Entity Details

Primary name NBN_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO60934
EntryNameNBN_HUMAN
FullNameNibrin
TaxID9606
Evidenceevidence at protein level
Length754
SequenceStatuscomplete
DateCreated2006-04-04
DateModified2021-06-02

Ontological Relatives

GenesNBN

GO terms

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GOName
GO:0000077 DNA damage checkpoint signaling
GO:0000723 telomere maintenance
GO:0000724 double-strand break repair via homologous recombination
GO:0000729 DNA double-strand break processing
GO:0000781 chromosome, telomeric region
GO:0001832 blastocyst growth
GO:0003684 damaged DNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005657 replication fork
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0006260 DNA replication
GO:0006302 double-strand break repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0007095 mitotic G2 DNA damage checkpoint signaling
GO:0008134 transcription factor binding
GO:0008283 cell population proliferation
GO:0016032 viral process
GO:0016605 PML body
GO:0030174 regulation of DNA-dependent DNA replication initiation
GO:0030330 DNA damage response, signal transduction by p53 class mediator
GO:0030870 Mre11 complex
GO:0031860 telomeric 3' overhang formation
GO:0031954 positive regulation of protein autophosphorylation
GO:0032206 positive regulation of telomere maintenance
GO:0032508 DNA duplex unwinding
GO:0033674 positive regulation of kinase activity
GO:0035861 site of double-strand break
GO:0042405 nuclear inclusion body
GO:0042770 signal transduction in response to DNA damage
GO:0045190 isotype switching
GO:0047485 protein N-terminus binding
GO:0050885 neuromuscular process controlling balance
GO:0051321 meiotic cell cycle
GO:0090656 t-circle formation
GO:0090737 telomere maintenance via telomere trimming
GO:0097193 intrinsic apoptotic signaling pathway
GO:1901796 regulation of signal transduction by p53 class mediator
GO:1904354 negative regulation of telomere capping

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR000253 Forkhead-associated (FHA) domainDomainDomain
IPR008984 SMAD/FHA domain superfamilyFamilyHomologous superfamily
IPR013908 DNA repair Nbs1, C-terminalDomainDomain
IPR016592 NibrinFamilyFamily
IPR032429 Nibrin, second BRCT domainDomainDomain
IPR036420 BRCT domain superfamilyFamilyHomologous superfamily
IPR040227 Nibrin-relatedFamilyFamily
IPR043014 Nibrin, second BRCT domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
251260 OMIMNijmegen breakage syndrome (NBS)A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. The disease is caused by variants affecting the gene represented in this entry.
114480 OMIMBreast cancer (BC)A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Disease susceptibility is associated with variants affecting the gene represented in this entry.
609135 OMIMAplastic anemia (AA)A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Interactions

90 interactions

InteractorPartnerSourcesPublicationsLink
NBN_HUMANCHK2_HUMANHPRD, MINT11438675 details
NBN_HUMANH2AX_HUMANBioGRID, HPRD, IntAct, MINT, UniProt11110662 12419185 15201865 15733840 16377563 16932743 18001824 18001825 18583988 21676867 22157895 22565321 22941933 23145133 31501894 details
NBN_HUMANMRE11_HUMANBioGRID, DIP, HPRD, MINT, UniProt10426999 10783165 11062235 11238951 12419185 12447395 12607003 12679336 12750284 12861053 15734743 15758953 17500065 17612497 18458108 19244116 19270065 21884979 22078559 22231403 22464731 22939629 22941933 23530059 24413181 24981860 26455393 28363998 28369484 30179224 30440001 9705271 details
NBN_HUMANMDC1_HUMANBioGRID, DIP, HPRD, IntAct, MINT, UniProt12607003 12607005 14519663 15201865 15377652 18001824 18583988 18678890 19804756 20224574 20460517 23115235 25064736 29656893 30179224 details
NBN_HUMANRNF8_HUMANBioGRID, IntAct18001825 23115235 26869104 details
NBN_HUMANRAD50_HUMANBioGRID, HPRD, MINT, UniProt10426999 10783165 11062235 11238951 12124328 12447395 12607003 12679336 15734743 15758953 16391231 17500065 17612497 19197236 22464731 22939629 22941933 23530059 24651726 24981860 26215093 26344197 30179224 30440001 9705271 details
NBN_HUMANEP300_HUMANBioGRID, HPRD, MINT16051665 21108945 details
NBN_HUMANSIR1_HUMANBioGRID, UniProt17612497 details
NBN_HUMANCTIP_HUMANBioGRID, DIP, MINT18171670 22565321 23468639 25558984 26387952 27561354 27940557 details
NBN_HUMANCASC3_HUMANBioGRID, MINT25640309 details
NBN_HUMANARY2_HUMANBioGRID, MINT25640309 details
NBN_HUMANBAP1_HUMANBioGRID, MINT25640309 details
NBN_HUMANSNAI1_HUMANBioGRID, MINT25640309 details
NBN_HUMANRAD17_HUMANMINT24534091 details
NBN_HUMANVRK1_HUMANBioGRID, IntAct26869104 details
NBN_HUMANTCOF_HUMANDIP25064736 details
NBN_HUMANATM_HUMANBioGRID, DIP, HPRD10608806 10783165 10839544 10839545 11252893 15758953 17507690 22464731 24800743 25088203 25895060 30952868 details
NBN_HUMANTP53B_HUMANBioGRID, UniProt20010693 29656893 details
NBN_HUMANBLM_HUMANBioGRID10783165 29523790 details
NBN_HUMANATR_HUMANBioGRID, HPRD10608806 15758953 23368512 details
NBN_HUMANTERF1_HUMANBioGRID, HPRD10913111 details
NBN_HUMANXRCC4_HUMANBioGRID18458108 details
NBN_HUMANRECQ5_HUMANBioGRID19270065 details
NBN_HUMANRAD18_HUMANBioGRID21884979 details
NBN_HUMANPRKDC_HUMANBioGRID, HPRD15758953 details
NBN_HUMANTLK1_HUMANBioGRID12955071 details
NBN_HUMANNUCL_HUMANBioGRID23145133 details
NBN_HUMANUB2D1_HUMANBioGRID23115235 details
NBN_HUMANUBE2N_HUMANBioGRID23115235 details
NBN_HUMANSUMO2_HUMANBioGRID19394292 details
NBN_HUMANH31T_HUMANBioGRID25823024 details
NBN_HUMANHIF1A_HUMANBioGRID25959252 details
NBN_HUMANUBP7_HUMANBioGRID30179224 details
NBN_HUMANRAD51_HUMANBioGRID22325354 details
NBN_HUMANCCNE1_HUMANBioGRID, HPRD, UniProt12607005 details
NBN_HUMANFACD2_HUMANBioGRID, HPRD, MINT12447395 19609304 31180492 details
NBN_HUMANATRX_HUMANBioGRID, UniProt23329831 24651726 27171262 details
NBN_HUMANINT3_HUMANIntAct19683501 details
NBN_HUMANTERF2_HUMANBioGRID, DIP10888888 19287395 22939629 details
NBN_HUMANPK3CB_HUMANDIP20368419 details
NBN_HUMANRPA34_HUMANBioGRID, DIP21884979 25064736 details
NBN_HUMANBRCA1_HUMANBioGRID, HPRD, UniProt10426999 10783165 11504724 12124328 18171670 19244116 25184681 25659039 25939603 29656893 details
NBN_HUMANMLH1_HUMANBioGRID10783165 17121922 details
NBN_HUMANMSH2_HUMANBioGRID10783165 details
NBN_HUMANMSH6_HUMANBioGRID10783165 details
NBN_HUMANRFC1_HUMANBioGRID10783165 details
NBN_HUMANMCPH1_HUMANBioGRID16872911 details
NBN_HUMANDDX1_HUMANBioGRID18710941 details
NBN_HUMANATF2_HUMANBioGRID, HPRD15916964 details
NBN_HUMANWRN_HUMANBioGRID15733840 20600238 details
NBN_HUMANPAXI1_HUMANBioGRID17500065 details
NBN_HUMANH31_HUMANBioGRID21187428 26527279 details
NBN_HUMANTOPB1_HUMANBioGRID17765870 details
NBN_HUMANKAT5_HUMANBioGRID20070254 details
NBN_HUMANTBG1_HUMANBioGRID19244116 details
NBN_HUMANBARD1_HUMANBioGRID16391231 details
NBN_HUMANUBE2A_HUMANBioGRID21884979 details
NBN_HUMANUBE2B_HUMANBioGRID21884979 details
NBN_HUMANXRCC5_HUMANBioGRID, HPRD15758953 details
NBN_HUMANATRIP_HUMANBioGRID, HPRD15758953 details
NBN_HUMANDNLI3_HUMANBioGRID15758953 details
NBN_HUMANHSP74_HUMANBioGRID15758953 details
NBN_HUMANIPO5_HUMANBioGRID15758953 details
NBN_HUMANSKP2_HUMANBioGRID22464731 details
NBN_HUMANMDM2_HUMANBioGRID15734743 18541670 details
NBN_HUMANDCR1C_HUMANBioGRID, HPRD15456891 31900314 details
NBN_HUMANMTOR_HUMANBioGRID23762398 details
NBN_HUMANRICTR_HUMANBioGRID23762398 details
NBN_HUMANSIN1_HUMANBioGRID23762398 details
NBN_HUMANMDM4_HUMANBioGRID24608433 details
NBN_HUMANPHRF1_HUMANBioGRID25855964 details
NBN_HUMANBMI1_HUMANBioGRID25088203 details
NBN_HUMANSLX4_HUMANBioGRID25533185 details
NBN_HUMANFANCJ_HUMANBioGRID16391231 23530059 details
NBN_HUMANHDAC6_HUMANBioGRID24882211 details
NBN_HUMANPRKN_HUMANBioGRID28430587 details
NBN_HUMANMCM9_HUMANBioGRID26215093 details
NBN_HUMANRN169_HUMANBioGRID30104380 details
NBN_HUMANCDK9_HUMANBioGRID, HPRD30179224 8170997 8870681 9258347 details
NBN_HUMANRECQ4_HUMANBioGRID29229926 details
NBN_HUMANE2F1_HUMANBioGRID21512314 30733337 details
NBN_HUMANDYL1_HUMANBioGRID30464262 details
NBN_HUMANTRI29_HUMANBioGRID26095369 details
NBN_HUMANWDHD1_HUMANBioGRID27940557 details
NBN_HUMANPPARG_HUMANBioGRID30699358 details
NBN_HUMANUBR5_HUMANBioGRID30699358 details
NBN_HUMANCDK2_HUMANBioGRID22231403 details
NBN_HUMANPELI1_HUMANBioGRID30952868 details
NBN_HUMANERPG3_HUMANBioGRID31501894 details
NBN_HUMANERCC6_HUMANBioGRID31501894 details