DCLRE1B

Protein-coding gene in the species Homo sapiens

DCLRE1B
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

3BUA, 5AHO

Identifiers
AliasesDCLRE1B, APOLLO, SNM1B, SNMIB, DNA cross-link repair 1B
External IDsOMIM: 609683; MGI: 2156057; HomoloGene: 32553; GeneCards: DCLRE1B; OMA:DCLRE1B - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for DCLRE1B
Genomic location for DCLRE1B
Band1p13.2Start113,905,213 bp[1]
End113,914,086 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for DCLRE1B
Genomic location for DCLRE1B
Band3|3 F2.2Start103,707,921 bp[2]
End103,716,760 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • secondary oocyte

  • gonad

  • ganglionic eminence

  • ventricular zone

  • monocyte

  • skin of hip

  • testicle

  • granulocyte

  • bone marrow

  • trabecular bone
Top expressed in
  • granulocyte

  • blood

  • otic vesicle

  • cumulus cell

  • yolk sac

  • endocardial cushion

  • external carotid artery

  • abdominal wall

  • ventricular zone

  • tail of embryo
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • 5'-3' exonuclease activity
  • 5'-3' exodeoxyribonuclease activity
  • damaged DNA binding
  • protein binding
  • nuclease activity
  • exonuclease activity
  • hydrolase activity
  • protein homodimerization activity
  • protein-containing complex binding
Cellular component
  • cytoplasm
  • centrosome
  • chromosome
  • microtubule organizing center
  • telomere
  • cytoskeleton
  • nucleus
  • nucleoplasm
  • nuclear body
Biological process
  • cell cycle checkpoint signaling
  • protection from non-homologous end joining at telomere
  • telomeric 3' overhang formation
  • cellular response to DNA damage stimulus
  • double-strand break repair via nonhomologous end joining
  • telomere maintenance
  • telomeric loop formation
  • DNA repair
  • nucleic acid phosphodiester bond hydrolysis
  • telomere maintenance via telomere lengthening
  • telomere capping
  • interstrand cross-link repair
  • mitotic cell cycle checkpoint signaling
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

64858

140917

Ensembl

ENSG00000118655

ENSMUSG00000027845

UniProt

Q9H816

Q8C7W7

RefSeq (mRNA)

NM_022836
NM_001319946
NM_001319947
NM_001363690
NM_001363691

NM_001025312
NM_133865

RefSeq (protein)

NP_001306875
NP_001306876
NP_073747
NP_001350619
NP_001350620

NP_001020483
NP_598626

Location (UCSC)Chr 1: 113.91 – 113.91 MbChr 3: 103.71 – 103.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene.[5]

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).[supplied by OMIM][5]

Function

The DCLRE1B/SNM1B/Apollo protein is a repair exonuclease that digests double-stranded and single-stranded DNA with a 5’ to 3’ directionality.[6]

Using an SNM1B/Apollo knockout mouse model, evidence was obtained that SNM1B/Apollo protein is required to protect telomeres against illegitimate non-homologous end joining that can result in genomic instability and consequently in multi-organ developmental failure.[7]

In a human patient with Hoyeraal-Hreidarsson syndrome, a dominant negative mutation in the SNM1B/Apollo gene was discovered.[8] This mutation hampered the proper replication of telomeres, leading to major telomeric dysfunction and cellular senescence. SNM1B/Apollo protein appears to be a crucial factor in telomere maintenance, independent of its function in repairing DNA inter-strand crosslinks.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000118655 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027845 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)".
  6. ^ Sengerová B, Allerston CK, Abu M, Lee SY, Hartley J, Kiakos K, Schofield CJ, Hartley JA, Gileadi O, McHugh PJ (2012). "Characterization of the human SNM1A and SNM1B/Apollo DNA repair exonucleases". J. Biol. Chem. 287 (31): 26254–67. doi:10.1074/jbc.M112.367243. PMC 3406710. PMID 22692201.
  7. ^ Akhter S, Lam YC, Chang S, Legerski RJ (2010). "The telomeric protein SNM1B/Apollo is required for normal cell proliferation and embryonic development". Aging Cell. 9 (6): 1047–56. doi:10.1111/j.1474-9726.2010.00631.x. PMC 3719988. PMID 20854421.
  8. ^ a b Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P (2010). "Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome". Proc. Natl. Acad. Sci. U.S.A. 107 (22): 10097–102. Bibcode:2010PNAS..10710097T. doi:10.1073/pnas.0914918107. PMC 2890423. PMID 20479256.

Further reading

  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Demuth I, Digweed M, Concannon P (2004). "Human SNM1B is required for normal cellular response to both DNA interstrand crosslink-inducing agents and ionizing radiation". Oncogene. 23 (53): 8611–8. doi:10.1038/sj.onc.1207895. PMID 15467758. S2CID 10082205.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Ishiai M, Kimura M, Namikoshi K, et al. (2004). "DNA cross-link repair protein SNM1A interacts with PIAS1 in nuclear focus formation". Mol. Cell. Biol. 24 (24): 10733–41. doi:10.1128/MCB.24.24.10733-10741.2004. PMC 533992. PMID 15572677.
  • Freibaum BD, Counter CM (2006). "hSnm1B is a novel telomere-associated protein". J. Biol. Chem. 281 (22): 15033–6. doi:10.1074/jbc.C600038200. PMID 16606622.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Lenain C, Bauwens S, Amiard S, et al. (2006). "The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair". Curr. Biol. 16 (13): 1303–10. Bibcode:2006CBio...16.1303L. doi:10.1016/j.cub.2006.05.021. PMID 16730175.
  • van Overbeek M, de Lange T (2006). "Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase". Curr. Biol. 16 (13): 1295–302. Bibcode:2006CBio...16.1295V. doi:10.1016/j.cub.2006.05.022. PMID 16730176. S2CID 121737.


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