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FLASH GENE
Symbol DCLRE1C contributors: mct/pgu - updated : 06-09-2015
HGNC name DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)
HGNC id 17642
Corresponding disease
SCIDA severe combined immunodeficiency disease
Location 10p13      Physical location : 14.948.872 - 14.996.094
Synonym name
  • artemis, double strand break repair/V(D)J recombination protein
  • SNM1-like protein
  • artemis protein
  • A-SCID protein
  • Synonym symbol(s) ARTEMIS, FLJ11360, SNM1C, DCLREC1C, FLJ36438, A-SCID
    EC.number 3.1.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 47.22 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D10S1664 - D10S191 - D10S1653 - D10S574 - cen
    Physical map
    LOC389939 10 similar to ribosomal protein L5 OPTN 10p14 optineurin MCM10 10p13 MCM10 minichromosome maintenance deficient 10 (S. cerevisiae) LOC221044 10p14 hypothetical protein BC018068 PHYH 10p15-p14 phytanoyl-CoA hydroxylase (Refsum disease) SEPHS1 10p14 selenophosphate synthetase 1 C10orf30 10p14 chromosome 10 open reading frame 30 PRPF18 10p12.33 PRP18 pre-mRNA processing factor 18 homolog (yeast) FLJ10210 C10orf45 10p14 chromosome 10 open reading frame 45 LOC283071 10p14 similar to hypothetical protein 9330140G23 HSP70-4 10p14 likely ortholog of mouse heat shock protein, 70 kDa 4 SUV39H2 10p13 suppressor of variegation 3-9 homolog 2 (Drosophila) DCLRE1C 10p14-p13 DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) LOC389940 10 similar to seven transmembrane helix receptor FLJ11106 10p13 hypothetical protein FLJ11106 LOC387634 10 similar to Acyl-CoA-binding protein (ACBP) (Diazepam binding inhibitor) (DBI) (Endozepine) (EP) MGC35468 10p13 hypothetical protein MGC35468 RPP38 10p13 ribonuclease P (38kD) NMT2 10p12.33-p12.32 N-myristoyltransferase 2 LOC221061 10p13 hypothetical protein LOC221061 ITGA8 10p13 integrin, alpha 8 FLJ13397 10p13 hypothetical protein FLJ13397 PTER 10p12 phosphotriesterase related LOC389941 10 similar to Gliacolin RSU1 10p13 Ras suppressor protein 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3701 78 692 - 2005 16093244
    13 - 3645 - 577 - 2005 16093244
    - - 4108 - 572 - 2005 16093244
    15 - 3786 - 572 - 2005 16093244
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunelymph node   highly
     spleen    
     tonsils   highly
    Respiratorylung    
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a conserved region
  • the beta-CASP domain
  • a metallo-beta-lactamase domain
  • HOMOLOGY
    interspecies homolog to yeast Pso2
    homolog to murine SNM1
    Homologene
    FAMILY
  • DNA repair metallo-beta-lactamase (DRMBL) family
  • SNM1 gene family
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text exclusively localized in the nucleus
    basic FUNCTION
  • nuclease 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
  • required for the maintenance of a normal DNA damage-induced G2/M cell cycle arrest
  • required to cleave DNA hairpins at coding joints during V(D)J recombination, for repair of DSBs by the non homologous end joining pathway, and for cell cycle checkpoint regulation in response to DNA damage
  • involved in V(D)J recombination and nonhomologous end joining (NHEJ) of DNA double-strand break (DSB) repair
  • but only partially participates in the NHEJ pathway to repair DSBs in human somatic cells
  • negative regulator of TP53 in response to oxidative stress in both primary cells and cancer cell lines
  • DNA nuclease that plays important roles in non-homologous end-joining (NHEJ), a major double-strand break (DSB) repair pathway
  • is involved in multiple biological processes through interactions with different binding partners
  • while both SETMAR and DCLRE1C are biochemically capable of resolving a variety of damaged DNA ends for the repair of complex double-strand breaks, DCLRE1C appears to act more efficiently in the context of other nonhomologous end joining proteins
  • is the major downstream effector of the TP53BP1 pathway, which prevents end resection and promotes nonhomologous end-joining and therefore directly competes with the homologous recombination repair pathway
  • DCLRE1C and ERCC4-ERCC1 can also induce stalled DNA replication forks cleavage through non-epistatic pathways all along S and G2 phases of the cell cycle
  • CELLULAR PROCESS nucleotide, recombination
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text double strand break repair and V(D)J recombination
    PATHWAY
    metabolism
    signaling
    a component
  • forming a key nuclease for nonhomologous DNA end joining (NHEJ) in vertebrate organisms by asssociated with DNA-dependent protein kinase (DNA-PKcs)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacts with ATM, BRCA1, PRKDC and TP53BP1
  • interacting with known cell cycle checkpoint proteins and being a phosphorylation target of the checkpoint kinase ATM or ATR after exposure of cells to IR or UV irradiation, respectively
  • processing of 3'-phosphoglycolate-terminated DNA double strand breaks
  • interacting with XRCC6 and the DNA-dependent protein kinase catalytic subunit at DNA ends
  • functions as a positive regulator of AMPK signaling by stabilizing the STK11–AMPK complex
  • DCLRE1C physically interacts with PRKAA2
  • promote STK11-mediated phosphorylation and activation of AMPK by stabilizing the STK11–PRKAA2 complex
  • DCLRE1C and LIG4 act cooperatively to promote Nonhomologous end-joining (NHEJ), thereby suppressing homologous recombination (HR) (PMI: 23967291)
  • is a PAXIP1-binding protein
  • Rapid Replication Fork Breakage (RRFB) mediated by DCLRE1C and ERCC4 in response to DNA replication stress (DRS) contributes to DNA replication efficiency and limit chromosomal instability
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCIDA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    ARTEMIS-deficient cells are hypersensitive to the topoisomerase II inhibitor etoposide
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS