Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4683

Name

NBN

Synonymous

AT-V1|AT-V2|ATV|NBS|NBS1|P95;nibrin;NBN;nibrin

Definition

Nijmegen breakage syndrome 1 (nibrin)|cell cycle regulatory protein p95|p95 protein of the MRE11/RAD50 complex

Position

8q21

Gene Type

protein-coding

Gene Regulation:

Upstream microRNAs
Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Experimentally verified miRNA from miRTarBase   [Top]

Experimentally validated miRNA-TS gene regulation information.

Transcription Factors   [Top]

Regulation From TransFac database

Rad50(h) + NBS1(h) <==> Rad50(h):NBS1(h) (binding)
mdm2(h) + NBS1(h) <==> mdm2(h):NBS1(h) (binding)
NBS1(h) + ATP --> NBS1(h){pS343} + ADP (phosphorylation)
Mre11(h) + NBS1(h) + Rad50(h) <==> Mre11(h):NBS1(h):Rad50(h) (binding)
WS(h) + NBS1(h) + Mre11(h) + Rad50(h) <==> WS(h):Mre11(h):NBS1(h):Rad50(h) (binding)
BARD1(h) + NBS1(h) + TOP2BP1(h) + brca1(h) <==> BARD1(h):NBS1(h):TOP2BP1(h):brca1(h) (binding)
Mre11(h) + NBS1(h) + Bach1(h) + Rad50(h) + TOP2BP1(h) + BARD1(h) <==> Mre11(h):NBS1(h):Bach1(h):Rad50(h):TOP2BP1(h):BARD1(h) (binding)
Mre11(h) + NBS1(h) + CtIP(h) + Rad50(h) + brca1(h) <==> Mre11(h):NBS1(h):CtIP(h):Rad50(h):brca1(h) (binding)
brca1(h) + NBS1(h) <==> brca1(h):NBS1(h) (binding)
BLM(h) + NBS1(h) <==> BLM(h):NBS1(h) (binding)
NBS1(h) + Rad50(h) + Mre11(h) + h2ax(h){pS140} <==> NBS1(h):Rad50(h):Mre11(h):h2ax(h){pS140} (binding)
NBS1(h) + p300(h) <==> NBS1(h):p300(h) (binding)
NBS1(h) --> Chk1(h){pS317} (increase of phosphorylation)
NBN(h) --> NBS1(h) (expression).
Mre11(h) --> NBS1(h) (increase of abundance)
mdm2(h) + NBS1(h) <==> mdm2(h):NBS1(h) (binding)
NBS1(h) + mdm2-isoform1(m) <==> NBS1(h):mdm2-isoform1(m) (binding)
WS(h) + NBS1(h) <==> WS(h):NBS1(h) (binding)
NBS1(h) + ATP --ATM(m.s.)--> NBS1(h){pS343} + ADP (phosphorylation)
NBS1(h) + ATP --ATR(m.s.)--> NBS1(h){pS343} + ADP (phosphorylation)
NBS1(h) + ATP --DNA-PK(m.s.)--> NBS1(h){pS343} + ADP (phosphorylation)
NBS1(h) --> Chk2(h){pT68} (increase of phosphorylation)
NBN(h) --> NBS1(h) (expression).

Post Transcriptional Modification   [Top]

Location (AA)

PTM type

Literature

Database

278Phosphoserine (by ATM).Swiss-Prot 53.0
343Phosphoserine (by ATM).Swiss-Prot 53.0
397Phosphoserine.Swiss-Prot 53.0
432Phosphoserine.Swiss-Prot 53.0
615Phosphoserine.Swiss-Prot 53.0
343Phosphoserine (ATM)11252893;10839545;10839544;15302935;15279770Phospho.ELM 6.0
397Phosphoserine (ATM)11252893;10839545Phospho.ELM 6.0
278Phosphoserine (ATM)10839544;15279770Phospho.ELM 6.0

Methylation Profile   [Top]

Chromosome

Location

Source

chr8

Promoter: 91065575 - 91067575Agilent_014791

chr8

Promoter: 91065575 - 91067575GSE27584


')