DCLRE1B

DCLRE1B
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3BUA, 5AHO
Identifiers
Aliases	DCLRE1B, APOLLO, SNM1B, SNMIB, DNA cross-link repair 1B
External IDs	MGI: 2156057 HomoloGene: 32553 GeneCards: DCLRE1B
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	113,914,086 bp[1]
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)[2]
End	103,809,444 bp[2]
RNA expression pattern
	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;
Cellular component	• cytoplasm; • centrosome; • chromosome; • microtubule organizing center; • chromosome, telomeric region; • cytoskeleton; • nuclear chromosome, telomeric region; • cell nucleus; • nucleoplasm; • nuclear body;
Biological process	• cell cycle checkpoint; • 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;
	Sources:Amigo / QuickGO
Orthologs
	64858
	140917
	ENSG00000118655
	ENSMUSG00000027845
	Q9H816
	Q8C7W7
	NM_022836; NM_001319946; NM_001319947; NM_001363690; NM_001363691
	NM_001025312; NM_133865
	NP_001306875; NP_001306876; NP_073747; NP_001350619; NP_001350620
	NP_001020483; NP_598626
	Wikidata
View/Edit Human	View/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 instabilityy 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 2 3 GRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027845 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
1 2 "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)".
↑ 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.
↑ 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.
1 2 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. doi:10.1073/pnas.0914918107. PMC 2890423. PMID 20479256.

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. 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.
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. 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. 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. doi:10.1016/j.cub.2006.05.022. PMID 16730176.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027845 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[entrez-5] 1 2 "Entrez Gene: DCLRE1B DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)".

[pmid22692201-6] 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.

[pmid20854421-7] 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.

[pmid20479256-8] 1 2 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. doi:10.1073/pnas.0914918107. PMC 2890423. PMID 20479256.

DCLRE1B

Function

References

Further reading