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  nibrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa03440  Homologous recombination
hsa04218  Cellular senescence
Module
hsa_M00291  MRN complex
hsa_M00295  BRCA1-associated genome surveillance complex (BASC)
Disease
H00094  Immunodeficiency associated with DNA repair defects
H01344  Nijmegen syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09124 Replication and repair
   03440 Homologous recombination
    4683 (NBN)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    4683 (NBN)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    4683 (NBN)
   03400 DNA repair and recombination proteins [BR:hsa03400]
    4683 (NBN)
DNA replication proteins [BR:hsa03032]
 Eukaryotic Type
  DNA Replication Termination Factors
   Other telomere regulation proteins
    MRN complex
     4683 (NBN)
DNA repair and recombination proteins [BR:hsa03400]
 Eukaryotic Type
  DSBR (double strand breaks repair)
   HR (homologous recombination)
    MRN(MRX) complex
     4683 (NBN)
    BRCA1-C complex
     4683 (NBN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Nbs1_C NIBRIN_BRCT_II FHA RTT107_BRCT_5 Yop-YscD_cpl BRCT PTCB-BRCT
Motif
Other DBs
NCBI-GeneID: 4683
NCBI-ProteinID: NP_002476
OMIM: 602667
HGNC: 7652
Ensembl: ENSG00000104320
Vega: OTTHUMG00000153546
Pharos: O60934(Tbio)
UniProt: O60934
Position
8q21.3
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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