Homo sapiens (human): 4683
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Entry
4683 CDS
T01001
Symbol
NBN, AT-V1, AT-V2, ATV, NBS, NBS1, P95, hNbs1
Name
(RefSeq) nibrin
KO
K10867
nibrin
Organism
hsa
Homo sapiens (human)
Pathway
hsa03440
Homologous recombination
hsa04218
Cellular senescence
Network
nt06506
Double-strand break repair
Element
N01439
Double-strand break signaling
N01446
DNA end resection and RPA loading
Disease
H00094
Immunodeficiency associated with DNA repair defects
H01132
Aplastic anemia
H01344
Nijmegen breakage 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
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Nbs1_C
NIBRIN_BRCT_II
FHA
RTT107_BRCT_5
BRCT
Yop-YscD_cpl
PTCB-BRCT
Motif
Other DBs
NCBI-GeneID:
4683
NCBI-ProteinID:
NP_002476
OMIM:
602667
HGNC:
7652
Ensembl:
ENSG00000104320
UniProt:
O60934
Structure
PDB
PDBj
LinkDB
All DBs
Position
8:complement(89933331..89984667)
Genome browser
AA seq
754 aa
AA seq
DB search
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQT
DEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCL
DVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEF
LKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSS
AVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQ
GLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNT
TTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNT
LAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKS
ARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSH
AAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETN
DTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFR
SLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELE
EWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR
NT seq
2265 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
