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Aliases for DCLRE1B Gene

Aliases for DCLRE1B Gene

  • DNA Cross-Link Repair 1B 2 3 5
  • DNA Cross-Link Repair 1B (PSO2 Homolog, S. Cerevisiae) 2 3
  • SNM1 Homolog B 3 4
  • APOLLO 2 3
  • SNM1B 3 4
  • SNMIB 3 4
  • DNA Cross-Link Repair 1B Protein 4
  • PSO2 Homolog (S. Cerevisiae) 2
  • 5 Exonuclease Apollo 3
  • PSO2 Homolog 3
  • EC 3.1.-.- 4
  • HSNM1B 4

External Ids for DCLRE1B Gene

Previous GeneCards Identifiers for DCLRE1B Gene

  • GC01P114861
  • GC01P113330
  • GC01P113548
  • GC01P113746
  • GC01P114160
  • GC01P114249
  • GC01P114447
  • GC01P112306

Summaries for DCLRE1B Gene

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 Dyskeratosis Congenita and Congenital Hypoplastic Anemia. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include 5-3 exonuclease activity. An important paralog of this gene is DCLRE1C.

UniProtKB/Swiss-Prot for DCLRE1B Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCLRE1B Gene

Genomics for DCLRE1B Gene

Regulatory Elements for DCLRE1B Gene

Enhancers for DCLRE1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F113927 1.2 FANTOM5 ENCODE 16.4 +26.8 26768 8.4 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TRIM33 LOC100421402 LRIG2 OLFML3 RSBN1 SIKE1 DCLRE1B AP4B1 AP4B1-AS1 HIPK1
GH01F113869 0.2 ENCODE 12.5 -32.0 -31963 7.6 HDGF PKNOX1 ATF1 YBX1 YY1 ZNF121 GATA2 CBX5 ZNF143 ZNF207 RSBN1 AP4B1 PHTF1 DCLRE1B ENSG00000231128 HIPK1 HIPK1-AS1 LOC100421402 PTPN22 TRIM33
GH01F113835 0.2 ENCODE 12.4 -69.3 -69288 0.2 CTCF ZNF654 TRIM22 ZNF384 REST RAD21 RFX5 POLR2H GATA3 ATF3 PTPN22 DCLRE1B AP4B1 HIPK1 HIPK1-AS1 RSBN1 ENSG00000231128 PHTF1 OLFML3 GC01M113841
GH01F113944 0.9 Ensembl ENCODE 12.3 +42.1 42052 4.4 ARNT ARID4B FEZF1 KLF7 TSHZ1 REST KAT8 CREB3 MEF2D MIER3 OLFML3 DCLRE1B AP4B1 PHTF1 HIPK1-AS1
GH01F113878 1.1 Ensembl ENCODE 12.1 -24.7 -24706 3.2 HDGF TBP ASH2L ZBTB40 ZNF664 NFYB MTA2 HLF TRIM22 CEBPB AP4B1 PHTF1 DCLRE1B HIPK1 HIPK1-AS1 OLFML3 MAGI3 BCL2L15 PTPN22
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DCLRE1B on UCSC Golden Path with GeneCards custom track

Promoters for DCLRE1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000284673 159 3001 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for DCLRE1B Gene

Chromosome:
1
Start:
113,905,141 bp from pter
End:
113,914,086 bp from pter
Size:
8,946 bases
Orientation:
Plus strand

Genomic View for DCLRE1B Gene

Genes around DCLRE1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCLRE1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCLRE1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCLRE1B Gene

Proteins for DCLRE1B Gene

  • Protein details for DCLRE1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H816-DCR1B_HUMAN
    Recommended name:
    5 exonuclease Apollo
    Protein Accession:
    Q9H816
    Secondary Accessions:
    • Q9H9E5

    Protein attributes for DCLRE1B Gene

    Size:
    532 amino acids
    Molecular mass:
    60002 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB14284.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DCLRE1B Gene

neXtProt entry for DCLRE1B Gene

Post-translational modifications for DCLRE1B Gene

  • Ubiquitinated, leading to its degradation. Interaction with TERF2 protects it from ubiquitination.
  • Ubiquitination at Lys 333
  • Modification sites at PhosphoSitePlus

Other Protein References for DCLRE1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DCLRE1B Gene

Domains & Families for DCLRE1B Gene

Protein Domains for DCLRE1B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCLRE1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H816

UniProtKB/Swiss-Prot:

DCR1B_HUMAN :
  • The TBM domain mediates interaction with TERF2.
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
Domain:
  • The TBM domain mediates interaction with TERF2.
Family:
  • Belongs to the DNA repair metallo-beta-lactamase (DRMBL) family.
genes like me logo Genes that share domains with DCLRE1B: view

No data available for Gene Families for DCLRE1B Gene

Function for DCLRE1B Gene

Molecular function for DCLRE1B Gene

UniProtKB/Swiss-Prot 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 Numbers (IUBMB) for DCLRE1B Gene

Gene Ontology (GO) - Molecular Function for DCLRE1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IBA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0005515 protein binding IPI 16730175
GO:0008409 5-3 exonuclease activity IDA 16730175
genes like me logo Genes that share ontologies with DCLRE1B: view
genes like me logo Genes that share phenotypes with DCLRE1B: view

Animal Models for DCLRE1B Gene

MGI Knock Outs for DCLRE1B:

Animal Model Products

miRNA for DCLRE1B Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCLRE1B Gene

Localization for DCLRE1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCLRE1B Gene

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
Jensen Localization Image for DCLRE1B Gene COMPARTMENTS Subcellular localization image for DCLRE1B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
golgi apparatus 2
cytosol 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DCLRE1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA,IDA 16730175
GO:0000784 colocalizes_with nuclear chromosome, telomeric region IDA 24270157
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DCLRE1B: view

Pathways & Interactions for DCLRE1B Gene

genes like me logo Genes that share pathways with DCLRE1B: view

Pathways by source for DCLRE1B Gene

2 Reactome pathways for DCLRE1B Gene

Gene Ontology (GO) - Biological Process for DCLRE1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint IMP 19197158
GO:0000723 telomere maintenance IMP 20655466
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IBA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with DCLRE1B: view

No data available for SIGNOR curated interactions for DCLRE1B Gene

Transcripts for DCLRE1B Gene

mRNA/cDNA for DCLRE1B Gene

Unigene Clusters for DCLRE1B Gene

DNA cross-link repair 1B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCLRE1B Gene

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

Relevant External Links for DCLRE1B Gene

GeneLoc Exon Structure for
DCLRE1B
ECgene alternative splicing isoforms for
DCLRE1B

Expression for DCLRE1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCLRE1B Gene

Protein differential expression in normal tissues from HIPED for DCLRE1B Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DCLRE1B Gene



Protein tissue co-expression partners for DCLRE1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DCLRE1B Gene:

DCLRE1B

SOURCE GeneReport for Unigene cluster for DCLRE1B Gene:

Hs.591412
genes like me logo Genes that share expression patterns with DCLRE1B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for DCLRE1B Gene

Orthologs for DCLRE1B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DCLRE1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCLRE1B 34 35
  • 99.69 (n)
cow
(Bos Taurus)
Mammalia DCLRE1B 34 35
  • 86.44 (n)
rat
(Rattus norvegicus)
Mammalia Dclre1b 34
  • 86.38 (n)
dog
(Canis familiaris)
Mammalia DCLRE1B 34 35
  • 85.97 (n)
oppossum
(Monodelphis domestica)
Mammalia DCLRE1B 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dclre1b 34 16 35
  • 81.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1B 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCLRE1B 34 35
  • 62.66 (n)
lizard
(Anolis carolinensis)
Reptilia DCLRE1B 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dclre1b 34
  • 57.75 (n)
zebrafish
(Danio rerio)
Actinopterygii dclre1b 34 35
  • 59.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta Snm1 35
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 35
  • 14 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G27410 34
  • 50.55 (n)
rice
(Oryza sativa)
Liliopsida Os01g0783400 34
  • 49.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for DCLRE1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCLRE1B Gene

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

Paralogs for DCLRE1B Gene

Paralogs for DCLRE1B Gene

genes like me logo Genes that share paralogs with DCLRE1B: view

Variants for DCLRE1B Gene

Sequence variations from dbSNP and Humsavar for DCLRE1B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs587783179 Pathogenic 113,902,663(-) GGCTG(-/G)CGTTA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs797045244 Pathogenic 113,902,664(-) AGGGC(C/TG)GCGTT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs879255396 Pathogenic 113,902,864(-) TGTTC(A/C)GGTAC intron-variant, upstream-variant-2KB, splice-acceptor-variant, utr-variant-5-prime
rs117872964 Likely benign 113,904,649(+) TCAGC(C/T)TGAAT nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs34249695 Likely benign 113,902,736(+) AGATC(C/T)GGTTT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, splice-acceptor-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for DCLRE1B Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV loss 19812545
esv3587240 CNV loss 21293372
esv3587251 CNV loss 21293372

Variation tolerance for DCLRE1B Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.90; 83.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCLRE1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCLRE1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCLRE1B Gene

Disorders for DCLRE1B Gene

MalaCards: The human disease database

(3) MalaCards diseases for DCLRE1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DCR1B_HUMAN
  • 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. {ECO:0000269 PubMed:20479256}. 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. {ECO:0000269 PubMed:20479256}.

Relevant External Links for DCLRE1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DCLRE1B
genes like me logo Genes that share disorders with DCLRE1B: view

No data available for Genatlas for DCLRE1B Gene

Publications for DCLRE1B Gene

  1. TRF2 and Apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage. (PMID: 20655466) Ye J. … Gilson E. (Cell 2010) 3 4 64
  2. SNM1B/Apollo interacts with astrin and is required for the prophase cell cycle checkpoint. (PMID: 19197158) Liu L. … Legerski R. (Cell Cycle 2009) 3 4 64
  3. Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response. (PMID: 19411856) Anders M. … Demuth I. (Cell Cycle 2009) 3 4 64
  4. Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation. (PMID: 18468965) Demuth I. … Concannon P. (DNA Repair 2008) 3 4 64
  5. Snm1B/Apollo mediates replication fork collapse and S Phase checkpoint activation in response to DNA interstrand cross-links. (PMID: 18469862) Bae J.B. … Legerski R.J. (Oncogene 2008) 3 4 64

Products for DCLRE1B Gene

Sources for DCLRE1B Gene

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