DKC1 binds SHQ1

Stable Identifier
R-HSA-9671145
Type
Reaction [binding]
Species
Homo sapiens
Compartment
ReviewStatus
5/5
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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
Participants
Participates
Orthologous Events
Authored
Reviewed
Created
Cite Us!