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: 86.32   (req: < 5)

Gene RIFs: 61   (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: 86.32   (req: >= 5)

Gene RIFs: 61   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (141)

Explore Interacting Targets

1 – 10 of 141

• See Interactions on String-DB

JAKMIP1

Tbio

Family:  Enzyme

Novelty:  0.09039444

p_int:  0.999999994

p_wrong:  6e-9

Data Source:  BioPlex

ZSWIM8

Tdark

Novelty:  0.26740136

p_int:  0.999999704

p_ni:  2.96e-7

Score:  0.2

Data Source:  BioPlex,STRINGDB

TRIM26

Tbio

Novelty:  0.07177119

p_int:  0.999998438

p_ni:  0.000001562

Score:  0.159

Data Source:  BioPlex,STRINGDB

PRKAG2

Tchem

Family:  Enzyme

Novelty:  0.00741608

p_int:  0.999993833

p_ni:  0.000006167

Score:  0.813

Data Source:  BioPlex,STRINGDB

ANKRD52

Tbio

Family:  Enzyme

Novelty:  0.14147652

p_int:  0.999990694

p_ni:  0.000009306

Score:  0.307

Data Source:  BioPlex,STRINGDB

PRKAB2

Tchem

Family:  Enzyme

Novelty:  0.02815065

p_int:  0.999974159

p_ni:  0.000025545

p_wrong:  2.96e-7

Score:  0.699

Data Source:  BioPlex,STRINGDB

PRKAB1

Tchem

Family:  Kinase

Novelty:  0.01610606

p_int:  0.999459195

p_ni:  0.0005408

p_wrong:  6e-9

Score:  0.747

Data Source:  BioPlex,STRINGDB

PRKAA2

Tchem

Family:  Kinase

Novelty:  0.01795523

p_int:  0.999243183

p_ni:  0.000756817

p_wrong:  1e-9

Score:  0.833

Data Source:  BioPlex,STRINGDB

SPATA20

Tdark

Novelty:  0.34126403

p_int:  0.997995514

p_ni:  0.002004486

Score:  0.183

Data Source:  BioPlex,STRINGDB

PRKAA1

Tclin

Family:  Kinase

Novelty:  0.01205826

p_int:  0.983221593

p_ni:  0.016777646

p_wrong:  7.62e-7

Score:  0.696

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (11)

Reactome (3)

KEGG (2)

PathwayCommons (2)

WikiPathways (4)

DNA Double-Strand Break Repair (R-HSA-5693532)

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1 – 3 of 3

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	Nonhomologous End-Joining (NHEJ)	50 targets	R-HSA-5693571

Name	Explore in Pharos	Explore in Source
DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
DNA Repair	306 targets	R-HSA-73894
Nonhomologous End-Joining (NHEJ)	50 targets	R-HSA-5693571

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (16)

Functions (5)

Components (4)

Processes (7)

Find Similar Targets

Items per page:

10

1 – 5 of 5

GO Term	Evidence	Assigned by
5'-3' exonuclease activity	Inferred from Direct Assay (IDA)	MGI
single-stranded DNA endodeoxyribonuclease activity	Inferred from Direct Assay (IDA)	MGI
5'-3' exodeoxyribonuclease activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
damaged DNA binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
endonuclease activity	Traceable Author Statement (TAS)	Reactome

Disease Associations ()

No disease associations found

GWAS Traits (1)

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1 – 1 of 1

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	2	2	2		63

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
lymphocyte count	EFO_0004587	2		63

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Adaptive immunity
Alternative splicing
Complete proteome
Disease mutation
DNA damage
DNA recombination
DNA repair
Endonuclease
Exonuclease

GWAS Trait Find Similar Targets

No Header	No Header
lymphocyte count

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
immune system phenotype

IDG Resources

No IDG generated resources found

Orthologs (8)

1 – 5 of 8

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	DNA cross-link repair 1C		697493
Mouse	DNA cross-link repair 1C	MGI:2441769	227525
Dog	DNA cross-link repair 1C	VGNC:52124	487123
Horse	DNA cross-link repair 1C		100056337
Opossum	DNA cross-link repair 1C		100014840

Species	Name	OMA	EggNOG	Inparanoid
Macaque	DNA cross-link repair 1C
Mouse	DNA cross-link repair 1C
Dog	DNA cross-link repair 1C
Horse	DNA cross-link repair 1C
Opossum	DNA cross-link repair 1C

Publication Statistics

PubMed Score 86.32

PubMed score by year

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PubTator Score 37.56

PubTator score by year

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Related Publications

Text Mined References (84)

GeneRif Annotations (61)

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0 of 0

PMID	Year	Title