Tbio DCLRE1C Protein artemis

Protein Summary

Description

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. This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Accession IDs

• Q96SD1
• D3DRT6
• Q1HCL2
• Q5JSR4
• Q5JSR5
• Q5JSR7
• Q5JSR8
• Q5JSR9
• Q5JSS0
• Q5JSS7
• Q6PK14
• Q8N101
• Q8N132
• Q8TBW9
• Q9BVW9
• Q9HAM4

Gene Name

• DCLRE1C

Ensembl ID

• ENST00000357717
• ENSP00000350349
• ENSG00000152457
• ENST00000378246
• ENSP00000367492
• ENST00000378249
• ENSP00000367496
• ENST00000378254
• ENSP00000367502
• ENST00000378255
• ENSP00000367503
• ENST00000378258
• ENSP00000367506
• ENST00000378278
• ENSP00000367527
• ENST00000378289
• ENSP00000367538
• ENST00000396817
• ENSP00000380030

Symbol

• ARTEMIS
• ASCID
• SCIDA
• SNM1C
• SCIDA
• SNM1C
• A-SCID
• RS-SCID
• DCLREC1C

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
virus perturbation	0.97
transcription factor binding site profile	0.77
biological term	0.67
phenotype	0.61
cell line	0.6

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.96   (req: < 5)

Gene RIFs: 69   (req: <= 3)

Antibodies: 331   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 59.96   (req: >= 5)

Gene RIFs: 69   (req: > 3)

Antibodies: 331   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0