DKC1 binds SHQ1

Stable Identifier
R-HSA-9671145
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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SHQ1 is an evolutionarily conserved protein involved in assembly of H/ACA ribonucleoparticles, including telomerase RNPs. SHQ1 binds to DKC1 (dyskerin) and, by sequestering DKC1, it regulates the step-wise functional assembly of the telomerase holoenzyme (Grozdanov, Roy et al. 2009). A subset of DKC1 (dyskerin) mutations that cause dyskeratosis congenita, a rare bone marrow failure syndrome, modulate the affinity of DKC1 for SHQ1, thus preventing the assembly of telomerase RNPs (Grozdanov, Fernandez-Fuentes et al. 2009). Rarely, mutations in SHQ1 that impair binding to DKC1 cause a dyskeratosis congenita-like disease phenotype (Bizarro and Meier 2017).

Literature References
PubMed ID Title Journal Year
19734544 Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita

Grozdanov, PN, Fernandez-Fuentes, N, Fiser, A, Meier, UT

Hum. Mol. Genet. 2009
19383767 SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

Grozdanov, PN, Roy, S, Kittur, N, Meier, UT

RNA 2009
29178645 Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita

Bizarro, J, Meier, UT

Mol Genet Genomic Med 2017
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