Regulator of telomere elongation helicase 1, harmonin homology domain
Short name | HHD_RTEL1 |
Description
References
1.A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. PLoS Genet. 9, e1003695, (2013). View articlePMID: 24009516
2.RTEL1 maintains genomic stability by suppressing homologous recombination. Barber LJ, Youds JL, Ward JD, McIlwraith MJ, O'Neil NJ, Petalcorin MI, Martin JS, Collis SJ, Cantor SB, Auclair M, Tissenbaum H, West SC, Rose AM, Boulton SJ. Cell 135, 261-71, (2008). View articlePMID: 18957201
3.Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA. Schertzer M, Jouravleva K, Perderiset M, Dingli F, Loew D, Le Guen T, Bardoni B, de Villartay JP, Revy P, Londono-Vallejo A. Nucleic Acids Res. 43, 1834-47, (2015). View articlePMID: 25628358
4.RTEL1: functions of a disease-associated helicase. Vannier JB, Sarek G, Boulton SJ. Trends Cell Biol. 24, 416-25, (2014). View articlePMID: 24582487
5.TRF2 Recruits RTEL1 to Telomeres in S Phase to Promote T-Loop Unwinding. Sarek G, Vannier JB, Panier S, Petrini JH, Boulton SJ. Mol. Cell 57, 622-35, (2015). View articlePMID: 25620558
6.dRTEL1 is essential for the maintenance of Drosophila male germline stem cells. Yang Y, Kong R, Goh FG, Somers WG, Hime GR, Li Z, Cai Y. PLoS Genet 17, e1009834, (2021). PMID: 34644293
7.The many faces of the helicase RTEL1 at telomeres and beyond. Hourvitz N, Awad A, Tzfati Y. Trends Cell Biol S0962-8924(23)00135-6, (2023). View articlePMID: 37532653
8.Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1. Kumar N, Ghosh M, Manikandan P, Basak S, Deepa A, Singh M. Biomol NMR Assign 16, 159-164, (2022). View articlePMID: 35320499
9.Genome-wide association study of glioma and meta-analysis. Rajaraman P, Melin BS, Wang Z, McKean-Cowdin R, Michaud DS, Wang SS, Bondy M, Houlston R, Jenkins RB, Wrensch M, Yeager M, Ahlbom A, Albanes D, Andersson U, Freeman LE, Buring JE, Butler MA, Braganza M, Carreon T, Feychting M, Fleming SJ, Gapstur SM, Gaziano JM, Giles GG, Hallmans G, Henriksson R, Hoffman-Bolton J, Inskip PD, Johansen C, Kitahara CM, Lathrop M, Liu C, Le Marchand L, Linet MS, Lonn S, Peters U, Purdue MP, Rothman N, Ruder AM, Sanson M, Sesso HD, Severi G, Shu XO, Simon M, Stampfer M, Stevens VL, Visvanathan K, White E, Wolk A, Zeleniuch-Jacquotte A, Zheng W, Decker P, Enciso-Mora V, Fridley B, Gao YT, Kosel M, Lachance DH, Lau C, Rice T, Swerdlow A, Wiemels JL, Wiencke JK, Shete S, Xiang YB, Xiao Y, Hoover RN, Fraumeni JF Jr, Chatterjee N, Hartge P, Chanock SJ. Hum Genet 131, 1877-88, (2012). PMID: 22886559
10.Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Wrensch M, Jenkins RB, Chang JS, Yeh RF, Xiao Y, Decker PA, Ballman KV, Berger M, Buckner JC, Chang S, Giannini C, Halder C, Kollmeyer TM, Kosel ML, LaChance DH, McCoy L, O'Neill BP, Patoka J, Pico AR, Prados M, Quesenberry C, Rice T, Rynearson AL, Smirnov I, Tihan T, Wiemels J, Yang P, Wiencke JK. Nat Genet 41, 905-8, (2009). PMID: 19578366
Cross References
ENZYME
Contributing Member Database Entry
- CDD:cd13932