NBN report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0032508Biological processDNA duplex unwinding
GO_0090656Biological processt-circle formation
GO_0001832Biological processblastocyst growth
GO_0031848Biological processprotection from non-homologous end joining at telomere
GO_0090737Biological processtelomere maintenance via telomere trimming
GO_0006302Biological processdouble-strand break repair
GO_0050885Biological processneuromuscular process controlling balance
GO_0097681Biological processdouble-strand break repair via alternative nonhomologous end joining
GO_0110025Biological processDNA strand resection involved in replication fork processing
GO_0000724Biological processdouble-strand break repair via homologous recombination
GO_0007095Biological processmitotic G2 DNA damage checkpoint signaling
GO_0033674Biological processpositive regulation of kinase activity
GO_1904354Biological processnegative regulation of telomere capping
GO_0097193Biological processintrinsic apoptotic signaling pathway
GO_0051321Biological processmeiotic cell cycle
GO_0000729Biological processDNA double-strand break processing
GO_0044818Biological processmitotic G2/M transition checkpoint
GO_0035825Biological processhomologous recombination
GO_0032206Biological processpositive regulation of telomere maintenance
GO_0062176Biological processR-loop processing
GO_0030174Biological processregulation of DNA-templated DNA replication initiation
GO_0070534Biological processprotein K63-linked ubiquitination
GO_0000723Biological processtelomere maintenance
GO_0043247Biological processtelomere maintenance in response to DNA damage
GO_1905168Biological processpositive regulation of double-strand break repair via homologous recombination
GO_0007405Biological processneuroblast proliferation
GO_1990166Biological processprotein localization to site of double-strand break
GO_0031954Biological processpositive regulation of protein autophosphorylation
GO_0045190Biological processisotype switching
GO_0031860Biological processtelomeric 3' overhang formation
GO_0051726Biological processregulation of cell cycle
GO_0030330Biological processDNA damage response, signal transduction by p53 class mediator
GO_0000077Biological processDNA damage checkpoint signaling
GO_0042405Cellular componentnuclear inclusion body
GO_0005730Cellular componentnucleolus
GO_0030870Cellular componentMre11 complex
GO_0005657Cellular componentreplication fork
GO_0005654Cellular componentnucleoplasm
GO_0005794Cellular componentGolgi apparatus
GO_0005829Cellular componentcytosol
GO_0016605Cellular componentPML body
GO_0070533Cellular componentBRCA1-C complex
GO_0000781Cellular componentchromosome, telomeric region
GO_0035861Cellular componentsite of double-strand break
GO_0098687Cellular componentchromosomal region
GO_0005634Cellular componentnucleus
GO_0140297Molecular functionDNA-binding transcription factor binding
GO_0042393Molecular functionhistone binding
GO_0140463Molecular functionchromatin-protein adaptor activity
GO_0043539Molecular functionprotein serine/threonine kinase activator activity
GO_0140031Molecular functionphosphorylation-dependent protein binding
GO_0005515Molecular functionprotein binding
GO_0003684Molecular functiondamaged DNA binding

IV. Literature review

[source]
Gene nameNBN
Protein nameNibrin
Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1)
SynonymsNBS
P95
hCG_33061
NBS1
DescriptionFUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. .

AccessionsENST00000396252.6
ENST00000697298.1
ENST00000697303.1
ENST00000697311.1
ENST00000697308.1
ENST00000697300.1
A0A8V8TKY0
ENST00000697299.1
A0A8V8TLA3
A0A087X1V5
ENST00000697312.1
ENST00000517772.5
A0A8V8TMG6
A0A8V8TM80
ENST00000697309.1
A0A8V8TL91
ENST00000697307.1
ENST00000265433.8
ENST00000697293.1
ENST00000697310.1
A0A8V8TL98
A0A8V8TKW6
ENST00000697294.1
ENST00000613033.1
ENST00000697295.1
A0A8V8TM88
ENST00000697301.1
ENST00000519426.5
A0PJ71
E2QRP0
A0A0C4DG07
ENST00000697306.1
A0A8V8TMG0
ENST00000697292.1
A0A8V8TM94
ENST00000697296.1
A0A8V8TL95
E5RGU1
ENST00000517337.2
A0A8V8TMH6
ENST00000697315.1
O60934
A6H8Y5
A0A8V8TKV9
ENST00000523444.2
A0A8V8TMH1
ENST00000409330.5
A0A8V8TKY5
E5RGR7
ENST00000697302.1
ENST00000697304.1