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] See more...

Aliases for DCLRE1B Gene

Aliases for DCLRE1B Gene

  • DNA Cross-Link Repair 1B 2 3 5
  • SNM1B 2 3 4
  • DNA Cross-Link Repair 1B (PSO2 Homolog, S. Cerevisiae) 2 3
  • 5' Exonuclease Apollo 3 4
  • SNM1 Homolog B 3 4
  • APOLLO 2 3
  • SNMIB 3 4
  • DNA Cross-Link Repair 1B Protein 4
  • PSO2 Homolog (S. Cerevisiae) 2
  • PSO2 Homolog 3
  • EC 3.1.-.- 4
  • FLJ12810 2
  • FLJ13998 2
  • DCLRE1B 5
  • 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 Hoyeraal Hreidarsson Syndrome and Dyskeratosis Congenita. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include 5'-3' exonuclease activity. An important paralog of this gene is DCLRE1C.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCLRE1B Gene

Genomics for DCLRE1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DCLRE1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCLRE1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCLRE1B

Top Transcription factor binding sites by QIAGEN in the DCLRE1B gene promoter:
  • Bach2
  • c-Myc
  • HEN1
  • HFH-1
  • Lmo2
  • Max
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • Zic1

Genomic Locations for DCLRE1B Gene

Latest Assembly
chr1:113,904,619-113,914,086
(GRCh38/hg38)
Size:
9,468 bases
Orientation:
Plus strand

Previous Assembly
chr1:114,447,241-114,456,708
(GRCh37/hg19 by Entrez Gene)
Size:
9,468 bases
Orientation:
Plus strand

chr1:114,447,763-114,456,708
(GRCh37/hg19 by Ensembl)
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.
    SequenceCaution:
    • Sequence=BAB14284.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    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.

    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 Lys333
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for DCLRE1B Gene

Domains & Families for DCLRE1B Gene

Gene Families for DCLRE1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DCLRE1B Gene

Suggested Antigen Peptide Sequences for DCLRE1B Gene

GenScript: Design optimal peptide antigens:
  • SNM1 homolog B (DCR1B_HUMAN)

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

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

Phenotypes From GWAS Catalog 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 21873635
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0005515 protein binding IPI 16730175
GO:0008409 5'-3' exonuclease activity IEA,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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCLRE1B

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCLRE1B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 1
mitochondrion 1
cytosol 1
golgi apparatus 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCLRE1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region HDA,IDA 24270157
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with DCLRE1B: view

Pathways & Interactions for DCLRE1B Gene

PathCards logo

SuperPathways 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:0000723 telomere maintenance IMP 20655466
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007093 mitotic cell cycle checkpoint IMP 19197158
genes like me logo Genes that share ontologies with DCLRE1B: view

No data available for SIGNOR curated interactions for DCLRE1B Gene

Drugs & Compounds for DCLRE1B Gene

No Compound Related Data Available

Transcripts for DCLRE1B Gene

mRNA/cDNA for DCLRE1B Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCLRE1B

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

Expression for DCLRE1B Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Bone (Muscoskeletal System)

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 and MOPED for DCLRE1B Gene



Protein tissue co-expression partners for DCLRE1B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCLRE1B

SOURCE GeneReport for Unigene cluster for DCLRE1B Gene:

Hs.591412

Evidence on tissue expression from TISSUES for DCLRE1B Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with DCLRE1B: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.69 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DCLRE1B 29 30
  • 86.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dclre1b 29
  • 86.38 (n)
Dog
(Canis familiaris)
Mammalia DCLRE1B 29 30
  • 85.97 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DCLRE1B 30
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dclre1b 29 16 30
  • 81.21 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DCLRE1B 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DCLRE1B 29 30
  • 62.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DCLRE1B 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dclre1b 29
  • 57.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii dclre1b 29 30
  • 59.5 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Snm1 30
  • 13 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PSO2 30
  • 14 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G27410 29
  • 50.55 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0783400 29
  • 49.89 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToOne
Species where no ortholog for DCLRE1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DCLRE1B: view image
Alliance of Genome Resources:
Additional Orthologs for DCLRE1B

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCLRE1B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1007052 Uncertain Significance: Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 113,911,685(+) C/G
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu)
MISSENSE
1009099 Uncertain Significance: Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 113,905,774(+) A/C
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1010600 Uncertain Significance: Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 113,911,830(+) T/C
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala)
MISSENSE
1014253 Uncertain Significance: Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 113,912,189(+) T/C
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg)
STOP_LOST,THREE_PRIME_UTR
1015208 Uncertain Significance: Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 113,911,869(+) C/T
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DCLRE1B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for DCLRE1B Gene

Human Gene Mutation Database (HGMD)
DCLRE1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCLRE1B
Leiden Open Variation Database (LOVD)
DCLRE1B

SNP Genotyping and Copy Number Assays for research

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

Disorders for DCLRE1B Gene

MalaCards: The human disease database

(6) MalaCards diseases for DCLRE1B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
hoyeraal hreidarsson syndrome
  • cerebellar hypoplasia with pancytopenia
dyskeratosis congenita
  • zinsser-cole-engman syndrome
spastic paraplegia 47
  • spastic paraplegia, type 47
spastic paraplegia 47, autosomal recessive
  • spg47
interstitial nephritis, karyomegalic
  • kmin
- 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}.

Additional Disease Information for 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. Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome. (PMID: 20479256) Touzot F … Revy P (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  2. TRF2 and apollo cooperate with topoisomerase 2alpha to protect human telomeres from replicative damage. (PMID: 20655466) Ye J … Gilson E (Cell 2010) 3 4
  3. SNM1B/Apollo interacts with astrin and is required for the prophase cell cycle checkpoint. (PMID: 19197158) Liu L … Legerski R (Cell cycle (Georgetown, Tex.) 2009) 3 4
  4. Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response. (PMID: 19411856) Anders M … Demuth I (Cell cycle (Georgetown, Tex.) 2009) 3 4
  5. Snm1B/Apollo mediates replication fork collapse and S Phase checkpoint activation in response to DNA interstrand cross-links. (PMID: 18469862) Bae JB … Legerski RJ (Oncogene 2008) 3 4

Products for DCLRE1B Gene

Sources for DCLRE1B Gene