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Aliases for DCLRE1C Gene

Aliases for DCLRE1C Gene

  • DNA Cross-Link Repair 1C 2 3
  • SCIDA 3 4 6
  • 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
  • ARTEMIS 4 6
  • 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
  • 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 severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive. Among its related pathways are Non-homologous end-joining and Primary immunodeficiency. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DCLRE1C Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DCLRE1C Gene at MOPED

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DCLRE1C (Artemis)

No data available for DME Specific Peptides for DCLRE1C Gene

Domains 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 :
  • Q96SD1
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:0008409 5-3 exonuclease activity IDA 11955432
genes like me logo Genes that share ontologies with DCLRE1C: view

Phenotypes for DCLRE1C Gene

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

Animal Models for DCLRE1C Gene

MGI Knock Outs for DCLRE1C:

Animal Model Products

CRISPR Products

miRNA for DCLRE1C Gene

miRTarBase miRNAs that target DCLRE1C

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

Localization for DCLRE1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCLRE1C Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DCLRE1C Gene COMPARTMENTS Subcellular localization image for DCLRE1C gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DCLRE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with DCLRE1C: view

Pathways for DCLRE1C Gene

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

Pathways by source for DCLRE1C Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for DCLRE1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA --
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006302 double-strand break repair IEA --
GO:0006310 DNA recombination --
GO:0010212 response to ionizing radiation IEA --
genes like me logo Genes that share ontologies with DCLRE1C: view

Compounds for DCLRE1C Gene

(3) Novoseek inferred chemical compound relationships for DCLRE1C Gene

Compound -log(P) Hits PubMed IDs
busulfan 31.3 1
bleomycin 30.1 2
etoposide 17.9 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DCLRE1C

Primer 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 for DCLRE1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DCLRE1C Gene

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 expressions with DCLRE1C: view

In Situ Assay 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 35
  • 99.08 (n)
  • 98.84 (a)
DCLRE1C 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DCLRE1C 35
  • 85.3 (n)
  • 83.5 (a)
DCLRE1C 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCLRE1C 35
  • 86.93 (n)
  • 84.66 (a)
DCLRE1C 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dclre1c 35
  • 81.95 (n)
  • 80.64 (a)
Dclre1c 16
Dclre1c 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCLRE1C 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1C 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dclre1c 35
  • 81.98 (n)
  • 80.41 (a)
chicken
(Gallus gallus)
Aves DCLRE1C 35
  • 68.06 (n)
  • 65.52 (a)
DCLRE1C 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCLRE1C 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dclre1c 35
  • 65.25 (n)
  • 65.81 (a)
zebrafish
(Danio rerio)
Actinopterygii dclre1c 35
  • 60.39 (n)
  • 58.51 (a)
dclre1c 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000597 35
  • 42.77 (n)
  • 36.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta Snm1 36
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 36
  • 13 (a)
OneToMany
Species with no ortholog for DCLRE1C:
  • 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 MAF
rs1010664 -- 14,923,688(-) TCGTT(A/G)ATGAT intron-variant
rs1046631 -- 14,909,114(-) CAGTG(A/T)AAGTG reference, missense, nc-transcript-variant
rs1062884 -- 14,905,631(-) TTGGA(G/T)AAGAG utr-variant-3-prime, nc-transcript-variant
rs1578643 -- 14,914,516(-) gtcaa(C/T)taggc intron-variant
rs1797056 -- 14,942,031(+) ACATT(A/C)AGAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv469720 CNV Complex 16826518
nsv831793 CNV Loss 17160897
esv2733495 CNV Deletion 23290073
esv2664084 CNV Deletion 23128226
dgv68n27 CNV Gain 19166990
nsv894891 CNV Gain+Loss 21882294
dgv69n27 CNV Gain 19166990
esv2733506 CNV Deletion 23290073
nsv435909 CNV Deletion 17901297
nsv825256 CNV Gain 20364138
dgv616n71 CNV Gain 21882294
nsv466753 CNV Loss 19166990
nsv470922 CNV Gain 18288195
nsv520429 CNV Gain+Loss 19592680

Relevant External Links for DCLRE1C Gene

HapMap Linkage Disequilibrium report
DCLRE1C
Human Gene Mutation Database (HGMD)
DCLRE1C
Locus Specific Mutation Databases (LSDB)
DCLRE1C

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

Disorders for DCLRE1C Gene

(2) OMIM Diseases for DCLRE1C Gene (605988)

UniProtKB/Swiss-Prot

DCR1C_HUMAN
  • 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.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for DCLRE1C Gene

(10) Novoseek inferred disease relationships for DCLRE1C Gene

Disease -log(P) Hits PubMed IDs
omenn syndrome 90.5 4
severe combined immunodeficiency 90.2 13
ataxia telangiectasia 67.8 3
nijmegen breakage syndrome 55.5 2
immunodeficiency 42 6

Relevant External Links for DCLRE1C

Genetic Association Database (GAD)
DCLRE1C
Human Genome Epidemiology (HuGE) Navigator
DCLRE1C
genes like me logo Genes that share disorders with DCLRE1C: view

Publications for DCLRE1C Gene

  1. The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p. (PMID: 9443881) Li L. … Cowan M.J. (Am. J. Hum. Genet. 1998) 2 3 23
  2. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. (PMID: 12406895) Noordzij J.G. … van Dongen J.J.M. (Blood 2003) 3 4 23
  3. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. (PMID: 12569164) Moshous D. … de Villartay J.-P. (J. Clin. Invest. 2003) 3 4 23
  4. Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families. (PMID: 12592555) Kobayashi N. … Komiyama A. (Hum. Genet. 2003) 3 4 23
  5. Expansion of clonotype-restricted HLA-identical maternal CD4+ T cells in a patient with severe combined immunodeficiency and a homozygous mutation in the Artemis gene. (PMID: 12921762) Kobayashi N. … Komiyama A. (Clin. Immunol. 2003) 3 4 23

Products for DCLRE1C Gene

Sources for DCLRE1C Gene

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