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1 to 14 of 14  Show
  1. 9
    Cited for: FUNCTION, MUTAGENESIS OF LYS-48.
    Category: Function, Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 26 other entries.

  2. 11
    "Constitutional mutations in RTEL1 cause severe dyskeratosis congenita."
    Walne A.J., Vulliamy T., Kirwan M., Plagnol V., Dokal I.
    Am. J. Hum. Genet. 92:448-453(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANTS DKCB5 LYS-251; ILE-492; ARG-710; VAL-739; GLU-897; TRP-957 AND LEU-964, VARIANT DKCB5 HIS-509 (ISOFORM 5), VARIANT DKCB5 HIS-1264 (ISOFORMS 1 AND 6).
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  3. 17
    "A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome."
    Ballew B.J., Joseph V., De S., Sarek G., Vannier J.B., Stracker T., Schrader K.A., Small T.N., O'Reilly R., Manschreck C., Harlan Fleischut M.M., Zhang L., Sullivan J., Stratton K., Yeager M., Jacobs K., Giri N., Alter B.P.
    Petrini J.H.
    PLoS Genet. 9:E1003695-E1003695(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DKCB5 HIS-509 (ISOFORM 5) AND HIS-1264 (ISOFORMS 1 AND 6), FUNCTION, CHARACTERIZATION OF VARIANTS DKCB5 HIS-509 (ISOFORM 5) AND HIS-1264 (ISOFORMS 1 AND 6).
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  4. 18
    "The essential WD40 protein Cia1 is involved in a late step of cytosolic and nuclear iron-sulfur protein assembly."
    Balk J., Aguilar Netz D.J.A., Tepper K., Pierik A.J., Lill R.
    Mol. Cell. Biol. 25:10833-10841(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is cited by 1 and mapped to 18 other entries.

  5. 19
    "Structure of the yeast WD40 domain protein Cia1, a component acting late in iron-sulfur protein biogenesis."
    Srinivasan V., Netz D.J.A., Webert H., Mascarenhas J., Pierik A.J., Michel H., Lill R.
    Structure 15:1246-1257(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is cited by 1 and mapped to 8 other entries.

  6. 22
    Category: Function, Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:51750.

    This publication is mapped to 18735 other entries.

  7. 31
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-5686112.

    This publication is mapped to 32 other entries.

  8. 32
    "MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity."
    Stehling O., Vashisht A.A., Mascarenhas J., Jonsson Z.O., Sharma T., Netz D.J., Pierik A.J., Wohlschlegel J.A., Lill R.
    Science 337:195-199(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is cited by 4 and mapped to 11 other entries.

  9. 34
    "The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly."
    van Wietmarschen N., Moradian A., Morin G.B., Lansdorp P.M., Uringa E.J.
    J. Biol. Chem. 287:43351-43358(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is mapped to 17 other entries.

  10. 39
    Category: Function, Pathology & Biotech.
    Annotation: Authors propose that RTEL1 serves as a human analog of Srs2 to inhibit (CTGCAG) repeat expansions and fragility likely by unwinding problematic hairpins.
    Source: GeneRIF:51750.

    This publication is mapped to 3 other entries.

  11. 57
    Category: Function, Sequences.
    Annotation: Observation are firstly heterozygous LOF RTEL1 variants are associated with myelodysplasia and liver disease in adulthood. Secondly biallelic RTEL1 variants can present with just bone marrow failure in adulthood. Thirdly many heterozygous variants and even some biallelic RTEL1 variants are bystanders.
    Source: GeneRIF:51750.

    This publication is mapped to 2 other entries.

  12. 59
    Category: Function, Pathology & Biotech, Sequences.
    Annotation: a novel association signal in the RTEL1 gene (intronic single nucleotide poly morphism (SNP) rs2297439; P=2.82x10(-7)) that is independent of previously reported Telomere-associated SNPs in this region.
    Source: GeneRIF:51750.

    This publication is mapped to 2 other entries.

  13. 61
    Category: Function.
    Annotation: hRTEL1 contributes to the maintenance of long telomeres by preserving long G-overhangs thereby facilitating POT1 binding and elongation by telomerase.
    Source: GeneRIF:51750.

    This publication is mapped to 2 other entries.

  14. 62
    "Relative Telomere Length and Stroke Risk in a Chinese Han Population."
    Gao D., Zhang R., Ji G., Li C., Guo D., Jin T., Chen M.
    J. Mol. Neurosci. 66:475-481(2018) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Pathology & Biotech.
    Annotation: RTEL1 SNPs were associated with relative telomere length. Shorter relative telomere length was associated with an increased risk of stroke.
    Source: GeneRIF:51750.

    This publication is mapped to 2 other entries.

1 to 14 of 14  Show
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