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DCLRE1C Gene

protein-coding   GIFtS: 61
GCID: GC10M014939

DNA Cross-Link Repair 1C

(Previous names: severe combined immunodeficiency, type a (Athabascan), DNA...)
(Previous symbol: SCIDA)
  See DCLRE1C-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DNA Cross-Link Repair 1C1 2     A-SCID2
SCIDA1 2 3 5     DCLREC1C2
DNA Cross-Link Repair 1C (PSO2 Homolog, S. Cerevisiae)1 2     RS-SCID2
Severe Combined Immunodeficiency, Type A (Athabascan)1 2     Protein Artemis2
SNM1C2 3     ASCID3
SNM1 Homolog C2 3     EC 3.1.-.-3
SNM1-Like Protein2 3     DNA Cross-Link Repair 1C Protein3
ARTEMIS3 5     hSNM1C3
PSO2 Homolog (S. Cerevisiae)1     Protein A-SCID3

External Ids:    HGNC: 176421   Entrez Gene: 644212   Ensembl: ENSG000001524577   OMIM: 6059885   UniProtKB: Q96SD13   

Export aliases for DCLRE1C gene to outside databases

Previous GC identifers: GC10M014923 GC10M015090 GC10M014944 GC10M014953 GC10M014980 GC10M014859


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 artemis deficiency. 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: DCR1C_HUMAN, Q96SD1
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

Gene Wiki entry for DCLRE1C Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DCLRE1C gene promoter:
         Pax-3   p53   Tal-1beta   ITF-2   Evi-1   FOXL1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): DCLRE1C promoter sequence
   Search Chromatin IP Primers for DCLRE1C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DCLRE1C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p13

DCLRE1C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCLRE1C gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M014939:  view genomic region     (about GC identifiers)

Start:
14,939,358 bp from pter      End:
14,996,431 bp from pter
Size:
57,074 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1 (See protein sequence)
Recommended Name: Protein artemis  
Size: 692 amino acids; 78436 Da
Subunit: 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
Sequence caution: Sequence=CAI40018.1; Type=Erroneous gene model prediction; Sequence=CAI40019.1; Type=Erroneous
gene model prediction; Sequence=CAI40021.1; Type=Erroneous gene model prediction; Sequence=CAI40023.1;
Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for DCLRE1C:
3W1B (3D)        3W1G (3D)        4HTP (3D)    
Secondary accessions: D3DRT6 Q1HCL2 Q5JSR4 Q5JSR5 Q5JSR7 Q5JSR8 Q5JSR9 Q5JSS0 Q5JSS7 Q6PK14
Q8N101 Q8N132 Q8TBW9 Q9BVW9 Q9HAM4
Alternative splicing: 4 isoforms:  Q96SD1-1   Q96SD1-2   Q96SD1-3   Q96SD1-4   

Explore the universe of human proteins at neXtProt for DCLRE1C: NX_Q96SD1

Explore proteomics data for DCLRE1C at MOPED

Post-translational modifications: 

  • 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) radiation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DCLRE1C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_001029027.1  NP_001029029.1  NP_001029030.1  NP_001276005.1  NP_001276006.1  NP_001276007.1  NP_001276008.1  NP_071932.2  

    ENSEMBL proteins: 
     ENSP00000367538   ENSP00000367492   ENSP00000350349   ENSP00000367496   ENSP00000380030  
     ENSP00000367503   ENSP00000367502   ENSP00000367527   ENSP00000367506   ENSP00000367488  
     ENSP00000391428   ENSP00000367487   ENSP00000413180   ENSP00000400529  

    DCLRE1C Human Recombinant Protein Products:

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    Novus Biologicals DCLRE1C Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DCLRE1C

     
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    Search eBioscience for ELISAs for DCLRE1C 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR011084 DRMBL
     IPR001279 Beta-lactamas-like

    Graphical View of Domain Structure for InterPro Entry Q96SD1

    ProtoNet protein and cluster: Q96SD1

    UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1
    Similarity: Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family


    Find genes that share domains with DCLRE1C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DCR1C_HUMAN, Q96SD1
    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 Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000014single-stranded DNA endodeoxyribonuclease activity IDA11955432
    GO:00084095'-3' exonuclease activity IDA11955432
         
    Find genes that share ontologies with DCLRE1C           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DCLRE1C:
     Synthetic lethal with cisplati 

         3 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Dclre1c):
     cellular  hematopoietic system  immune system 

    Find genes that share phenotypes with DCLRE1C           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for DCLRE1C: Dclre1ctm2Mcow Dclre1ctm1Fwa Dclre1ctm1.1Fwa Dclre1ctm1.1Jpdv Dclre1ctm2.2Jpdv

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DCLRE1C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DCLRE1C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DCLRE1C

    miRNA
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    miRTarBase miRNAs that target DCLRE1C:
    hsa-mir-324-3p (MIRT042846)

    Block miRNA regulation of human, mouse, rat DCLRE1C using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate DCLRE1C:
    hsa-miR-140-5p hsa-miR-3168 hsa-miR-4328 hsa-miR-29a* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidDCLRE1C 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DCLRE1C
    Predesigned siRNA for gene silencing in human, mouse, rat DCLRE1C

    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DCLRE1C
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    Addgene plasmids for DCLRE1C 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1C


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DCR1C_HUMAN, Q96SD1: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with DCLRE1C           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DCLRE1C About    
    See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.37
    DNA damage NHEJ mechanisms of DSBs repair0.37
    2Primary immunodeficiency
    Primary immunodeficiency


    Find genes that share SuperPaths with DCLRE1C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for DCLRE1C
        DNA damage NHEJ mechanisms of DSBs repair


    2 Kegg Pathways  (Kegg details for DCLRE1C):
        Non-homologous end-joining
    Primary immunodeficiency

        Pathway & Disease-focused RT2 Profiler PCR Array including DCLRE1C: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DCLRE1C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DCLRE1C (Q96SD13 ENSP000003675274) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKDCP785273, ENSP000003134204I2D: score=2 STRING: ENSP00000313420
    BRCA1P383983, ENSP000003502834I2D: score=1 STRING: ENSP00000350283
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    FBXW7Q969H03, ENSP000002817084I2D: score=1 STRING: ENSP00000281708
    TP53BP1Q128883, ENSP000003714754I2D: score=2 STRING: ENSP00000371475
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance IEA--
    GO:0000737DNA catabolic process, endonucleolytic IDA11955432
    GO:0006302double-strand break repair IEA--
    GO:0006310DNA recombination IEA--
    GO:0010212response to ionizing radiation IEA--

    Find genes that share ontologies with DCLRE1C           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DCLRE1C (DCR1C)

    3 Novoseek inferred chemical compound relationships for DCLRE1C gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    busulfan 31.3 1 17062750 (1)
    bleomycin 30.1 3 17121861 (1), 16600297 (1)
    etoposide 17.9 2 15811628 (1)



    Find genes that share compounds with DCLRE1C           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DCLRE1C gene (8 alternative transcripts): 
    NM_001033855.2  NM_001033857.2  NM_001033858.2  NM_001289076.1  NM_001289077.1  NM_001289078.1  NM_001289079.1  NM_022487.3  

    Unigene Cluster for DCLRE1C:

    DNA cross-link repair 1C
    Hs.656065  [show with all ESTs]
    Unigene Representative Sequence: NM_001033858
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378289(uc010qbx.2) ENST00000378246 ENST00000357717(uc009xjj.1)
    ENST00000378249 ENST00000396817 ENST00000378255 ENST00000378254 ENST00000378278
    ENST00000378258 ENST00000378242 ENST00000492201 ENST00000489845 ENST00000489161
    ENST00000418843 ENST00000378241 ENST00000456122 ENST00000453695(uc001ink.3 uc001inl.3 uc001inr.3 uc009xji.3 uc001inm.3 uc001inn.3 uc001ino.3 uc009xjh.3 uc001inp.3 uc001inq.3 uc021pni.1)

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    5 qRT-PCR Assays for microRNAs that regulate DCLRE1C:
    hsa-miR-140-5p hsa-miR-3168 hsa-miR-4328 hsa-miR-29a* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidDCLRE1C 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat DCLRE1C
      QuantiFast Probe-based Assays in human, mouse, rat DCLRE1C

    Additional mRNA sequence: 

    AF088055.1 AF395747.1 AF395748.1 AF395749.1 AF395750.1 AF395751.1 AF395752.1 AJ296101.1 
    AK021422.1 AK022922.1 AK093757.1 AK290598.1 AK307912.1 BC000863.1 BC009185.2 BC022254.1 
    BC108276.1 BX648858.1 

    16 DOTS entries:

    DT.100781429  DT.97842378  DT.112930  DT.100781428  DT.110130  DT.92054069  DT.40110830  DT.100781430 
    DT.91676429  DT.100008105  DT.100031194  DT.100031199  DT.40314610  DT.91676432  DT.95160182  DT.91676433 

    Selected AceView cDNA sequences (see all 119):

    AA714031 R88713 CD723898 CK902103 AA306797 BU163279 BQ214281 AI192851 
    BC000863 AI627918 BM717948 AA262552 AI760521 AI985288 AW157543 BX116057 
    BQ581475 AA767791 BQ932042 BX283554 AA228082 CA307289 AI692505 AA826353 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1C (see all 15)    About this scheme

    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:                          -     -           -                                                                       -           -                           


    ECgene alternative splicing isoforms for DCLRE1C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DCLRE1C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACAAAATG
    DCLRE1C Expression
    About this image


    DCLRE1C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    DCLRE1C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCLRE1C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656065

    UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DCLRE1C gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dclre1c1 , 5 DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae)1, 5 81.95(n)1
    80.64(a)1
      2 (1.93 cM)5
    2275251  NM_146114.31  NP_666226.21 
     34241315 
    chicken
    (Gallus gallus)
    Aves DCLRE1C1 DNA cross-link repair 1C 68.06(n)
    65.52(a)
      430764  NM_001031594.1  NP_001026765.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCLRE1C6
    DNA cross-link repair 1C
    64(a)
    1 ↔ 1
    GL343559.1(269476-293719)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dclre1c1 DNA cross-link repair 1C 65.25(n)
    65.81(a)
      100493603  XM_002935252.2  XP_002935298.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dclre1c1 DNA cross-link repair 1C, PSO2 homolog (S. cerevisiae) 60.39(n)
    58.51(a)
      566285  NM_001045101.1  NP_001038566.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Snm16
    Snm1
    13(a)
    1 → many
    3R(1380812-1383508)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PSO26
    Nuclease required for a post-incision step in the ...
    13(a)
    1 → many
    XIII(542978-544963) YMR137C


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCLRE1C gene
    DCLRE1B2  DCLRE1A2  

    Find genes that share paralogs with DCLRE1C           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for DCLRE1C
    PGOHUM00000238362 PGOHUM00000238363


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DCLRE1C (see all 1459)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0230774
    Omenn syndrome (OS)4--see VAR_0230772 H D mis40--------
    rs70768621,2
    C,F,Hnon-pathogenic114884028(+) GAACAG/AATATT 8 /L syn124Minor allele frequency- A:0.45NS NA CSA EA EU WA 6919
    rs354416421,2,,4
    C,Fnon-pathogenic114884341(+) ATCTTG/CGATCA 8 /P /R mis120Minor allele frequency- C:0.10NA NS EA EU WA 7699
    rs1219081561,2
    Cpathogenic114894719(-) AGAAAC/TGAATT 5 R * ut51 stg11Minor allele frequency- T:0.00NA 4410
    rs412970181,2,,4
    C,Fprobable-pathogenic114885083(-) ACTCCG/AGGGGC 8 /R /G mis110Minor allele frequency- A:0.01NS NA EU 6317
    rs1819195771,2
    --14856064(+) TATAAA/GATAAC 4 -- ds50010--------
    rs1839499901,2
    --14856068(+) AAATAA/CCAGGA 4 -- ds50010--------
    rs413007061,2
    C--14856120(-) TGATCG/AAAAGT 4 -- ds50016Minor allele frequency- A:0.02NS NA 308
    rs1425640731,2
    C--14856250(+) TTGGTC/TGGATT 4 -- ds50010--------
    rs413007041,2
    C,F--14856251(-) CAATCC/TGACCA 4 -- ds50017Minor allele frequency- T:0.06NS WA 310

    HapMap Linkage Disequilibrium report for DCLRE1C (14939358 - 14996431 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DCLRE1C (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664084CNV Deletion23128226
    esv2733495CNV Deletion23290073
    nsv435909CNV Deletion17901297
    esv2733506CNV Deletion23290073
    nsv831793CNV Loss17160897
    nsv466753CNV Loss19166990
    dgv69n27CNV Gain19166990
    nsv470922CNV Gain18288195
    nsv825256CNV Gain20364138
    dgv68n27CNV Gain19166990

    Human Gene Mutation Database (HGMD): DCLRE1C
    Locus Specific Mutation Databases (LSDB): DCLRE1C

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605988   
    OMIM disorders: 602450  603554  
    UniProtKB/Swiss-Prot: DCR1C_HUMAN, Q96SD1
  • 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. 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. 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for DCLRE1C:    
    About MalaCards
    severe combined immunodeficiency, athabascan type    artemis deficiency    retinitis pigmentosa 11    severe combined immunodeficiency
    pinguecula    omenn syndrome    nijmegen breakage syndrome

    3 diseases from the University of Copenhagen DISEASES database for DCLRE1C:
    Severe combined immunodeficiency     Omenn syndrome     Pinguecula

    Find genes that share disorders with DCLRE1C           About GenesLikeMe

    10 Novoseek inferred disease relationships for DCLRE1C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    omenn syndrome 90.5 6 16763459 (1), 19953608 (1), 15731174 (1), 19912631 (1)
    severe combined immunodeficiency 90.2 16 12592555 (2), 12921762 (2), 14628082 (1), 12224067 (1) (see all 11)
    ataxia telangiectasia 67.8 3 15574327 (1), 16971555 (1), 15966765 (1)
    nijmegen breakage syndrome 55.5 3 15966765 (1), 15723659 (1)
    immunodeficiency 42 7 12569164 (2), 19011808 (1), 12727634 (1), 15723659 (1) (see all 5)
    genetic disorder 34.9 1 16358361 (1)
    lymphoma 26.5 5 12569164 (3), 12727634 (1), 15761611 (1)
    chromosomal aberrations 10.4 1 15761611 (1)
    tumors 5.23 4 17384673 (2), 14983023 (1)
    prostate cancer 0 1 17453916 (1)

    Genetic Association Database (GAD): DCLRE1C
    Human Genome Epidemiology (HuGE) Navigator: DCLRE1C (8 documents)

    Export disorders for DCLRE1C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DCLRE1C gene, integrated from 10 sources (see all 134):
    (articles sorted by number of sources associating them with DCLRE1C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. (PubMed id 11336668)1, 2, 3 Moshous D.... de Villartay J.-P. (Cell 2001)
    2. Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. (PubMed id 15811628)1, 2, 9 Wang J.... Yannone S.M. (DNA Repair 2005)
    3. Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. (PubMed id 15723659)1, 2, 9 Chen L.... Mizutani S. (Cancer Sci. 2005)
    4. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. (PubMed id 12406895)1, 2, 9 Noordzij J.G.... van Dongen J.J.M. (Blood 2003)
    5. Phosphorylation of Artemis following irradiation-induced DNA damage. (PubMed id 15468306)1, 2, 9 Poinsignon C.... de Villartay J.-P. (Eur. J. Immunol. 2004)
    6. The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps. (PubMed id 15936993)1, 2, 9 Ma Y.... Lieber M.R. (DNA Repair 2005)
    7. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. (PubMed id 12569164)1, 2, 9 Moshous D.... de Villartay J.-P. (J. Clin. Invest. 2003)
    8. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. (PubMed id 15574327)1, 2, 9 Riballo E.... Loebrich M. (Mol. Cell 2004)
    9. The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination. (PubMed id 14744996)1, 2, 9 Poinsignon C....de Villartay J.-P. (J. Exp. Med. 2004)
    10. Omenn syndrome due to ARTEMIS mutations. (PubMed id 15731174)1, 2, 9 Ege M....Pannicke U. (Blood 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64421 HGNC: 17642 AceView: DCLRE1C Ensembl:ENSG00000152457 euGenes: HUgn64421
    ECgene: DCLRE1C Kegg: 64421 H-InvDB: DCLRE1C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DCLRE1C Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DCLRE1C Genetics and Cytogenetics in Oncology and Haematology
    DCLRE1Cbasehttp://bioinf.uta.fi/DCLRE1Cbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DCLRE1C[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/dclre1c/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DCLRE1C gene:
    Search GeneIP for patents involving DCLRE1C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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