXDDL motif"
exon 148..281
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 282..430
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 388
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:12721593"
variation 425
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="t"
/db_xref="dbSNP:13312858"
exon 431..590
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 591..694
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 695..812
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 813..1006
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 1007..1104
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 1105..1234
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 1235..1507
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 1332
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:34120922"
exon 1508..1955
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 1800
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:72550742"
exon 1956..2024
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 2025..2180
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 2125
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:6413508"
variation 2126
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:1061302"
exon 2181..2294
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
variation 2256
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:72563785"
exon 2295..2344
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
exon 2345..4621
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/inference="alignment:Splign:1.39.8"
STS 2379..2497
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/standard_name="SHGC-36208"
/db_xref="UniSTS:81274"
variation 2467
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:13312975"
variation 2648
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:1063053"
variation 2691
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312976"
variation 2725
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:13312977"
variation 2727
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="g"
/db_xref="dbSNP:13312978"
variation 2794
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:13312979"
variation 2864
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:13312980"
variation 2879
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:3780123"
variation 3061
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:72561474"
variation 3132
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312981"
variation 3178
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312982"
variation 3358
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312983"
variation 3388
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312984"
variation 3584
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="c"
/db_xref="dbSNP:1063054"
variation 3597
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="c"
/db_xref="dbSNP:13312985"
variation 4067
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="a"
/replace="g"
/db_xref="dbSNP:13312986"
variation 4129
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:9995"
STS 4319..4431
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/standard_name="A004N06"
/db_xref="UniSTS:70457"
variation 4336
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:13312987"
variation 4352
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/replace="c"
/replace="t"
/db_xref="dbSNP:14448"
polyA_signal 4431..4436
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
polyA_site 4459
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
polyA_site 4473
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
/experiment="experimental evidence, no additional details
recorded"
polyA_signal 4603..4608
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
polyA_site 4625
/gene="NBN"
/gene_synonym="AT-V1; AT-V2; ATV; NBS; NBS1; P95"
ORIGIN
gagcgcgcacgtcccggagcccatgccgaccgcaggcgccgtatccgcgctcgtctagcagccccggttacgcggttgcacgtcggccccagccctgaggagccggaccgatgtggaaactgctgcccgccgcgggcccggcaggaggagaaccatacagacttttgactggcgttgagtacgttgttggaaggaaaaactgtgccattctgattgaaaatgatcagtcgatcagccgaaatcatgctgtgttaactgctaacttttctgtaaccaacctgagtcaaacagatgaaatccctgtattgacattaaaagataattctaagtatggtacctttgttaatgaggaaaaaatgcagaatggcttttcccgaactttgaagtcgggggatggtattacttttggagtgtttggaagtaaattcagaatagagtatgagcctttggttgcatgctcttcttgtttagatgtctctgggaaaactgctttaaatcaagctatattgcaacttggaggatttactgtaaacaattggacagaagaatgcactcaccttgtcatggtatcagtgaaagttaccattaaaacaatatgtgcactcatttgtggacgtccaattgtaaagccagaatattttactgaattcctgaaagcagttgagtccaagaagcagcctccacaaattgaaagtttttacccacctcttgatgaaccatctattggaagtaaaaatgttgatctgtcaggacggcaggaaagaaaacaaatcttcaaagggaaaacatttatatttttgaatgccaaacagcataagaaattgagttccgcagttgtctttggaggtggggaagctaggttgataacagaagagaatgaagaagaacataatttctttttggctccgggaacgtgtgttgttgatacaggaataacaaactcacagaccttaattcctgactgtcagaagaaatggattcagtcaataatggatatgctccaaaggcaaggtcttagacctattcctgaagcagaaattggattggcggtgattttcatgactacaaagaattactgtgatcctcagggccatcccagtacaggattaaagacaacaactccaggaccaagcctttcacaaggcgtgtcagttgatgaaaaactaatgccaagcgccccagtgaacactacaacatacgtagctgacacagaatcagagcaagcagatacatgggatttgagtgaaaggccaaaagaaatcaaagtctccaaaatggaacaaaaattcagaatgctttcacaagatgcacccactgtaaaggagtcctgcaaaacaagctctaataataatagtatggtatcaaatactttggctaagatgagaatcccaaactatcagctttcaccaactaaattgccaagtataaataaaagtaaagatagggcttctcagcagcagcagaccaactccatcagaaactactttcagccgtctaccaaaaaaagggaaagggatgaagaaaatcaagaaatgtcttcatgcaaatcagcaagaatagaaacgtcttgttctcttttagaacaaacacaacctgctacaccctcattgtggaaaaataaggagcagcatctatctgagaatgagcctgtggacacaaactcagacaataacttatttacagatacagatttaaaatctattgtgaaaaattctgccagtaaatctcatgctgcagaaaagctaagatcaaataaaaaaagggaaatggatgatgtggccatagaagatgaagtattggaacagttattcaaggacacaaaaccagagttagaaattgatgtgaaagttcaaaaacaggaggaagatgtcaatgttagaaaaaggccaaggatggatatagaaacaaatgacactttcagtgatgaagcagtaccagaaagtagcaaaatatctcaagaaaatgaaattgggaagaaacgtgaactcaaggaagactcactatggtcagctaaagaaatatctaacaatgacaaacttcaggatgatagtgagatgcttccaaaaaagctgttattgactgaatttagatcactggtgattaaaaactctacttccagaaatccatctggcataaatgatgattatggtcaactaaaaaatttcaagaaattcaaaaaggtcacatatcctggagcaggaaaacttccacacatcattggaggatcagatctaatagctcatcatgctcgaaagaatacagaactagaagagtggctaaggcaggaaatggaggtacaaaatcaacatgcaaaagaagagtctcttgctgatgatctttttagatacaatccttatttaaaaaggagaagataactgaggattttaaaaagaagccatggaaaaacttcctagtaagcatctacttcaggccaacaaggttatatgaatatatagtgtatagaagcgatttaagttacaatgttttatggcctaaatttattaaataaaatgcacaaaactttgattcttttgtatgtaacaattgtttgttctgttttcaggctttgtcattgcatctttttttcatttttaaatgtgttttgtttattaaatagttaatatagtcacagttcaaaattctaaatgtacgtaaggtaaagactaaagtcacccttccaccattgtcctagctacttggttcccctcagaaaaaaattcatgatactcatttcttatgaatctttccagggatttttgagtcctattcaaattcctatttttaaataatttcctacacaaatgatagcataacatatgcagtgttctacaccttgcttttttacttagtagattaaaaattataggaatatcaatataatgtttttaatattttttcttttccattatgctgtagtcttacctaaactctggtgatccaaacaaaatggcttcagtggtgcagatgtcacctacatgttattctagtactagaaactgaagaccatgtggagacttcatcaaacatgggtttagttttcaccagaatggaaagacctgtacccctttttggtggtcttactgagctgggtgggtgtctgttttgagcttatttagagtcctagttttcctacttataaagtagaaatggtgagattgttttctttttctaccttaaagggagatggtaagaaacaatgaatgtcttttttcaaactttattgacaagtgattttcaagtctgtgttcaaaaatatattcatgtacctgtgatccagcaagaagggagttccagtcaagagtcactacaactgattagttgtttagagaatgagaaatggaacagtgaggaatggaggccatatttccatgacttcccttgtaaacagaagcaacagaagggacaagaggctggcctctacatcactctcaccttccaaatcttgtggaagtgcatctacttgccagaaccaaattaacttacttccaagttctggctgcttgcaggtggaactccagctgcaagggagttagggaaatgaaggtctttttttaaaagcttctcagccttcctagggaacagaaattgggtgagccaatctgcaatttctactacaggcattgagaccagttagattattgaaatattatagagagttatgaacacttaaattatgatagtggtatgacattggatagaacatgggatactttagaagtagaattgacagggcatattagttgatgaaatggagtcatttgagtctcttaatagccatgtatcataattaccaagtgaagctggtggaacatatggtctccattttacagttaaggaatataatggacagattaatattgttctctgtcatgcccacaatccctttctaaggaagactgccctactatagcagtttttatatttgtcaatttatgaatataatgaatgagagttctggtacctcctgtctttacaaatattggtgttgtcagtatttttcctttttaaccattccaatcggtgtgtagtgatgtttcattttggttttaatttgtatatccctgatagctataattgggtcatagaaattctttatacattctagatgcaagtctcttgtcggatatatgtattgagatattacacctagtctgtggcttgactgttttctttatgtcttttgatgaatagaagttttaaattttgacaaggtcaaatttatttttttcttttgtttgatattttttctctccaatttaaccccaagatttcagatattctgctctattatataaactttatatttttatatttgtgatctaccttgaattgatatgtatgttgtgaattatggatcagggttctttttttcccccatacaagtatccagtcattgtaacactgtttattgaaagaattatcctttcctcattaaattaccttgccaattagtaaaaaatcaattaaccataatggtggatctgtttctggactttctgtttggttacactgaaatgtttgtccatccttgcactcactcataccatactgccttgaattactgtagctgcatagatgctccttaagttgggattacattgtaataaacgcaatgtaagttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4683 -> Molecular function: GO:0003684 [damaged DNA binding] evidence: IC
GeneID:4683 -> Molecular function: GO:0004003 [ATP-dependent DNA helicase activity] evidence: IMP
GeneID:4683 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:4683 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IPI
GeneID:4683 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
GeneID:4683 -> Biological process: GO:0000077 [DNA damage checkpoint] evidence: IDA
GeneID:4683 -> Biological process: GO:0000723 [telomere maintenance] evidence: IMP
GeneID:4683 -> Biological process: GO:0000724 [double-strand break repair via homologous recombination] evidence: TAS
GeneID:4683 -> Biological process: GO:0001832 [blastocyst growth] evidence: IEA
GeneID:4683 -> Biological process: GO:0006281 [DNA repair] evidence: TAS
GeneID:4683 -> Biological process: GO:0006302 [double-strand break repair] evidence: IDA
GeneID:4683 -> Biological process: GO:0006302 [double-strand break repair] evidence: TAS
GeneID:4683 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:4683 -> Biological process: GO:0007050 [cell cycle arrest] evidence: TAS
GeneID:4683 -> Biological process: GO:0007093 [mitotic cell cycle checkpoint] evidence: IDA
GeneID:4683 -> Biological process: GO:0007095 [mitotic G2 DNA damage checkpoint] evidence: IDA
GeneID:4683 -> Biological process: GO:0007126 [meiosis] evidence: IEA
GeneID:4683 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA
GeneID:4683 -> Biological process: GO:0030174 [regulation of DNA-dependent DNA replication initiation] evidence: TAS
GeneID:4683 -> Biological process: GO:0030330 [DNA damage response, signal transduction by p53 class mediator] evidence: TAS
GeneID:4683 -> Biological process: GO:0031954 [positive regulation of protein autophosphorylation] evidence: IDA
GeneID:4683 -> Biological process: GO:0032508 [DNA duplex unwinding] evidence: IMP
GeneID:4683 -> Biological process: GO:0033674 [positive regulation of kinase activity] evidence: IDA
GeneID:4683 -> Biological process: GO:0045190 [isotype switching] evidence: IEA
GeneID:4683 -> Biological process: GO:0050885 [neuromuscular process controlling balance] evidence: IEA
GeneID:4683 -> Cellular component: GO:0000784 [nuclear chromosome, telomeric region] evidence: IDA
GeneID:4683 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4683 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:4683 -> Cellular component: GO:0005657 [replication fork] evidence: IEA
GeneID:4683 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:4683 -> Cellular component: GO:0016605 [PML body] evidence: IDA
GeneID:4683 -> Cellular component: GO:0030870 [Mre11 complex] evidence: IDA
GeneID:4683 -> Cellular component: GO:0042405 [nuclear inclusion body] evidence: IDA
by
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DBCLS
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