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Protein Page:
Artemis (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitination
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

Overview
Artemis 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. V(D)J recombination is initiated by the lymphoid specific RAG endonuclease complex, which generates site specific DNA double strand breaks (DSBs). These DSBs present two types of DNA end structures: hairpin sealed coding ends and phosphorylated blunt signal ends. These ends are independently repaired by the non homologous end joining (NHEJ) pathway to form coding and signal joints respectively. 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. The latter activity is required specifically for the resolution of closed hairpins prior to the formation of the coding joint. May also be required for the repair of complex DSBs induced by ionizing radiation, which require substantial end-processing prior to religation by NHEJ. Defects in DCLRE1C are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell- negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID). SCID refers to 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 with SCID 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. Defects in DCLRE1C are the cause of severe combined immunodeficiency Athabaskan type (SCIDA). SCIDA is a variety of RS-SCID caused by a founder mutation in Athabascan- speaking native Americans, being inherited as an autosomal recessive trait with an estimated gene frequency of 2.1% in the Navajo population. Affected individuals exhibit clinical symptoms and defects in DNA repair comparable to those seen in RS-SCID. Defects in DCLRE1C are a cause of Omenn syndrome (OS). OS is characterized by severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy and alopecia. Affected individuals have elevated T-lymphocyte counts with a restricted T- cell receptor (TCR) repertoire. They also generally lack B- lymphocytes, but have normal natural killer (NK) cell function (T+ B- NK+). Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; EC 3.1.-.-; Deoxyribonuclease
Cellular Component: nucleus
Molecular Function: 5'-3' exonuclease activity; single-stranded DNA specific endodeoxyribonuclease activity
Biological Process: B cell differentiation; double-strand break repair; response to ionizing radiation; telomere maintenance; DNA catabolic process, endonucleolytic; DNA recombination
Reference #:  Q96SD1 (UniProtKB)
Alt. Names/Synonyms: A-SCID; A-SCID protein; ARTEMIS; artemis protein; ASCID; DCLRE1C; DCLREC1C; DCR1C; DNA cross-link repair 1C protein; FLJ11360; FLJ36438; hSNM1C; Protein artemis; RS-SCID; SCIDA; severe combined immunodeficiency, type a (Athabascan); SNM1 homolog C; SNM1-like protein; SNM1C
Gene Symbols: DCLRE1C
Molecular weight: 78,436 Da
Basal Isoelectric point: 5.69  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

Artemis

Protein Structure Not Found.


STRING  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene


Sites Implicated In
cell cycle regulation: S516‑p, S645‑p
intracellular localization: S516‑p, S645‑p
molecular association, regulation: S516‑p, S645‑p
ubiquitination: S516‑p, S645‑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
 

Show Multiple Sequence Alignment


 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 S3 _____MSSFEGQMAE
0 1 T13 GQMAEYPTISIDRFD
0 1 S15 MAEYPTISIDRFDRE
0 10 Y264-p RHPKAEEyFQWSKLP
0 1 S317-p SSYRACFsFHSSySE
0 1 Y322-p CFsFHSSySEIKDFL
0 3 T380-p GKLKRARtVHRDsEE
0 4 S385-p ARtVHRDsEEEDDYL
0 1 K494-ac PQWEVFFkRNDEITD
1 0 S503-p NDEITDEsLENFPSS
8 3 S516-p SSTVAGGsQSPKLFS
0 1 S518 TVAGGsQSPKLFSDS
2 1 S534-p GESTHISsQNSsQST
2 1 S538-p HISsQNSsQSTHITE
1 0 S548-p THITEQGsQGWDsQS
1 0 S553-p QGsQGWDsQSDTVLL
0 1 S607-p DTYSDLKsRDKDVtI
0 1 T613-p KsRDKDVtIVPSTGE
0 1 S625-p TGEPTTLssETHIPE
0 1 S626-p GEPTTLssETHIPEE
5 1 S645-p NLSTNADsQSSSDFE
0 1 T676-p YLYEKLAtGESIAVk
0 1 K683-ac tGESIAVkKRKCsLL
0 2 S688-p AVkKRKCsLLDt___
0 1 T692-p RKCsLLDt_______
  mouse

► Hide Isoforms
 
S3 _____MSSFQGQMAE
T13 GQMAEYPTISIDRFD
S15 MAEYPTISIDRFDRE
C264 RHPKAEECFQWNKLP
S317 SSYRACFSFHSSFSE
F322 CFSFHSSFSEIKDFL
T380-p GKLKRARtIHLDsEE
S385-p ARtIHLDsEEDDDLF
K496 PQWEVFFKRRDEITG
C505 RDEITGECLEHLPSS
S518-p SSIETGGsQsPKLCS
S520-p IETGGsQsPKLCSDS
S550 GDSTHISSQNSSQST
S554 HISSQNSSQSTHITD
S564 THITDQGSQGWDSQC
S569 QGSQGWDSQCDTVLL
S623 DTHCDLKSRAEVNGA
N628 LKSRAEVNGAPCLVE
S640 LVELDTLSGRKSPPE
G641 VELDTLSGRKSPPEK
S658 LSSTRADSQSSSDFE
T689 CLYRKLATGQSIVVE
E696 TGQSIVVEKRKCSLL
S701 VVEKRKCSLLDS___
S705 RKCSLLDS_______
  Artemis iso2  
S3 _____MSSFQGQMAE
T13 GQMAEYPTISIDRFD
S15 MAEYPTISIDRFDRE
C264 RHPKAEECFQWNKLP
S317 SSYRACFSFHSSFSE
F322 CFSFHSSFSEIKDFL
T380 GKLKRARTIHLDSEE
S385 ARTIHLDSEEDDDLF
K496 PQWEVFFKRRDEITV
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
- gap
  rat

 
S3-p _____MSsFQGQMEE
T13-p GQMEEYPtIsIDRFD
S15-p MEEYPtIsIDRFDRE
Y264 RHPKAEEYFQWNKLP
S317 SSYRACFSFHSSYSE
Y322 CFSFHSSYSEIKDFL
T380 GKLKRARTVHLDsEE
S385-p ARTVHLDsEEDDDLF
K495 PRWEVFFKRKDEITD
C504 KDEITDECLENLPSS
S517 SSIETGGSQSPKRFS
S519 IETGGSQSPKRFSDS
S542 GESTHISSQNSSQST
S546 HISSQNSSQSTHITD
S556 THITDQGSQGWDSQC
S561 QGSQGWDSQCDTVLL
S615 DTHCDLKSGAEVNGV
N620 LKSGAEVNGVPCIEE
S632 IEEPDTVSGRKSSPE
G633 EEPDTVSGRKSSPEK
S650 LTSTQADSQSSSDFE
T681 FLYGKLATGESIVLK
K688 TGESIVLKKENVHSQ
S694 LKKENVHSQIFK___
- gap
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