Protein-coding gene in the species Homo sapiens
DCLRE1B |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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3BUA, 5AHO |
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Identifiers |
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Aliases | DCLRE1B, APOLLO, SNM1B, SNMIB, DNA cross-link repair 1B |
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External IDs | OMIM: 609683; MGI: 2156057; HomoloGene: 32553; GeneCards: DCLRE1B; OMA:DCLRE1B - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1p13.2 | Start | 113,905,213 bp[1] |
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End | 113,914,086 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3|3 F2.2 | Start | 103,707,921 bp[2] |
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End | 103,716,760 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - secondary oocyte
- gonad
- ganglionic eminence
- ventricular zone
- monocyte
- skin of hip
- testicle
- granulocyte
- bone marrow
- trabecular bone
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| Top expressed in | - granulocyte
- blood
- otic vesicle
- cumulus cell
- yolk sac
- endocardial cushion
- external carotid artery
- abdominal wall
- ventricular zone
- tail of embryo
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_022836 NM_001319946 NM_001319947 NM_001363690 NM_001363691 |
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RefSeq (protein) | |
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NP_001306875 NP_001306876 NP_073747 NP_001350619 NP_001350620 |
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Location (UCSC) | Chr 1: 113.91 – 113.91 Mb | Chr 3: 103.71 – 103.72 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000118655 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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.
- ^ 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.