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FLASH GENE
Symbol DCLRE1B contributors: mct - updated : 23-04-2012
HGNC name DNA cross-link repair 1B
HGNC id 17641
Location 1p13.2      Physical location : 114.447.914 - 114.456.707
Synonym name
  • Apollo
  • DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)
  • SNM1 homolog B
  • Synonym symbol(s) SNM1B, FLJ12810, FLJ13998, APOLLO, DKFZp686C24187
    DNA
    TYPE functioning gene
    STRUCTURE 8.66 kb     4 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D1S2756 - D1S3461 - DCLRE1B - D1S2881 - D1S2123 - cen
    Physical map
    ST7L 1p12 suppression of tumorigenicity 7 like CAPZA1 1p13.1 capping protein (actin filament) muscle Z-line, alpha 1 MRPL53P1 1p13.2 capping protein (actin filament) muscle Z-line, alpha 1 MOV10 1p13.1 Mov10, Moloney leukemia virus 10, homolog (mouse) ARHC 1p21-p13 ras homolog gene family, member C LOC284467 1p13.1 TAFA3 MGC19531 1p13.1 hypothetical protein MGC19531 LOC128322 1p13.1 similar to Nuclear transport factor 2 (NTF-2) (Placental protein 15) (PP15) LOC388666 1 hypothetical gene supported by AK093435 SLC16A1 1p13.2-p12 solute carrier family 16 (monocarboxylic acid transporters), member 1 LRIG2 1p13.1 leucine-rich repeats and immunoglobulin-like domains 2 RPS19P2 1p13.1 ribosomal protein S19 pseudogene 2 MAGI-3 1p12-p11.2 membrane-associated guanylate kinase-related (MAGI-3) PHTF1 1p13-p11 putative homeodomain transcription factor 1 FLJ11220 1p13.1 hypothetical protein FLJ11220 PTPN22 1p13.3-p13.1 protein tyrosine phosphatase, non-receptor type 22 (lymphoid) LOC148280 1p13.1 hypothetical LOC148280 AP4B1 1p11.2 adaptor-related protein complex 4, beta 1 subunit DCLRE1B 1p11.2 DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) HIPK1 1p12 DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae) HNOEL-iso 1p13.1 HNOEL-iso protein SYT6 1p13.1 synaptotagmin VI MRP63P1 1p13.1 mitochondrial ribosomal protein 63 pseudogene 1 LOC391067 1 LOC391067 TRIM33 1p13.1 tripartite motif-containing 33 LOC347675 1p13.1 eukaryotic translation initiation factor 2 beta-like pseudogene LOC339395 1p13.1 similar to Pyruvate kinase, M2 isozyme BCAS2 1p21-p13.3 breast carcinoma amplified sequence 2 FLJ37099 1p13.1 FLJ37099 protein AMPD1 1p13 adenosine monophosphate deaminase 1 (isoform M) NRAS 1p13.2 neuroblastoma RAS viral (v-ras) oncogene homolog D1S155E 1p22 NRAS-related gene FLJ21168 1p13.1 hypothetical protein FLJ21168 SYCP1 1p13 synaptonemal complex protein 1 TSHB 1p13 thyroid stimulating hormone, beta TSPAN-2 1p13.1 tetraspan 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3795 60 532 - 2008 18469862
    - - - - - - 2010 20479256
  • also called Apollo delta
  • resulted from an intraexonic splice in exon 4 leading to an out-of-frame deletion of 293 (12471539) bp and a frameshift at E417, resulting in a premature stop codon
  • has lost its capacity to interact with TRF2, but can still interact with WT-Apollo
  • expressed in a patient with HHS syndrome (cf DKC1)
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a metallo-beta-lactamase and beta-CASP domains
  • a TRF homology-binding motif (TBM) critical for the interaction with the telomere shelterin factor TRF2
  • a nuclease domain protecting interstitial telomeric DNA from breakage
  • HOMOLOGY
    interspecies homolog to murine SNM1
    homolog to yeast Pso2
    Homologene
    FAMILY
  • PSO2/SNM1 family
  • metallo-beta-lactamase/betaCASP family of nucleases
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • putative hydrolase, involved in V(D)J recombination/DNA repair
  • requirement in ATM checkpoint activation specifically after interstrand cross-links damage is correlated with its role in promoting double-strand break formation, and thus replication fork collapse
  • has the ability to localize to telomeres through an interaction with the shelterin component TERF2
  • shelterin accessory factor required for the protection of telomeres during or after their replication
  • multifunctional gene involved in both the DNA damage response and in an early mitotic checkpoint in response to spindle stress
  • involved in the cellular response to DNA-damage as well as in the maintenance of telomeres during S-phase
  • crucial actor in telomere maintenance, independent of its function as a general DNA repair factor
  • recruited to telomeres via a specific interaction with TRF2
  • has a pivotal function in protecting newly replicated leading-strand telomeres from NHEJ-mediated repair
  • its nuclease activity is required to prevent NHEJ-mediated repair of dysfunctional telomeres
  • TERF2 and DCLRE1B suppress damage to engineered interstitial telomere repeat tracts that were inserted far away from chromosome ends
  • controls telomere replication and senescence
  • shelterin-associated protein that localizes to telomeres through its interaction with TERF2
  • required to protect telomeres against nonhomologous end-joining (NHEJ)-mediated repair, which results in genomic instability and the consequent multi-organ developmental failure
  • function in interstrand crosslinks repair
  • functions epistatically to the central FA factor, FANCD2, in cellular survival after ICL damage and homology-directed repair of DNA double-strand breaks
  • facilitates the recruitment of proteins required for homologous recombination
  • DLCRE1A and DLCRE1B participate in etoposide-induced apoptosis (Pubmed 21683065)
  • DLCRE1A and DLCRE1B act before mitochondria and caspase activation during apoptosis
  • DCLRE1A and DCLRE1B might exhibit some redundancy in interstrand cross-link repair
  • DCLRE1A has greater affinity for single-stranded DNA over double-stranded DNA that is not observed with DCLRE1B
  • DCLRE1B is also required for telomere protection
  • CELLULAR PROCESS nucleotide, recombination
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    text double strand break repair and V(D)J recombination
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacts with the MRE11-RAD50-NBS1 (MRN) complex and with FANCDD2 further substantiating its role as a checkpoint/DNA repair protein
  • interacting with SPAG5 through its conserved metallo-beta-lactamase domain, and disruption of this interaction by point mutations results in a deficient prophase checkpoint
  • TERF2 interact physically with DCLRE1B
  • physically interacts with MRE11A and RAD50, suggesting that DCLRE1B might form a complex with the MRN complex at leading-strand telomeres to promote the generation of the 3prime ss overhang
  • DCLRE1B and FANCD2 function epistatically in cellular responses to mitomycin C -induced DNA damage to ensure survival
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene pertinent candidate gene in other Hoyeraal-Hreidarsson syndrome-related conditions
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    putative target in cancer therapy
    ANIMAL & CELL MODELS