O60934

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	NBN_HUMAN; O60934;
Entrez ID	4683
GenBank Protein ID	NM_001024688.2; NM_002485.4; XM_011517045.1;
GenBank Nucleotide ID	NP_001019859.1; NP_002476.2; XP_011515347.1;
Protein Name	Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1)
Gene Name	NBN; NBS; NBS1; P95
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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 D(view all) Functional Description 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.
Sequence (Fasta)	MWKLLPAAGP AGGEPYRLLT GVEYVVGRKN CAILIENDQS ISRNHAVLTA NFSVTNLSQT 60 DEIPVLTLKD NSKYGTFVNE EKMQNGFSRT LKSGDGITFG VFGSKFRIEY EPLVACSSCL 120 DVSGKTALNQ AILQLGGFTV NNWTEECTHL VMVSVKVTIK TICALICGRP IVKPEYFTEF 180 LKAVESKKQP PQIESFYPPL DEPSIGSKNV DLSGRQERKQ IFKGKTFIFL NAKQHKKLSS 240 AVVFGGGEAR LITEENEEEH NFFLAPGTCV VDTGITNSQT LIPDCQKKWI QSIMDMLQRQ 300 GLRPIPEAEI GLAVIFMTTK NYCDPQGHPS TGLKTTTPGP SLSQGVSVDE KLMPSAPVNT 360 TTYVADTESE QADTWDLSER PKEIKVSKME QKFRMLSQDA PTVKESCKTS SNNNSMVSNT 420 LAKMRIPNYQ LSPTKLPSIN KSKDRASQQQ QTNSIRNYFQ PSTKKRERDE ENQEMSSCKS 480 ARIETSCSLL EQTQPATPSL WKNKEQHLSE NEPVDTNSDN NLFTDTDLKS IVKNSASKSH 540 AAEKLRSNKK REMDDVAIED EVLEQLFKDT KPELEIDVKV QKQEEDVNVR KRPRMDIETN 600 DTFSDEAVPE SSKISQENEI GKKRELKEDS LWSAKEISNN DKLQDDSEML PKKLLLTEFR 660 SLVIKNSTSR NPSGINDDYG QLKNFKKFKK VTYPGAGKLP HIIGGSDLIA HHARKNTELE 720 EWLRQEMEVQ NQHAKEESLA DDLFRYNPYL KRRR 755 Fasta Sequence >O60934\|NBN; NBS; NBS1; P95\|Homo sapiens (Human) MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLSQTDEIPVLTLKDNSKYGTFVNEEKMQNGFSRTLKSGDGITFGVFGSKFRIEYEPLVACSSCLDVSGKTALNQAILQLGGFTVNNWTEECTHLVMVSVKVTIKTICALICGRPIVKPEYFTEFLKAVESKKQPPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFLNAKQHKKLSSAVVFGGGEARLITEENEEEHNFFLAPGTCVVDTGITNSQTLIPDCQKKWIQSIMDMLQRQGLRPIPEAEIGLAVIFMTTKNYCDPQGHPSTGLKTTTPGPSLSQGVSVDEKLMPSAPVNTTTYVADTESEQADTWDLSERPKEIKVSKMEQKFRMLSQDAPTVKESCKTSSNNNSMVSNTLAKMRIPNYQLSPTKLPSINKSKDRASQQQQTNSIRNYFQPSTKKRERDEENQEMSSCKSARIETSCSLLEQTQPATPSLWKNKEQHLSENEPVDTNSDNNLFTDTDLKSIVKNSASKSHAAEKLRSNKKREMDDVAIEDEVLEQLFKDTKPELEIDVKVQKQEEDVNVRKRPRMDIETNDTFSDEAVPESSKISQENEIGKKRELKEDSLWSAKEISNNDKLQDDSEMLPKKLLLTEFRSLVIKNSTSRNPSGINDDYGQLKNFKKFKKVTYPGAGKLPHIIGGSDLIAHHARKNTELEEWLRQEMEVQNQHAKEESLADDLFRYNPYLKRRR

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Chronic myelogenous leukemia/Chronic myeloid leukemia		U	S343	17431132
1	[Reference]: Enhanced ATM kinase-dependent phosphorylation of Nbs1 on serine 343 (S343) in response to genotoxic treatment was detected in leukemia cells expressing BCR/ABL and other FTKs in comparison to normal counterparts stimulated with IL-3, GM-CSF, and SCF.

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	NHL, glioma, medulloblastoma, rhabdomyosarcoma Nijmegen breakage syndrome
CTD (Curated) (count: 6)	MESH:D000741 ; Anemia, Aplastic MESH:D009364 ; Neoplasm Recurrence, Local MESH:D049932 ; Nijmegen Breakage Syndrome MESH:D054198 ; Precursor Cell Lymphoblastic Leukemia-Lymphoma MESH:D011471 ; Prostatic Neoplasms MESH:D013280 ; Stomatitis
GWASdb (count: 4)	rs10504885; HIV-1 viral setpoint; Human immunodeficiency virus infectious disease rs16893166; Birth weight; end stage renal failure\|type 2 diabetes mellitus\|cardiovascular system disease rs10109454; Alzheimer's disease; Alzheimer's disease rs2073635; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 49) (view all)	16 GPAGGEPYRLLTGVE dbPAF 195 KQPPQIESFYPPLDE dbPAF 197 PPQIESFYPPLDEPS dbPAF 278 VDTGITNSQTLIPDC dbPAF 292 CQKKWIQSIMDMLQR dbPAF 335 HPSTGLKTTTPGPSL dbPAF 336 PSTGLKTTTPGPSLS dbPAF 337 STGLKTTTPGPSLSQ dbPAF 341 KTTTPGPSLSQGVSV dbPAF 343 TTPGPSLSQGVSVDE dbPAF 347 PSLSQGVSVDEKLMP dbPAF 397 EQKFRMLSQDAPTVK dbPAF 402 MLSQDAPTVKESCKT dbPAF 406 DAPTVKESCKTSSNN dbPAF 409 TVKESCKTSSNNNSM dbPAF 410 VKESCKTSSNNNSMV dbPAF 411 KESCKTSSNNNSMVS dbPAF 418 SNNNSMVSNTLAKMR dbPAF 420 NNSMVSNTLAKMRIP dbPAF 429 AKMRIPNYQLSPTKL dbPAF 432 RIPNYQLSPTKLPSI dbPAF 434 PNYQLSPTKLPSINK dbPAF 438 LSPTKLPSINKSKDR dbPAF 442 KLPSINKSKDRASQQ dbPAF 447 NKSKDRASQQQQTNS dbPAF 462 IRNYFQPSTKKRERD dbPAF 463 RNYFQPSTKKRERDE dbPAF 485 CKSARIETSCSLLEQ dbPAF 486 KSARIETSCSLLEQT dbPAF 488 ARIETSCSLLEQTQP dbPAF 493 SCSLLEQTQPATPSL dbPAF 497 LEQTQPATPSLWKNK dbPAF 499 QTQPATPSLWKNKEQ dbPAF 509 KNKEQHLSENEPVDT dbPAF 516 SENEPVDTNSDNNLF dbPAF 518 NEPVDTNSDNNLFTD dbPAF 526 DNNLFTDTDLKSIVK dbPAF 535 LKSIVKNSASKSHAA dbPAF 58 NFSVTNLSQTDEIPV dbPAF 60 SVTNLSQTDEIPVLT dbPAF 602 MDIETNDTFSDEAVP dbPAF 604 IETNDTFSDEAVPES dbPAF 611 SDEAVPESSKISQEN dbPAF 612 DEAVPESSKISQENE dbPAF 615 VPESSKISQENEIGK dbPAF 661 LLLTEFRSLVIKNST dbPAF 673 NSTSRNPSGINDDYG dbPAF 693 KKFKKVTYPGAGKLP dbPAF 706 LPHIIGGSDLIAHHA dbPAF
Acetylation (count: 6)	208 DEPSIGSKNVDLSGR PLMD 233 TFIFLNAKQHKKLSS PLMD 334 GHPSTGLKTTTPGPS PLMD 544 SKSHAAEKLRSNKKR PLMD 642 KEISNNDKLQDDSEM PLMD 73 LTLKDNSKYGTFVNE PLMD
Ubiquitination (count: 11) (view all)	188 LKAVESKKQPPQIES PLMD 3 *****MWKLLPAAGP PLMD 334 GHPSTGLKTTTPGPS PLMD 404 SQDAPTVKESCKTSS PLMD 502 PATPSLWKNKEQHLS PLMD 544 SKSHAAEKLRSNKKR PLMD 642 KEISNNDKLQDDSEM PLMD 665 EFRSLVIKNSTSRNP PLMD 683 NDDYGQLKNFKKFKK PLMD 715 LIAHHARKNTELEEW PLMD 82 GTFVNEEKMQNGFSR PLMD
Sumoylation (count: 5)	504 TPSLWKNKEQHLSEN PLMD 529 LFTDTDLKSIVKNSA PLMD 579 PELEIDVKVQKQEED PLMD 582 EIDVKVQKQEEDVNV PLMD 627 IGKKRELKEDSLWSA PLMD
Malonylation (count: 2)	233 TFIFLNAKQHKKLSS PLMD 73 LTLKDNSKYGTFVNE PLMD
Methylation (count: 1)	388 PKEIKVSKMEQKFRM PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

O60934	P16104	HPRD; IntAct; MINT
O60934	Q13315	HPRD
O60934	Q96EB6	IntAct
O60934	Q9BXW9	HPRD; MINT