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Aliases for DCLRE1B Gene

Aliases for DCLRE1B Gene

  • DNA Cross-Link Repair 1B 2 3
  • APOLLO 2 3 6
  • SNM1B 3 4 6
  • DNA Cross-Link Repair 1B (PSO2 Homolog, S. Cerevisiae) 2 3
  • SNM1 Homolog B 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. GO annotations related to this gene include 5-3 exonuclease activity. An important paralog of this gene is DCLRE1A.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DCLRE1B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DCLRE1B Gene at MOPED

Post-translational modifications for DCLRE1B Gene

  • Ubiquitinated, leading to its degradation. Interaction with TERF2 protects it from ubiquitination.
  • Ubiquitination at Lys333
  • 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 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 :
  • Q9H816
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: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

CRISPR Products

miRNA for DCLRE1B Gene

No data available for Transcription Factor Targeting 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 IDA 16730175
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 19197158
genes like me logo Genes that share ontologies with DCLRE1B: view

Pathways for DCLRE1B Gene

SuperPathways for DCLRE1B Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0031627 telomeric loop formation ISS --
GO:0031848 protection from non-homologous end joining at telomere IMP 16730175
genes like me logo Genes that share ontologies with DCLRE1B: view

No data available for Pathways by source for DCLRE1B Gene

Transcripts for DCLRE1B Gene

mRNA/cDNA for DCLRE1B Gene

Unigene Clusters for DCLRE1B Gene

DNA cross-link repair 1B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DCLRE1B

Primer 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 for DCLRE1B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DCLRE1B Gene

SOURCE GeneReport for Unigene cluster for DCLRE1B Gene Hs.591412

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

In Situ Assay 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 35
  • 99.69 (n)
  • 99.81 (a)
DCLRE1B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DCLRE1B 35
  • 86.44 (n)
  • 83.27 (a)
DCLRE1B 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DCLRE1B 35
  • 85.97 (n)
  • 83.78 (a)
DCLRE1B 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dclre1b 35
  • 81.21 (n)
  • 78.67 (a)
Dclre1b 16
Dclre1b 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCLRE1B 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1B 36
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dclre1b 35
  • 86.38 (n)
  • 90.85 (a)
chicken
(Gallus gallus)
Aves DCLRE1B 35
  • 62.66 (n)
  • 62.57 (a)
DCLRE1B 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCLRE1B 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dclre1b 35
  • 57.75 (n)
  • 58.77 (a)
zebrafish
(Danio rerio)
Actinopterygii dclre1b 35
  • 59.5 (n)
  • 56.72 (a)
dclre1b 36
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Snm1 36
  • 13 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 36
  • 14 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G27410 35
  • 50.55 (n)
  • 42.91 (a)
rice
(Oryza sativa)
Liliopsida Os01g0783400 35
  • 49.89 (n)
  • 43.71 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for DCLRE1B:
  • 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 MAF
rs1054022 -- 113,913,768(+) AAAGT(A/C)AAAAA utr-variant-3-prime
rs1146148 -- 113,909,127(-) cagag(A/C)ctgcc intron-variant
rs1217390 -- 113,908,685(-) GGTAT(A/G)GATGA intron-variant
rs1217399 -- 113,907,556(+) cctcc(A/G)ccttc intron-variant
rs2455871 -- 113,913,682(+) CCACA(G/T)GATGG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv23869 CNV Loss 19812545

Relevant External Links for DCLRE1B Gene

HapMap Linkage Disequilibrium report
DCLRE1B

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

Disorders for DCLRE1B Gene

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}.

No disorders were found for DCLRE1B Gene.

Publications for DCLRE1B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation. (PMID: 15467758) Demuth I. … Concannon P. (Oncogene 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation. (PMID: 15572677) Ishiai M. … Takata M. (Mol. Cell. Biol. 2004) 3 4
  5. hSnm1B is a novel telomere-associated protein. (PMID: 16606622) Freibaum B.D. … Counter C.M. (J. Biol. Chem. 2006) 3 4

Products for DCLRE1B Gene

  • antibodies-online proteins for DCLRE1B
  • antibodies-online antibodies for DCLRE1B
  • antibodies-online kits for DCLRE1B

Sources for DCLRE1B Gene

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