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DCLRE1B Gene

protein-coding   GIFtS: 50
GCID: GC01P114447

DNA Cross-Link Repair 1B

(Previous names: DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae))
  See 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 1B1 2     PSO2 Homolog (S. Cerevisiae)1
APOLLO1 2 5     5' Exonuclease Apollo2
SNM1B2 3 5     PSO2 Homolog2
DNA Cross-Link Repair 1B (PSO2 Homolog, S. Cerevisiae)1 2     EC 3.1.-.-3
SNMIB2 3     DNA Cross-Link Repair 1B Protein3
SNM1 Homolog B2 3     hSNM1B3

External Ids:    HGNC: 176411   Entrez Gene: 648582   Ensembl: ENSG000001186557   OMIM: 6096835   UniProtKB: Q9H8163   

Export aliases for DCLRE1B gene to outside databases

Previous GC identifers: GC01P114861 GC01P113330 GC01P113548 GC01P113746 GC01P114160 GC01P114249 GC01P112306


(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 DCLRE1B Gene:
DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and
segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand
cross-links (Dronkert et al., 2000 (PubMed 10848582)).(supplied by OMIM, Mar 2008)

GeneCards Summary for DCLRE1B Gene:
DCLRE1B (DNA cross-link repair 1B) is a protein-coding gene. Diseases associated with DCLRE1B include cerebellar hypoplasia, and aplastic anemia. GO annotations related to this gene include 5'-3' exonuclease activity. An important paralog of this gene is DCLRE1C.

UniProtKB/Swiss-Prot: DCR1B_HUMAN, Q9H816
Function: 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase.
Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby
ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by
TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication
via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt
leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that
activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage
during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere
replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage:
plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In
case of spindle stress, involved in prophase checkpoint

Gene Wiki entry for DCLRE1B 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DCLRE1B gene promoter:
         Bach2   Lmo2   Nkx2-5   Max   HEN1   PPAR-gamma1   Zic1   HFH-1   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCLRE1B promoter sequence
   Search Chromatin IP Primers for DCLRE1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DCLRE1B


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

Entrez Gene cytogenetic band: 1p13.2   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p11.1

DCLRE1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCLRE1B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P114447:  view genomic region     (about GC identifiers)

Start:
114,447,763 bp from pter      End:
114,456,708 bp from pter
Size:
8,946 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DCR1B_HUMAN, Q9H816 (See protein sequence)
Recommended Name: 5' exonuclease Apollo  
Size: 532 amino acids; 60002 Da
Subunit: Interacts with TERF2; the interaction is direct. Interacts with MUS81, MRE11 and FANCD2. Interacts with
HSPA2, HSPA8 and HSPA14. Interacts with SPAG5
Miscellaneous: Was named 'Apollo' in reference to the twin brother of 'Artemis' in Greek mythology
(PubMed:16730175 and PubMed:16730176). Artemis/DCLRE1C is a related nuclease
Sequence caution: Sequence=BAB14284.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for DCLRE1B:
3BUA (3D)        3ZDK (3D)    
Secondary accessions: Q9H9E5

Explore the universe of human proteins at neXtProt for DCLRE1B: NX_Q9H816

Explore proteomics data for DCLRE1B at MOPED

Post-translational modifications: 

  • Ubiquitinated, leading to its degradation. Interaction with TERF2 protects it from ubiquitination1
  • Ubiquitination2 at Lys333
  • Modification sites at PhosphoSitePlus

  • See DCLRE1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073747.1  
    ENSEMBL proteins: 
     ENSP00000358576  

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    (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 Q9H816

    ProtoNet protein and cluster: Q9H816

    UniProtKB/Swiss-Prot: DCR1B_HUMAN, Q9H816
    Domain: The TBM domain mediates interaction with TERF2
    Similarity: Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family


    DCLRE1B for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DCR1B_HUMAN, Q9H816
    Function: 5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase.
    Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby
    ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by
    TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication
    via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt
    leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that
    activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage
    during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere
    replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage:
    plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In
    case of spindle stress, involved in prophase checkpoint

         Enzyme Number (IUBMB): EC 3.1.-.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16730175
    GO:00084095'-3' exonuclease activity IDA16730175
         
    DCLRE1B for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DCLRE1B:
     Decreased influenza A virus in  Increased cell number in G1, s 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dclre1b):
     embryogenesis  growth/size/body  mortality/aging  no phenotypic analysis 

    DCLRE1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dclre1btm1Schg for DCLRE1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DCLRE1B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DCLRE1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DCLRE1B

    miRNA
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    miRTarBase miRNAs that target DCLRE1B:
    hsa-mir-320a (MIRT044451), hsa-mir-484 (MIRT041758), hsa-mir-331-3p (MIRT019240), hsa-mir-320b (MIRT036181), hsa-mir-378a-3p (MIRT019658)

    Block miRNA regulation of human, mouse, rat DCLRE1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DCLRE1B (see all 17):
    hsa-miR-495 hsa-miR-509-5p hsa-miR-1271 hsa-miR-298 hsa-miR-3154 hsa-miR-149 hsa-miR-96 hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidDCLRE1B 3' UTR sequence
    Inhib. RNA
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    Sino Biological Human cDNA Clone for DCLRE1B
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1B


    (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
    DCR1B_HUMAN, Q9H816: Chromosome, telomere. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center,
    centrosome. Note=Mainly localizes to telomeres, recruited via its interaction with TERF2. During mitosis,
    localizes to the centrosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    golgi apparatus2
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA16730175
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA19197158

    DCLRE1B for ontologies           About GeneDecksing


    (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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including DCLRE1B: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DCLRE1B

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

    Selected Interacting proteins for DCLRE1B (Q9H8161, 2, 3 ENSP000003585764) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD4P550362, 3, ENSP000003578794MINT-3372956 I2D: score=1 STRING: ENSP00000357879
    TERF2Q155541, 3, ENSP000002549424EBI-3508943,EBI-706637 I2D: score=2 STRING: ENSP00000254942
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    FANCD2Q9BXW93, ENSP000002876474I2D: score=1 STRING: ENSP00000287647
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint IMP19197158
    GO:0000723telomere maintenance IMP--
    GO:0006281DNA repair IEA--
    GO:0031627telomeric loop formation ISS--
    GO:0031848protection from non-homologous end joining at telomere IMP16730175

    DCLRE1B for ontologies           About GeneDecksing



    (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 DCLRE1B (DCR1B)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DCLRE1B gene: 
    NM_022836.3  

    Unigene Cluster for DCLRE1B:

    DNA cross-link repair 1B
    Hs.591412  [show with all ESTs]
    Unigene Representative Sequence: NM_022836
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369563(uc001eeh.3 uc001eeg.3 uc001eei.3) ENST00000466480

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DCLRE1B (see all 17):
    hsa-miR-495 hsa-miR-509-5p hsa-miR-1271 hsa-miR-298 hsa-miR-3154 hsa-miR-149 hsa-miR-96 hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidDCLRE1B 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF306690.1 AF306691.1 AF306692.1 AF306693.1 AK022872.1 AK024060.1 BC011950.1 BC029687.1 
    CR936679.1 

    4 DOTS entries:

    DT.302629  DT.100706381  DT.100813096  DT.121428338 

    Selected AceView cDNA sequences (see all 71):

    BM457117 AK024060 AF306691 BM699019 AF306692 AK022872 AA424275 NM_022836 
    BC029687 BU620261 BU616748 BU628478 AI805858 AI270720 CA423843 CR591475 
    AA676673 BP339369 BU629948 AI362230 CA424119 AI270709 BI915935 BQ221261 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1B    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5
    SP1:                                          
    SP2:              -                           


    ECgene alternative splicing isoforms for DCLRE1B

    (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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    DCLRE1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAGTATACC
    DCLRE1B Expression
    About this image

    DCLRE1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCLRE1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591412
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DCLRE1B: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat DCLRE1B
    Search QuantiFast Probe-based Assays in human, mouse, rat DCLRE1B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DCLRE1B

    (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 eukaryotes.

    Orthologs for DCLRE1B gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dclre1b1 , 5 DNA cross-link repair 1B, PSO2 homolog (S. cerevisiae)1, 5 81.21(n)1
    78.67(a)1
      3 (45.52 cM)5
    1409171  NM_133865.21  NP_598626.21 
     1038006055 
    chicken
    (Gallus gallus)
    Aves DCLRE1B1 DNA cross-link repair 1B 62.66(n)
    62.57(a)
      428269  NM_001031500.2  NP_001026671.2 
    lizard
    (Anolis carolinensis)
    Reptilia DCLRE1B6
    DNA cross-link repair 1B
    67(a)
    1 ↔ 1
    4(129621246-129628023)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dclre1b1 DNA cross-link repair 1B 57.75(n)
    58.77(a)
      100170639  XM_002932120.2  XP_002932166.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dclre1b1 DNA cross-link repair 1B 59.5(n)
    56.72(a)
      768137  NM_001077283.1  NP_001070751.1 
    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 ...
    14(a)
    1 → many
    XIII(542978-544963) YMR137C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G274101 AT1G27410 50.55(n)
    42.91(a)
      839631  NM_102504.4  NP_174061.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07834001 Os01g0783400 49.89(n)
    43.71(a)
      4327056  NM_001050988.2  NP_001044453.2 


    ENSEMBL Gene Tree for DCLRE1B (if available)
    TreeFam Gene Tree for DCLRE1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCLRE1B gene
    DCLRE1C2  DCLRE1A2  

    DCLRE1B for paralogs           About GeneDecksing



    (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 DCLRE1B (see all 170)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs760698851,2
    C--114449826(+) TAGATG/TTTTTT 1 -- int10--------
    rs111027011,2
    C,F,A,H--114449829(+) ATGTTT/ATTTTT 1 -- int1 trp36Minor allele frequency- A:0.31NS NA 174
    rs558684141,2
    --114449856(+) TTTTTA/TAATGT 1 -- int10--------
    rs1923641901,2
    --114449877(+) GCCTCA/GCAGTG 1 -- int10--------
    rs1426475751,2
    C--114449887(+) GTTGCC/TGAGGC 1 -- int10--------
    rs1146610421,2
    F--114450022(+) GAGGCG/ACTGGA 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1833613391,2
    --114450065(+) GACCCA/CATCTC 1 -- int10--------
    rs1872156081,2
    --114450158(+) GTGATC/TGTGGC 1 -- int10--------
    rs12173991,2
    C,F--114450178(+) cctccG/Accttc 1 -- int17Minor allele frequency- A:0.05NA NS WA 176
    rs1921449561,2
    --114450235(+) GACAGA/GCGCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DCLRE1B (114447763 - 114456708 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DCLRE1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23869CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DCLRE1B
    DNA2.0 Custom Variant and Variant Library Synthesis for DCLRE1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609683    OMIM disorders: --

    UniProtKB/Swiss-Prot: DCR1B_HUMAN, Q9H816
  • Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: A clinically severe variant of dyskeratosis congenita
    that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood.
    Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed
    development, and bone marrow failure resulting in immunodeficiency. Note=The gene represented in this entry may
    be involved in disease pathogenesis. An aberrant splice variant of DCLRE1B, designated Apollo-Delta, has been
    found in a patient with Hoyeraal-Hreidarsson syndrome (PubMed:20479256). Apollo-Delta hampers the proper
    replication of telomeres, leading to major telomeric dysfunction and cellular senescence, but maintains its DNA
    interstrand cross-link repair function in the whole genome

  • 8 diseases for DCLRE1B:    
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    cerebellar hypoplasia    aplastic anemia    fanconi's anemia    microcephaly
    inflammatory bowel disease    multiple myeloma    myeloma    breast cancer


    DCLRE1B for disorders           About GeneDecksing


    Export disorders for DCLRE1B 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 DCLRE1B gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with DCLRE1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TRF2 and Apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage. (PubMed id 20655466)1, 2 Ye J.... Gilson E. (Cell 2010)
    2. Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response. (PubMed id 19411856)1, 2 Anders M.... Demuth I. (Cell Cycle 2009)
    3. SNM1B/Apollo interacts with astrin and is required for the prophase cell cycle checkpoint. (PubMed id 19197158)1, 2 Liu L....Legerski R. (Cell Cycle 2009)
    4. Snm1B/Apollo mediates replication fork collapse and S Phase checkpoint activation in response to DNA interstrand cross-links. (PubMed id 18469862)1, 2 Bae J.B.... Legerski R.J. (Oncogene 2008)
    5. The protein hSnm1B is stabilized when bound to the telomere-binding protein TRF2. (PubMed id 18593705)1, 2 Freibaum B.D. and Counter C.M. (J. Biol. Chem. 2008)
    6. Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation. (PubMed id 18468965)1, 2 Demuth I.... Concannon P. (DNA Repair 2008)
    7. Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase. (PubMed id 16730176)1, 2 van Overbeek M. and de Lange T. (Curr. Biol. 2006)
    8. The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair. (PubMed id 16730175)1, 2 Lenain C....Gilson E. (Curr. Biol. 2006)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. hSnm1B is a novel telomere-associated protein. (PubMed id 16606622)1, 2 Freibaum B.D. and Counter C.M. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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      Query String
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    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: 64858 HGNC: 17641 AceView: DCLRE1B Ensembl:ENSG00000118655 euGenes: HUgn64858
    ECgene: DCLRE1B H-InvDB: DCLRE1B

    (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 DCLRE1B Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DCLRE1B Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/dclre1b/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DCLRE1B gene:
    Search GeneIP for patents involving DCLRE1B

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



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