Reactome | DKC1 binds SHQ1

DKC1 binds SHQ1

Stable Identifier

R-HSA-9671145

Type

Reaction [binding]

Species

Homo sapiens

Compartment

nucleoplasm

ReviewStatus

5/5

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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
19383767	SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs Roy, S, Meier, UT, Grozdanov, PN, Kittur, N	RNA	2009
19734544	Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita Meier, UT, Grozdanov, PN, Fiser, A, Fernandez-Fuentes, N	Hum. Mol. Genet.	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