NBN
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Homo sapiens |
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NBN is differentially expressed in 354 experiments: 142 organism parts: ovary, heart, ... (140 more);, 239 disease states: normal, breast carcinoma, ... (237 more);, 114 cell types 461 cell lines 50 compound treatments and 82 other conditions. |
| Synonyms |
AT-V2, AT-V1, NBS1, NBS, ATV |
| Orthologs |
NBN
(Gallus gallus)
Nbn
(Mus musculus)
Nbn
(Rattus norvegicus)
ENSCING00000002421
(Ciona intestinalis)
nbn
(Danio rerio)
NBN
(Bos taurus)
nbs
(Drosophila melanogaster)
nbn
(Xenopus laevis)
NBN
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology ID |
GO:0008134, GO:0003684, GO:0008283, GO:0008284, GO:0007049, GO:0007050, GO:0007126, GO:0004003, GO:0042493, GO:0000077, GO:0005622, GO:0005515, GO:0047485, GO:0006915, GO:0005730, GO:0005694, GO:0005634, GO:0005654, GO:0005657, GO:0030870, GO:0000723, GO:0000724, GO:0032508, GO:0000784, GO:0006302, GO:0006281, GO:0030330, GO:0007095, GO:0031954, GO:0042405, GO:0048145, GO:0050885, GO:0001701, GO:0045665, GO:0001832, GO:0031576, GO:0031575, GO:0030174, GO:0033674, GO:0045190 |
| Gene Ontology Term |
telomere maintenance, DNA damage checkpoint, double-strand break repair via homologous recombination, protein binding, apoptosis, DNA repair, cell proliferation, damaged DNA binding, Mre11 complex, intracellular, meiosis, positive regulation of cell proliferation, protein N-terminus binding, replication fork, cell cycle arrest, double-strand break repair, transcription factor binding, DNA duplex unwinding, nuclear chromosome, telomeric region, DNA damage response, signal transduction by p53 class mediator, cell cycle, nucleus, ATP-dependent DNA helicase activity, response to drug, chromosome, nucleoplasm, nucleolus, nuclear inclusion body, regulation of fibroblast proliferation, in utero embryonic development, blastocyst growth, regulation of DNA-dependent DNA replication initiation, mitotic cell cycle G2/M transition DNA damage checkpoint, neuromuscular process controlling balance, negative regulation of neuron differentiation, G2/M transition checkpoint, isotype switching, positive regulation of kinase activity, positive regulation of protein autophosphorylation, mitotic cell cycle G1/S transition checkpoint |
| InterPro ID |
IPR016592, IPR001357, IPR000253, IPR013908 |
| InterPro Term |
Nibrin_met, FHA_dom, BRCT, DNA-repair_Nbs1_C |
| Ensembl Family |
ENSFM00250000006409 |
| Ensembl Family Description |
NIBRIN NIJMEGEN BREAKAGE SYNDROME 1 |
| Ensembl Protein ID |
ENSP00000429971, ENSP00000265433, ENSP00000430983, ENSP00000428717, ENSP00000379551, ENSP00000428252, ENSP00000386924, ENSP00000445213 |
| EMBL-Bank ID |
AK223256, AY566246, AB013139, CH471060, BX640816, BC108650, AK312410, BC136802, BC136803, AF058696, AF069291, AF051334 |
| Description |
nibrin [Source:HGNC Symbol;Acc:7652] |
| Entrez Gene ID |
4683 |
| UniGene ID |
Hs.652803, Hs.492208 |
| Gene-Disease Assocation |
APLASTIC ANEMIA, BREAST CANCER, NIJMEGEN BREAKAGE SYNDROME |
| Ensembl Gene ID |
ENSG00000104320 |
| RefSeq ID |
NP_002476, NM_002485 |
| UniProt Accession |
O60934, E5RGU1, E5RGR7, E5RGN7, E2QRP0, F5H3R2 |
| HGNC Symbol |
NBN |
| Ensembl Transcript ID |
ENST00000452387, ENST00000523444, ENST00000265433, ENST00000494804, ENST00000520325, ENST00000519426, ENST00000517772, ENST00000517337, ENST00000474821, ENST00000409330, ENST00000396252 |
| Design Element |
ENST00000517337, 202906_s_at, ENST00000396252, ENST00000265433, Hs.25812.0.S2_3p_a_at, ENST00000409330, 35153_at, 202907_s_at, 202905_x_at, g6996019_3p_a_at, ENST00000519426, Hs.25812.0.S1_3p_a_at, 217299_s_at, ENST00000523444, ENST00000517772, ENST00000520325, ENST00000494804, ENST00000474821, ENST00000452387 |
| Search EB-eye |
ENSG00000104320
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