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Aliases for DCLRE1C Gene

Aliases for DCLRE1C Gene

  • DNA Cross-Link Repair 1C 2 3 5
  • DNA Cross-Link Repair 1C (PSO2 Homolog, S. Cerevisiae) 2 3
  • Severe Combined Immunodeficiency, Type A (Athabascan) 2 3
  • SNM1-Like Protein 3 4
  • SNM1 Homolog C 3 4
  • SCIDA 3 4
  • SNM1C 3 4
  • DNA Cross-Link Repair 1C Protein 4
  • PSO2 Homolog (S. Cerevisiae) 2
  • Protein Artemis 3
  • Protein A-SCID 4
  • EC 3.1.-.- 4
  • DCLREC1C 3
  • RS-SCID 3
  • ARTEMIS 4
  • A-SCID 3
  • HSNM1C 4
  • ASCID 4

External Ids for DCLRE1C Gene

Previous HGNC Symbols for DCLRE1C Gene

  • SCIDA

Previous GeneCards Identifiers for DCLRE1C Gene

  • GC10M014923
  • GC10M015090
  • GC10M014944
  • GC10M014953
  • GC10M014980
  • GC10M014859
  • GC10M014939

Summaries for DCLRE1C Gene

Entrez Gene Summary for DCLRE1C Gene

  • 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]

GeneCards Summary for DCLRE1C Gene

DCLRE1C (DNA Cross-Link Repair 1C) is a Protein Coding gene. Diseases associated with DCLRE1C include Severe Combined Immunodeficiency, Athabascan Type and Omenn Syndrome. Among its related pathways are DNA Double Strand Break Response and DNA Double-Strand Break Repair. GO annotations related to this gene include 5-3 exonuclease activity and single-stranded DNA endodeoxyribonuclease activity. An important paralog of this gene is DCLRE1B.

UniProtKB/Swiss-Prot for DCLRE1C Gene

  • 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.

Gene Wiki entry for DCLRE1C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCLRE1C Gene

Genomics for DCLRE1C Gene

Regulatory Elements for DCLRE1C Gene

Enhancers for DCLRE1C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F014875 1.1 ENCODE 6.1 +76.3 76289 5.0 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 HSPA14 GAPDHP45 LOC105376429 CDNF LOC101928453 DCLRE1C ENSG00000272853 LOC100421372
GH10F014958 1.1 ENCODE 5.4 -5.7 -5652 2.5 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 SIN3A DMAP1 ZNF2 YY1 ZNF143 SUV39H2 HSPA14 CDNF DCLRE1C GC10M014933 LOC105376430
GH10F014582 1.6 FANTOM5 Ensembl ENCODE 2.3 +368.1 368142 8.6 ELF3 PKNOX1 WRNIP1 SIN3A BMI1 RAD21 RARA RFX5 ZNF121 EGR1 HSPA14 CDNF FAM107B DCLRE1C GC10M014524 LOC105376429
GH10F014549 1.8 FANTOM5 Ensembl ENCODE 1.2 +392.5 392534 25.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 YBX1 ZNF2 YY1 CBX5 ZNF548 HSPA14 FAM107B LOC105376429 PRPF18 CDNF ENSG00000273474 ENSG00000272853 DCLRE1C GC10M014524
GH10F014647 1.6 FANTOM5 Ensembl ENCODE 1.3 +305.8 305791 3.1 HDGF PKNOX1 TBL1XR1 FEZF1 BMI1 ZBTB40 RFX5 ZNF121 EGR1 CBX5 FAM107B C10orf111 HSPA14 CDNF DCLRE1C RPP38 LOC105376429 GC10M014524
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCLRE1C on UCSC Golden Path with GeneCards custom track

Promoters for DCLRE1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000351201 532 2201 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for DCLRE1C Gene

Chromosome:
10
Start:
14,897,359 bp from pter
End:
14,954,432 bp from pter
Size:
57,074 bases
Orientation:
Minus strand

Genomic View for DCLRE1C Gene

Genes around DCLRE1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCLRE1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCLRE1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCLRE1C Gene

Proteins for DCLRE1C Gene

  • Protein details for DCLRE1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96SD1-DCR1C_HUMAN
    Recommended name:
    Protein artemis
    Protein Accession:
    Q96SD1
    Secondary Accessions:
    • D3DRT6
    • Q1HCL2
    • Q5JSR4
    • Q5JSR5
    • Q5JSR7
    • Q5JSR8
    • Q5JSR9
    • Q5JSS0
    • Q5JSS7
    • Q6PK14
    • Q8N101
    • Q8N132
    • Q8TBW9
    • Q9BVW9
    • Q9HAM4

    Protein attributes for DCLRE1C Gene

    Size:
    692 amino acids
    Molecular mass:
    78436 Da
    Quaternary structure:
    • Interacts with ATM, BRCA1, PRKDC and TP53BP1. Also exhibits ATM- and phosphorylation-dependent interaction with the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN.
    SequenceCaution:
    • Sequence=CAI40018.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40019.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40021.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40023.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCLRE1C Gene

    Alternative splice isoforms for DCLRE1C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCLRE1C Gene

Post-translational modifications for DCLRE1C Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DCLRE1C Gene

Domains & Families for DCLRE1C Gene

Protein Domains for DCLRE1C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCLRE1C Gene

Graphical View of Domain Structure for InterPro Entry

Q96SD1

UniProtKB/Swiss-Prot:

DCR1C_HUMAN :
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
Family:
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
genes like me logo Genes that share domains with DCLRE1C: view

No data available for Gene Families for DCLRE1C Gene

Function for DCLRE1C Gene

Molecular function for DCLRE1C Gene

UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for DCLRE1C Gene

Gene Ontology (GO) - Molecular Function for DCLRE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IDA 11955432
GO:0003684 damaged DNA binding IBA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity TAS --
GO:0004527 exonuclease activity IEA --
genes like me logo Genes that share ontologies with DCLRE1C: view
genes like me logo Genes that share phenotypes with DCLRE1C: view

Human Phenotype Ontology for DCLRE1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DCLRE1C Gene

MGI Knock Outs for DCLRE1C:

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DCLRE1C Gene

Localization for DCLRE1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCLRE1C Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCLRE1C gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for DCLRE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0070419 nonhomologous end joining complex IDA 25941166
genes like me logo Genes that share ontologies with DCLRE1C: view

Pathways & Interactions for DCLRE1C Gene

genes like me logo Genes that share pathways with DCLRE1C: view

Pathways by source for DCLRE1C Gene

2 Cell Signaling Technology pathways for DCLRE1C Gene
2 KEGG pathways for DCLRE1C Gene
1 GeneGo (Thomson Reuters) pathway for DCLRE1C Gene

SIGNOR curated interactions for DCLRE1C Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DCLRE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006281 DNA repair IEA --
GO:0006302 double-strand break repair IEA --
genes like me logo Genes that share ontologies with DCLRE1C: view

Drugs & Compounds for DCLRE1C Gene

(3) Drugs for DCLRE1C Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with DCLRE1C: view

Transcripts for DCLRE1C Gene

Unigene Clusters for DCLRE1C Gene

DNA cross-link repair 1C:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1C Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - - -
SP11: - - -
SP12: -
SP13: - -
SP14: - - - - -
SP15: -

Relevant External Links for DCLRE1C Gene

GeneLoc Exon Structure for
DCLRE1C
ECgene alternative splicing isoforms for
DCLRE1C

Expression for DCLRE1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCLRE1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCLRE1C Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.3), Adipocyte (19.1), and Blymphocyte (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DCLRE1C Gene



Protein tissue co-expression partners for DCLRE1C Gene

NURSA nuclear receptor signaling pathways regulating expression of DCLRE1C Gene:

DCLRE1C

SOURCE GeneReport for Unigene cluster for DCLRE1C Gene:

Hs.656065

mRNA Expression by UniProt/SwissProt for DCLRE1C Gene:

Q96SD1-DCR1C_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in the kidney, lung, pancreas and placenta (at the mRNA level). Expression is not increased in thymus or bone marrow, sites of V(D)J recombination.
genes like me logo Genes that share expression patterns with DCLRE1C: view

Primer Products

No data available for mRNA differential expression in normal tissues for DCLRE1C Gene

Orthologs for DCLRE1C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DCLRE1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCLRE1C 34 35
  • 99.08 (n)
dog
(Canis familiaris)
Mammalia DCLRE1C 34 35
  • 86.93 (n)
cow
(Bos Taurus)
Mammalia DCLRE1C 34 35
  • 85.3 (n)
rat
(Rattus norvegicus)
Mammalia Dclre1c 34
  • 81.98 (n)
mouse
(Mus musculus)
Mammalia Dclre1c 16 35 34
  • 81.95 (n)
oppossum
(Monodelphis domestica)
Mammalia DCLRE1C 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1C 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCLRE1C 34 35
  • 68.06 (n)
lizard
(Anolis carolinensis)
Reptilia DCLRE1C 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dclre1c 34
  • 65.25 (n)
zebrafish
(Danio rerio)
Actinopterygii dclre1c 34 35
  • 60.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000597 34
  • 42.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Snm1 35
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 35
  • 13 (a)
OneToMany
Species where no ortholog for DCLRE1C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCLRE1C Gene

ENSEMBL:
Gene Tree for DCLRE1C (if available)
TreeFam:
Gene Tree for DCLRE1C (if available)

Paralogs for DCLRE1C Gene

Paralogs for DCLRE1C Gene

Pseudogenes.org Pseudogenes for DCLRE1C Gene

genes like me logo Genes that share paralogs with DCLRE1C: view

Variants for DCLRE1C Gene

Sequence variations from dbSNP and Humsavar for DCLRE1C Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121908159 Omenn syndrome (OS) [MIM:603554], Pathogenic 14,953,908(-) ACTGC(C/G)ACAAA nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_023078 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
VAR_023079 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450]
rs121908156 Pathogenic 14,945,110(-) AGAAA(A/C/T)GAATT intron-variant, nc-transcript-variant, reference, synonymous-codon, stop-gained, utr-variant-5-prime
rs121908157 Pathogenic 14,934,461(-) CCGTA(A/C)CATGT nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for DCLRE1C Gene

Variant ID Type Subtype PubMed ID
nsv831793 CNV loss 17160897
nsv825256 CNV gain 20364138
nsv550007 CNV gain+loss 21841781
nsv520429 CNV gain+loss 19592680
nsv470922 CNV gain 18288195
nsv469720 CNV gain 16826518
nsv466753 CNV loss 19166990
nsv435909 CNV deletion 17901297
nsv1045188 CNV loss 25217958
nsv1037136 CNV gain+loss 25217958
esv3891763 CNV gain 25118596
esv3545940 CNV deletion 23714750
esv2760142 CNV gain 21179565
esv2733506 CNV deletion 23290073
esv2733495 CNV deletion 23290073
esv2664084 CNV deletion 23128226
dgv963n54 CNV loss 21841781
dgv962n54 CNV gain 21841781
dgv961n54 CNV gain 21841781
dgv69n27 CNV gain 19166990
dgv68n27 CNV gain 19166990
dgv678n100 CNV gain 25217958
dgv178e212 CNV gain 25503493

Variation tolerance for DCLRE1C Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.48; 85.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCLRE1C Gene

Human Gene Mutation Database (HGMD)
DCLRE1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCLRE1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCLRE1C Gene

Disorders for DCLRE1C Gene

MalaCards: The human disease database

(9) MalaCards diseases for DCLRE1C Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, athabascan type
  • severe combined immunodeficiency with sensitivity to ionizing radiation
omenn syndrome
  • combined immunodeficiency with hypereosinophilia
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
artemis deficiency
conjunctival degeneration
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DCR1C_HUMAN
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for DCLRE1C

Genetic Association Database (GAD)
DCLRE1C
Human Genome Epidemiology (HuGE) Navigator
DCLRE1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DCLRE1C
genes like me logo Genes that share disorders with DCLRE1C: view

No data available for Genatlas for DCLRE1C Gene

Publications for DCLRE1C Gene

  1. Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. (PMID: 15811628) Wang J. … Yannone S.M. (DNA Repair 2005) 3 4 22 64
  2. The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. (PMID: 15936993) Ma Y. … Lieber M.R. (DNA Repair 2005) 3 4 22 64
  3. Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (PMID: 15723659) Chen L. … Mizutani S. (Cancer Sci. 2005) 3 4 22 64
  4. Omenn syndrome due to ARTEMIS mutations. (PMID: 15731174) Ege M. … Pannicke U. (Blood 2005) 3 4 22 64
  5. The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination. (PMID: 14744996) Poinsignon C. … de Villartay J.-P. (J. Exp. Med. 2004) 3 4 22 64

Products for DCLRE1C Gene

Sources for DCLRE1C Gene

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