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	OMIM: 609683 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; • GO:0001948 protein binding; • nuclease activity; • exonuclease activity; • hydrolase activity; • protein homodimerization activity; • GO:0032403 macromolecular complex binding;
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; • mitotic cell cycle checkpoint;
	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

GRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000027845 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"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.
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] GRCh38: Ensembl release 89: ENSG00000118655 - Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[entrez-5] "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] 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