NHEJ1_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: NHEJ1_HUMAN
• UniProt AC: Q9H9Q4
• Protein Name: Non-homologous end-joining factor 1
• Gene Name: NHEJ1
• Organism: Homo sapiens (Human).
• Sequence Length: 299
• Subcellular Localization: Nucleus .
• Protein Description: DNA repair protein involved in DNA nonhomologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. May serve as a bridge between XRCC4 and the other NHEJ factors located at DNA ends, or may participate in reconfiguration of the end bound NHEJ factors to allow XRCC4 access to the DNA termini. It may act in concert with XRCC6/XRCC5 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are noncomplementary or partially complementary. [PubMed: 16439204]
• Protein Sequence: MEELEQGLLMQPWAWLQLAENSLLAKVFITKQGYALLVSDLQQVWHEQVDTSVVSQRAKELNKRLTAPPAAFLCHLDNLLRPLLKDAAHPSEATFSCDCVADALILRVRSELSGLPFYWNFHCMLASPSLVSQHLIRPLMGMSLALQCQVRELATLLHMKDLEIQDYQESGATLIRDRLKTEPFEENSFLEQFMIEKLPEACSIGDGKPFVMNLQDLYMAVTTQEVQVGQKHQGAGDPHTSNSASLQGIDSQCVNQPEQLVSSAPTLSAPEKESTGTSGPLQRPQLSKVKRKKPRGLFS

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
55	Phosphorylation	QVDTSVVSQRAKELN HCCHHHHHHHHHHHH	16.28	18644470
132	Phosphorylation	LASPSLVSQHLIRPL CCCHHHHHHHHHHHH	19.71	18644470
180 (in isoform 2)	Ubiquitination	-	52.30	21906983
180 (in isoform 1)	Ubiquitination	-	52.30	21906983
180	Ubiquitination	TLIRDRLKTEPFEEN CHHHHHHCCCCCCCC	52.30	21963094
181	Phosphorylation	LIRDRLKTEPFEENS HHHHHHCCCCCCCCC	54.18	-
188	Phosphorylation	TEPFEENSFLEQFMI CCCCCCCCHHHHHHH	34.19	22199227
203	Phosphorylation	EKLPEACSIGDGKPF HHCCCCCCCCCCCCE	36.33	18644470
223	Phosphorylation	DLYMAVTTQEVQVGQ HHHHHHHHCEEECCC	19.01	18644470
240	Phosphorylation	QGAGDPHTSNSASLQ CCCCCCCCCCCHHHC	34.68	27080861
241	Phosphorylation	GAGDPHTSNSASLQG CCCCCCCCCCHHHCC	26.25	27080861
243	Phosphorylation	GDPHTSNSASLQGID CCCCCCCCHHHCCCC	20.99	27080861
245	Phosphorylation	PHTSNSASLQGIDSQ CCCCCCHHHCCCCHH	22.50	18644470
251	Phosphorylation	ASLQGIDSQCVNQPE HHHCCCCHHHCCCHH	24.45	18644470
262	Phosphorylation	NQPEQLVSSAPTLSA CCHHHHHHCCCCCCC	29.40	-
263	Phosphorylation	QPEQLVSSAPTLSAP CHHHHHHCCCCCCCC	30.68	18644470
266	Phosphorylation	QLVSSAPTLSAPEKE HHHHCCCCCCCCCCC	32.82	18644470
268	Phosphorylation	VSSAPTLSAPEKEST HHCCCCCCCCCCCCC	44.23	-
274	Phosphorylation	LSAPEKESTGTSGPL CCCCCCCCCCCCCCC	43.11	26074081
275	Phosphorylation	SAPEKESTGTSGPLQ CCCCCCCCCCCCCCC	45.64	26074081
277	Phosphorylation	PEKESTGTSGPLQRP CCCCCCCCCCCCCCC	30.51	26074081
278	Phosphorylation	EKESTGTSGPLQRPQ CCCCCCCCCCCCCCC	39.49	25159151
286 (in isoform 2)	Phosphorylation	-	6.24	30622161
287	Phosphorylation	PLQRPQLSKVKRKKP CCCCCCHHHCCCCCC	30.10	23401153
288	Trimethylation	LQRPQLSKVKRKKPR CCCCCHHHCCCCCCC	61.44	-
288	Methylation	LQRPQLSKVKRKKPR CCCCCHHHCCCCCCC	61.44	23644510
290 (in isoform 2)	Phosphorylation	-	63.34	30622161
294 (in isoform 2)	Phosphorylation	-	38.31	30622161
295 (in isoform 2)	Phosphorylation	-	64.42	30622161

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
55	S	Phosphorylation	Kinase	PRKDC	P78527	GPS
132	S	Phosphorylation	Kinase	PRKDC	P78527	GPS
181	T	Phosphorylation	Kinase	AKT1	P31749	PSP
223	T	Phosphorylation	Kinase	PRKDC	P78527	GPS
245	S	Phosphorylation	Kinase	PRKDC	P78527	GPS
251	S	Phosphorylation	Kinase	ATM	Q13315	PSP
251	S	Phosphorylation	Kinase	PRKDC	P78527	GPS
263	S	Phosphorylation	Kinase	PRKDC	P78527	GPS
266	T	Phosphorylation	Kinase	PRKDC	P78527	GPS

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of NHEJ1_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of NHEJ1_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
XRCC4_HUMAN	XRCC4	physical	17567543
DNLI4_HUMAN	LIG4	physical	17567543

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 611291: Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.