DegronMD - Q9H9Q4(NHEJ1)

FUNCTION: DNA repair protein involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination (PubMed:16439204, PubMed:16439205, PubMed:17717001, PubMed:17317666, PubMed:17470781, PubMed:18644470, PubMed:20558749, PubMed:26100018, PubMed:18158905). Plays a key role in NHEJ by promoting the ligation of various mismatched and non-cohesive ends (PubMed:17717001, PubMed:17470781, PubMed:19056826). Together with PAXX, collaborates with DNA polymerase lambda (POLL) to promote joining of non-cohesive DNA ends (PubMed:30250067, PubMed:25670504). May act in concert with XRCC5-XRCC6 (Ku) to stimulate XRCC4-mediated joining of blunt ends and several types of mismatched ends that are non-complementary or partially complementary (PubMed:16439204, PubMed:16439205, PubMed:17317666, PubMed:17470781). Associates with XRCC4 to form alternating helical filaments that bridge DNA and act like a bandage, holding together the broken DNA until it is repaired (PubMed:22228831, PubMed:26100018, PubMed:28500754, PubMed:27437582, PubMed:21775435, PubMed:22287571, PubMed:21768349). The XRCC4-NHEJ1/XLF subcomplex binds to the DNA fragments of a DSB in a highly diffusive manner and robustly bridges two independent DNA molecules, holding the broken DNA fragments in close proximity to one other (PubMed:28500754, PubMed:27437582). The mobility of the bridges ensures that the ends remain accessible for further processing by other repair factors (PubMed:27437582). Binds DNA in a length-dependent manner (PubMed:17317666, PubMed:18158905). {ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205, ECO:0000269|PubMed:17317666, ECO:0000269|PubMed:17470781, ECO:0000269|PubMed:17717001, ECO:0000269|PubMed:18158905, ECO:0000269|PubMed:18644470, ECO:0000269|PubMed:19056826, ECO:0000269|PubMed:20558749, ECO:0000269|PubMed:21768349, ECO:0000269|PubMed:21775435, ECO:0000269|PubMed:22228831, ECO:0000269|PubMed:22287571, ECO:0000269|PubMed:25670504, ECO:0000269|PubMed:26100018, ECO:0000269|PubMed:27437582, ECO:0000269|PubMed:28500754, ECO:0000269|PubMed:30250067}. View more >>

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GO - Molecular function (MF): View more >>

GO - Cellular component (CC): View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.R295S	TCGA-A5-A1OF	UCEC	TCGA	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation rewiring degron network	0.1944
p.R295S	DO42568	UCEC	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation rewiring degron network	0.1944
p.K293M	TCGA-BF-A5ES	SKCM	TCGA	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation substituting flanking lysine	0.3611
p.K293M	DO219456	SKCM	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation substituting flanking lysine	0.3611
p.L286M	DO229029	LICA	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation altering degron motif	0.711
p.L297I	DO229037	LICA	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation rewiring degron network	0.1389
p.L297F	DO220886	MELA	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation rewiring degron network	0.1389
p.S282N	DO38743	STAD	ICGC	QRPQLSKVK	DEG_APCC_DBOX_1	282:290	Mutation altering degron motif	0.7069

DegronMD: protein-targeted degradation, mutation and drug response to degrons

NHEJ1

UniProt ID: Q9H9Q4

Entrez ID: 79840

Protein name: Non-homologous end-joining factor 1 (Protein cernunnos) (XRCC4-like factor)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for NHEJ1 in