DCLRE1C
entrez
64421
canonical
uniprot
Q96SD1
canonical
ensembl
ENSG00000152457
resolver
ensp
ENSP00000367527
resolver
ensp
ENSP00000513066
resolver
ensp
ENSP00000513087
resolver
ensp
ENSP00000513091
resolver
ensp
ENSP00000645792
resolver
ensp
ENSP00000704567
resolver
enst
ENST00000697047
resolver
enst
ENST00000697072
resolver
enst
ENST00000697076
resolver
genesymbol
DCLRE1C
resolver
genesymbol_syn
ARTEMIS
resolver
genesymbol_syn
ASCID
resolver
genesymbol_syn
SCIDA
resolver
genesymbol_syn
SNM1C
resolver
hgnc
HGNC:17642
resolver
uniprot
A0A8V8TKN9
resolver
uniprot
A0A8V8TLX1
resolver
uniprot
B3KMX5
resolver
uniprot
D3DRT6
resolver
uniprot
Q1HCL2
resolver
uniprot
Q5JSR4
resolver
uniprot
Q5JSR5
resolver
uniprot
Q5JSR7
resolver
uniprot
Q5JSR8
resolver
uniprot
Q5JSR9
resolver
uniprot
Q5JSS0
resolver
uniprot
Q5JSS7
resolver
uniprot
Q6PK14
resolver
uniprot
Q8N101
resolver
uniprot
Q8N132
resolver
uniprot
Q8TBW9
resolver
uniprot
Q9BVW9
resolver
uniprot
Q9HAM4
resolver
uniprot_entry
A0A8V8TKN9_HUMAN
resolver
uniprot_entry
A0A8V8TLX1_HUMAN
resolver
uniprot_entry
B3KMX5_HUMAN
resolver
uniprot_entry
DCR1C_HUMAN
resolver
uniprot_sec
D3DRT6
resolver
uniprot_sec
Q1HCL2
resolver
uniprot_sec
Q5JSR4
resolver
uniprot_sec
Q5JSR5
resolver
uniprot_sec
Q5JSR7
resolver
uniprot_sec
Q5JSR8
resolver
uniprot_sec
Q5JSR9
resolver
uniprot_sec
Q5JSS0
resolver
uniprot_sec
Q5JSS7
resolver
uniprot_sec
Q6PK14
resolver
uniprot_sec
Q8N101
resolver
uniprot_sec
Q8N132
resolver
uniprot_sec
Q8TBW9
resolver
uniprot_sec
Q9BVW9
resolver
uniprot_sec
Q9HAM4
resolver
amino_acid_sequence
MSSFEGQMAEYPTISIDRFDRENLRARAYFLSHCHKDHMKGLRAPTLKRRLECSLKVYLYCSPVTKELLLTSPKYRFWKKRIISIEIETPTQISLVDEASGEKEEIVVTLLPAGHCPGSVMFLFQGNNGTVLYTGDFRLAQGEAARMELLHSGGRVKDIQSVYLDTTFCDPRFYQIPSREECLSGVLELVRSWITRSPYHVVWLNCKAAYGYEYLFTNLSEELGVQVHVNKLDMFRNMPEILHHLTTDRNTQIHACRHPKAEEYFQWSKLPCGITSRNRIPLHIISIKPSTMWFGERSRKTNVIVRTGESSYRACFSFHSSYSEIKDFLSYLCPVNAYPNVIPVGTTMDKVVEILKPLCRSSQSTEPKYKPLGKLKRARTVHRDSEEEDDYLFDDPLPIPLRHKVPYPETFHPEVFSMTAVSEKQPEKLRQTPGCCRAECMQSSRFTNFVDCEESNSESEEEVGIPASLQGDLGSVLHLQKADGDVPQWEVFFKRNDEITDESLENFPSSTVAGGSQSPKLFSDSDGESTHISSQNSSQSTHITEQGSQGWDSQSDTVLLSSQERNSGDITSLDKADYRPTIKENIPASLMEQNVICPKDTYSDLKSRDKDVTIVPSTGEPTTLSSETHIPEEKSLLNLSTNADSQSSSDFEVPSTPEAELPKREHLQYLYEKLATGESIAVKKRKCSLLDT
uniprot
proteins
disease_involvement
DISEASE: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]: A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. {ECO:0000269|PubMed:11336668, ECO:0000269|PubMed:12406895, ECO:0000269|PubMed:12569164, ECO:0000269|PubMed:12592555, ECO:0000269|PubMed:12921762}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Severe combined immunodeficiency Athabaskan type (SCIDA) [MIM:602450]: A variety of SCID with sensitivity to ionizing radiation. A founder mutation has been detected in Athabascan-speaking native Americans, being inherited as an autosomal recessive trait. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. {ECO:0000269|PubMed:12055248}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Omenn syndrome (OS) [MIM:603554]: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269|PubMed:15731174}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: Nuclease involved in DNA non-homologous end joining (NHEJ); required for double-strand break repair and V(D)J recombination (PubMed:11336668, PubMed:11955432, PubMed:12055248, PubMed:14744996, PubMed:15071507, PubMed:15574326, PubMed:15936993). Required for V(D)J recombination, the process by which exons encoding the antigen-binding domains of immunoglobulins and T-cell receptor proteins are assembled from individual V, (D), and J gene segments (PubMed:11336668, PubMed:11955432, PubMed:14744996). V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs) (PubMed:11336668, PubMed:11955432, PubMed:14744996). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends (PubMed:11336668, PubMed:11955432, PubMed:14744996). These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively (PubMed:11336668, PubMed:11955432, PubMed:14744996). This protein exhibits single-strand specific 5'-3' exonuclease activity in isolation and acquires endonucleolytic activity on 5' and 3' hairpins and overhangs when in a complex with PRKDC (PubMed:11955432, PubMed:15071507, PubMed:15574326, PubMed:15936993). The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint (PubMed:11955432). Also required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ (PubMed:15456891, PubMed:15468306, PubMed:15574327, PubMed:15811628). {ECO:0000269|PubMed:11336668, ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:12055248, ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507, ECO:0000269|PubMed:15456891, ECO:0000269|PubMed:15468306, ECO:0000269|PubMed:15574326, ECO:0000269|PubMed:15574327, ECO:0000269|PubMed:15811628, ECO:0000269|PubMed:15936993}.
uniprot
proteins
mass_dalton
78436
uniprot
proteins
mutagenesis
MUTAGEN 17; /note="D->N,A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 33; /note="H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 35; /note="H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 37; /note="D->N,A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507, ECO:0000269|PubMed:15574327"; MUTAGEN 38; /note="H->A: Reduces PRKDC-dependent endonuclease activity, although V(D)J recombination is largely normal."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 115; /note="H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 136; /note="D->N,A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 165; /note="D->N,A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 319; /note="H->A: Abolishes PRKDC-dependent endonuclease activity and V(D)J recombination."; /evidence="ECO:0000269|PubMed:14744996, ECO:0000269|PubMed:15071507"; MUTAGEN 516; /note="S->A: Reduced IR induced phosphorylation; when associated with A-534; A-538; A-548; A-553; A-561 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 534; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-538; A-548; A-553; A-561 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 538; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-548; A-553; A-561 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 548; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-553; A-561 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 553; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-561 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 561; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-562."; /evidence="ECO:0000269|PubMed:15468306"; MUTAGEN 562; /note="S->A: Reduced IR induced phosphorylation; when associated with A-516; A-534; A-538; A-548; A-553 and A-561."; /evidence="ECO:0000269|PubMed:15468306
uniprot
proteins
post_translational_modification
PTM: Phosphorylation on undefined residues by PRKDC may stimulate endonucleolytic activity on 5' and 3' hairpins and overhangs. PRKDC must remain present, even after phosphorylation, for efficient hairpin opening. Also phosphorylated by ATM in response to ionizing radiation (IR) and by ATR in response to ultraviolet (UV) radiation. {ECO:0000269|PubMed:11955432, ECO:0000269|PubMed:15071507, ECO:0000269|PubMed:15456891, ECO:0000269|PubMed:15468306, ECO:0000269|PubMed:15574327, ECO:0000269|PubMed:15723659, ECO:0000269|PubMed:15811628}.
uniprot
proteins
protein_family
DNA repair metallo-beta-lactamase (DRMBL) family
uniprot
proteins
pubmed
11336668
uniprot
proteins
pubmed
11955432
uniprot
proteins
pubmed
12055248
uniprot
proteins
pubmed
12177301
uniprot
proteins
pubmed
12406895
uniprot
proteins
pubmed
12569164
uniprot
proteins
pubmed
12592555
uniprot
proteins
pubmed
12921762
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14744996
uniprot
proteins
pubmed
15071507
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15456891
uniprot
proteins
pubmed
15468306
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15574326
uniprot
proteins
pubmed
15574327
uniprot
proteins
pubmed
15723659
uniprot
proteins
pubmed
15731174
uniprot
proteins
pubmed
15811628
uniprot
proteins
pubmed
15936993
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23219551
uniprot
proteins
pubmed
23523427
uniprot
proteins
sequence_length
692
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12055248, ECO:0000269|PubMed:15071507}.
uniprot
proteins