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

Gene name
NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95
Definition
(RefSeq) nibrin
  KO
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-ProteinID: 
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Position
8q21
AA seq 672 aa AA seqDB search
MQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNN
WTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDE
PSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNF
FLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNY
CDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPK
EIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKS
KDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWK
NKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEV
LEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGK
KRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQL
KNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADD
LFRYNPYLKRRR
NT seq 2019 nt NT seq  +upstreamnt  +downstreamnt
atgcagaatggcttttcccgaactttgaagtcgggggatggtattacttttggagtgttt
ggaagtaaattcagaatagagtatgagcctttggttgcatgctcttcttgtttagatgtc
tctgggaaaactgctttaaatcaagctatattgcaacttggaggatttactgtaaacaat
tggacagaagaatgcactcaccttgtcatggtatcagtgaaagttaccattaaaacaata
tgtgcactcatttgtggacgtccaattgtaaagccagaatattttactgaattcctgaaa
gcagttgagtccaagaagcagcctccacaaattgaaagtttttacccacctcttgatgaa
ccatctattggaagtaaaaatgttgatctgtcaggacggcaggaaagaaaacaaatcttc
aaagggaaaacatttatatttttgaatgccaaacagcataagaaattgagttccgcagtt
gtctttggaggtggggaagctaggttgataacagaagagaatgaagaagaacataatttc
tttttggctccgggaacgtgtgttgttgatacaggaataacaaactcacagaccttaatt
cctgactgtcagaagaaatggattcagtcaataatggatatgctccaaaggcaaggtctt
agacctattcctgaagcagaaattggattggcggtgattttcatgactacaaagaattac
tgtgatcctcagggccatcccagtacaggattaaagacaacaactccaggaccaagcctt
tcacaaggcgtgtcagttgatgaaaaactaatgccaagcgccccagtgaacactacaaca
tacgtagctgacacagaatcagagcaagcagatacatgggatttgagtgaaaggccaaaa
gaaatcaaagtctccaaaatggaacaaaaattcagaatgctttcacaagatgcacccact
gtaaaggagtcctgcaaaacaagctctaataataatagtatggtatcaaatactttggct
aagatgagaatcccaaactatcagctttcaccaactaaattgccaagtataaataaaagt
aaagatagggcttctcagcagcagcagaccaactccatcagaaactactttcagccgtct
accaaaaaaagggaaagggatgaagaaaatcaagaaatgtcttcatgcaaatcagcaaga
atagaaacgtcttgttctcttttagaacaaacacaacctgctacaccctcattgtggaaa
aataaggagcagcatctatctgagaatgagcctgtggacacaaactcagacaataactta
tttacagatacagatttaaaatctattgtgaaaaattctgccagtaaatctcatgctgca
gaaaagctaagatcaaataaaaaaagggaaatggatgatgtggccatagaagatgaagta
ttggaacagttattcaaggacacaaaaccagagttagaaattgatgtgaaagttcaaaaa
caggaggaagatgtcaatgttagaaaaaggccaaggatggatatagaaacaaatgacact
ttcagtgatgaagcagtaccagaaagtagcaaaatatctcaagaaaatgaaattgggaag
aaacgtgaactcaaggaagactcactatggtcagctaaagaaatatctaacaatgacaaa
cttcaggatgatagtgagatgcttccaaaaaagctgttattgactgaatttagatcactg
gtgattaaaaactctacttccagaaatccatctggcataaatgatgattatggtcaacta
aaaaatttcaagaaattcaaaaaggtcacatatcctggagcaggaaaacttccacacatc
attggaggatcagatctaatagctcatcatgctcgaaagaatacagaactagaagagtgg
ctaaggcaggaaatggaggtacaaaatcaacatgcaaaagaagagtctcttgctgatgat
ctttttagatacaatccttatttaaaaaggagaagataa

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