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NBS1 (human)

Overview NBS1 a member of the MRE11/RAD50 double-strand break repair complex. Involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. Mutation results in the Nijmegen breakage syndrome (NBS), an autosomal recessive chromosomal instability syndrome. Note: This description may include information from UniProtKB. Protein type: Cell cycle regulation; DNA repair Cellular Component: nucleoplasm; Mre11 complex; nuclear chromosome, telomeric region; nucleolus; replication fork; nucleus; nuclear inclusion body Molecular Function: ATP-dependent DNA helicase activity; protein binding; damaged DNA binding; protein N-terminus binding; transcription factor binding Biological Process: response to drug; meiosis; DNA damage response, signal transduction by p53 class mediator; apoptosis; regulation of fibroblast proliferation; G1/S transition checkpoint; isotype switching; positive regulation of kinase activity; DNA repair; positive regulation of protein amino acid autophosphorylation; double-strand break repair via homologous recombination; DNA duplex unwinding; regulation of DNA replication initiation; cell proliferation; negative regulation of neuron differentiation; mitotic cell cycle G2/M transition DNA damage checkpoint; double-strand break repair; DNA damage checkpoint; positive regulation of cell proliferation; blastocyst growth; cell cycle arrest; neuromuscular process controlling balance; telomere maintenance Reference #:  O60934 (UniProtKB) Alt. Names/Synonyms: AT-V1; AT-V2; ATV; Cell cycle regulatory protein p95; FLJ10155; MGC87362; NBN; NBS; NBS1; Nibrin; Nijmegen breakage syndrome 1 (nibrin); Nijmegen breakage syndrome protein 1; P95; p95 protein of the MRE11/RAD50 complex Gene Symbols: NBN Molecular weight: 84,959 Da Basal Isoelectric point: 6.5  Predict pI for various phosphorylation states CST Pathways:  Cell Cycle: G2/M DNA Damage Checkpoint  |  Protein Acetylation Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below NBS1

STRING  |  Scansite  |  Phospho.ELM  |  NetworKIN  |  Pfam  |  DISEASE 251260 602667  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Sites Implicated In
apoptosis, induced: S278‑p, S343‑p cell cycle regulation: S278‑p, S343‑p cell growth, altered: S343‑p chromatin organization, altered: S278‑p, S343‑p acetylation: S343‑p activation: S343‑p phosphorylation: S278‑p, S343‑p

	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K3-a	_____MWkLLPAAGP
0	1		Y16-p	GPAGGEPyRLLTGVE
0	10		S58-p	NFSVTNLsQtDEIPV
0	2		T60-p	SVTNLsQtDEIPVLT
0	1		S195-p	KQPPQIEsFyPPLDE
0	1		Y197-p	PPQIEsFyPPLDEPS
1	0		K208-a	DEPSIGSkNVDLSGR
1	0		K233-a	TFIFLNAkQHKKLSS
8	0		S278-p	VDTGITNsQTLIPDC
0	1		S292-p	CQKKWIQsIMDMLQR
1	0		K334-a	GHPSTGLktTtPGPs
0	1		T335-p	HPSTGLktTtPGPsL
0	3		T337-p	STGLktTtPGPsLsQ
0	3		S341-p	ktTtPGPsLsQGVsV
38	54		S343-p	TtPGPsLsQGVsVDE
0	3		S347-p	PsLsQGVsVDEKLMP
0	1		K388-m1	PKEIKVSkMEQKFRM
1	67		S397-p	EQKFRMLsQDAPtVK
0	1		A400	FRMLsQDAPtVKESC
0	1		T402-p	MLsQDAPtVKESCKT
0	1		Y429-p	AKMRIPNyQLsPtKL
1	12		S432-p	RIPNyQLsPtKLPsI
0	1		T434-p	PNyQLsPtKLPsINk
0	1		S438-p	LsPtKLPsINksKDR
1	0		K441-a	tKLPsINksKDRASQ
0	2		S442-p	KLPsINksKDRASQQ
0	1		S488-p	ARIETSCsLLEQTQP
0	7		T497-p	LEQTQPAtPSLWKNk
1	0		K504-a	tPSLWKNkEQHLsEN
0	2		S509-p	KNkEQHLsENEPVDt
0	1		T516-p	sENEPVDtNSDNNLF
0	2		N534	DLKSIVKNSASKSHA
1	3		K544-a	SKSHAAEkLRSNKkR
0	1		K550-a	EkLRSNKkREMDDVA
0	1		K568-a	EVLEQLFkDTKPELE
0	1		S604-p	IETNDTFsDEAVPEs
0	1		A607	NDTFsDEAVPEssKI
0	1		S611-p	sDEAVPEssKIsQEN
0	4		S612-p	DEAVPEssKIsQENE
1	11		S615-p	VPEssKIsQENEIGK
1	0		K665-a	EFRSLVIkNSTSRNP
0	1		K665-u	EFRSLVIkNSTSRNP
0	2		K683-u	NDDYGQLkNFKKFKk
1	0		K690-a	kNFKKFKkVTyPGAG
0	1		Y693-p	KKFKkVTyPGAGkLP
1	0		K698-a	VTyPGAGkLPHIIGG
0	1		S706-p	LPHIIGGsDLIAHHA
1	0		K715-a	LIAHHARkNTELEEW

	mouse
K3	_____MWKLLPAAGA
Y16	GAAPGEPYRLLAGVE
S58	NFPVTSLSQTDEIPT
T60	PVTSLSQTDEIPTLT
S195	KQPPDIESFYPPIDE
Y197	PPDIESFYPPIDEPA
K208	DEPAIGSKSVDLSGR
K233	TFVFLNAKQHKKLSS
T278-p	VDVGITNtQLIISHS
L292	SQKKWIHLIMDTLQR
K334	GQPCTELKTTTPGPS
T335	QPCTELKTTTPGPSL
T337	CTELKTTTPGPSLSQ
S341	KTTTPGPSLSQVLSA
S343	TTPGPSLSQVLSANG
S347	PSLSQVLSANGKIIP
G389	PEEVKIPGLEQSSRK
S398-p	EQSSRKLsQEtFNIK
T401-p	SRKLsQEtFNIKEAP
N403	KLsQEtFNIKEAPKP
Y430	VRGKTPSYQLsPMKF
S433-p	KTPSYQLsPMKFPVA
M435	PSYQLsPMKFPVANK
V439	LsPMKFPVANKNKDW
K442	MKFPVANKNKDWTSQ
N443	KFPVANKNKDWTSQQ
S488	SRMELSCSLLEQTQP
G497	LEQTQPAGPSLWKSK
K504	GPSLWKSKEHQSQNA
S508	WKSKEHQSQNATLDR
R515	SQNATLDREADTSSV
S533-p	DIELNRKsPDRKPLP
T543	RKPLPTETLRPRKRK
R549	ETLRPRKRKDVDLAT
R566	EVLEELLRSTKPELA
N602	AERNRPLNGGsEPES
S605-p	NRPLNGGsEPESNSA
S609	NGGsEPESNSALQED
N610	GGsEPESNSALQEDE
L613	EPESNSALQEDEREK
S663	EFRSLVVSNHNSTSR
S663	EFRSLVVSNHNSTSR
K681	VNECGPLKNFKKFKK
K688	KNFKKFKKATFPGAG
F691	KKFKKATFPGAGKLP
K696	ATFPGAGKLPHIIGG
S704	LPHIIGGSDLVGHHA
K713	LVGHHARKNTELEEW

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