KEGG   Homo sapiens (human): 4683Help
Entry
4683              CDS       T01001                                 

Gene name
NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95
Definition
nibrin
Orthology
K10867  
nijmegen breakage syndrome protein 1
Organism
hsa  Homo sapiens (human)
Pathway
Homologous recombination
Module
MRN complex
BRCA1-associated genome surveillance complex (BASC)
Disease
H00094  
Immunodeficiency associated with DNA repair defects
H01344  
Nijmegen Breakage Syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Replication and repair
   03440 Homologous recombination
    4683 (NBN)
DNA replication proteins [BR:hsa03032]
 Eukaryotic Type
  DNA Replication Termination Factors
   Other telomere regulation proteins
    MRN complex
     4683 (NBN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
8q21
AA seq 754 aa AA seqDB search
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT
DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL
DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF
LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT
TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT
LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH
AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR
SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR
NT seq 2265 nt NT seq  +upstreamnt  +downstreamnt
atgtggaaactgctgcccgccgcgggcccggcaggaggagaaccatacagacttttgact
ggcgttgagtacgttgttggaaggaaaaactgtgccattctgattgaaaatgatcagtcg
atcagccgaaatcatgctgtgttaactgctaacttttctgtaaccaacctgagtcaaaca
gatgaaatccctgtattgacattaaaagataattctaagtatggtacctttgttaatgag
gaaaaaatgcagaatggcttttcccgaactttgaagtcgggggatggtattacttttgga
gtgtttggaagtaaattcagaatagagtatgagcctttggttgcatgctcttcttgttta
gatgtctctgggaaaactgctttaaatcaagctatattgcaacttggaggatttactgta
aacaattggacagaagaatgcactcaccttgtcatggtatcagtgaaagttaccattaaa
acaatatgtgcactcatttgtggacgtccaattgtaaagccagaatattttactgaattc
ctgaaagcagttgagtccaagaagcagcctccacaaattgaaagtttttacccacctctt
gatgaaccatctattggaagtaaaaatgttgatctgtcaggacggcaggaaagaaaacaa
atcttcaaagggaaaacatttatatttttgaatgccaaacagcataagaaattgagttcc
gcagttgtctttggaggtggggaagctaggttgataacagaagagaatgaagaagaacat
aatttctttttggctccgggaacgtgtgttgttgatacaggaataacaaactcacagacc
ttaattcctgactgtcagaagaaatggattcagtcaataatggatatgctccaaaggcaa
ggtcttagacctattcctgaagcagaaattggattggcggtgattttcatgactacaaag
aattactgtgatcctcagggccatcccagtacaggattaaagacaacaactccaggacca
agcctttcacaaggcgtgtcagttgatgaaaaactaatgccaagcgccccagtgaacact
acaacatacgtagctgacacagaatcagagcaagcagatacatgggatttgagtgaaagg
ccaaaagaaatcaaagtctccaaaatggaacaaaaattcagaatgctttcacaagatgca
cccactgtaaaggagtcctgcaaaacaagctctaataataatagtatggtatcaaatact
ttggctaagatgagaatcccaaactatcagctttcaccaactaaattgccaagtataaat
aaaagtaaagatagggcttctcagcagcagcagaccaactccatcagaaactactttcag
ccgtctaccaaaaaaagggaaagggatgaagaaaatcaagaaatgtcttcatgcaaatca
gcaagaatagaaacgtcttgttctcttttagaacaaacacaacctgctacaccctcattg
tggaaaaataaggagcagcatctatctgagaatgagcctgtggacacaaactcagacaat
aacttatttacagatacagatttaaaatctattgtgaaaaattctgccagtaaatctcat
gctgcagaaaagctaagatcaaataaaaaaagggaaatggatgatgtggccatagaagat
gaagtattggaacagttattcaaggacacaaaaccagagttagaaattgatgtgaaagtt
caaaaacaggaggaagatgtcaatgttagaaaaaggccaaggatggatatagaaacaaat
gacactttcagtgatgaagcagtaccagaaagtagcaaaatatctcaagaaaatgaaatt
gggaagaaacgtgaactcaaggaagactcactatggtcagctaaagaaatatctaacaat
gacaaacttcaggatgatagtgagatgcttccaaaaaagctgttattgactgaatttaga
tcactggtgattaaaaactctacttccagaaatccatctggcataaatgatgattatggt
caactaaaaaatttcaagaaattcaaaaaggtcacatatcctggagcaggaaaacttcca
cacatcattggaggatcagatctaatagctcatcatgctcgaaagaatacagaactagaa
gagtggctaaggcaggaaatggaggtacaaaatcaacatgcaaaagaagagtctcttgct
gatgatctttttagatacaatccttatttaaaaaggagaagataa

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