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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SHQ1
SHQ1, H/ACA ribonucleoprotein assembly factor
Chromosome 3 Β· 3p13
NCBI Gene: 55164Ensembl: ENSG00000144736.15HGNC: HGNC:25543UniProt: Q6PI26
34PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmcytoplasmtelomerase RNA localization to Cajal bodyprotein bindingneurodevelopmental disorder with dystonia and seizuresdystonia 28, childhood-onsettype 2 diabetes mellitusearly-onset generalized limb-onset dystonia
✦AI Summary

SHQ1 is an essential chaperone protein that assembles H/ACA ribonucleoproteins (RNPs), including telomerase, by stabilizing and escorting the pseudouridine synthase dyskerin from the cytoplasm to the nucleus 1. In the nucleus, SHQ1 facilitates dyskerin's incorporation into H/ACA snoRNPs, which catalyze pseudouridine formation in ribosomal RNAs and promote pre-rRNA maturation 12. SHQ1 binds dyskerin through its conserved CS and Shq1-specific domains, protecting the enzyme from aggregation and non-specific RNA binding before H/ACA RNA assembly 32. Loss-of-function mutations in SHQ1 impair dyskerin stabilization and H/ACA snoRNP biogenesis, leading to accumulated unprocessed pre-rRNAs and reduced ribosome production 1. Clinically, biallelic SHQ1 variants cause neurodevelopmental disorders with early-onset hypotonia, paroxysmal dystonia, and cerebellar degeneration, associated with dopaminergic pathway dysfunction 4. Additionally, SHQ1 deletion at chromosome 3-14 acts as a tumor suppressor, cooperating with PTEN loss to accelerate prostate cancer progression 56, while SHQ1 promotes chemotherapy sensitivity in hepatocellular carcinoma through ER-stress response mechanisms 7.

Sources cited
1
SHQ1 is a chaperone that binds dyskerin and escorts it to the nucleus for H/ACA snoRNP assembly; mutations impair dyskerin stability and H/ACA snoRNA accumulation
PMID: 37818102
2
SHQ1's Shq1-specific domain contacts dyskerin's PUA domain and C-terminal extension; SHQ1 functions as an assembly chaperone protecting Cbf5 from aggregation
PMID: 22117216
3
SHQ1 contains conserved CS and SSD domains; CS domain is important for dyskerin binding
PMID: 25553844
4
Biallelic SHQ1 variants cause early-onset neurodevelopmental disorder with hypotonia, paroxysmal dystonia, cerebellar atrophy, and dopaminergic pathway dysfunction
PMID: 36847845
5
SHQ1 is implicates as a potential cooperative tumor suppressor at chromosome 3p14 in prostate cancer
PMID: 20579941
6
FOXP1-SHQ1 deletion cooperates with PTEN loss to accelerate prostate oncogenesis and is associated with cancer recurrence
PMID: 29057879
7
SHQ1 promotes tumor apoptosis and chemotherapy sensitivity in hepatocellular carcinoma through ER-stress response mechanisms
PMID: 32522979
Disease Associationsβ“˜22
neurodevelopmental disorder with dystonia and seizuresOpen Targets
0.75Strong
dystonia 28, childhood-onsetOpen Targets
0.67Moderate
type 2 diabetes mellitusOpen Targets
0.44Moderate
early-onset generalized limb-onset dystoniaOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.28Weak
CachexiaOpen Targets
0.24Weak
neoplasmOpen Targets
0.09Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
chronic myelogenous leukemiaOpen Targets
0.02Suggestive
leukodystrophyOpen Targets
0.02Suggestive
Dystonia 35, childhood-onsetUniProt
Neurodevelopmental disorder with dystonia and seizuresUniProt
Pathogenic Variants3
NM_018130.3(SHQ1):c.332-1G>CPathogenic
Neurodevelopmental disorder with dystonia and seizures
β˜…β˜†β˜†β˜†2026
NM_018130.3(SHQ1):c.195T>A (p.Tyr65Ter)Pathogenic
not specified
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_018130.3(SHQ1):c.563C>T (p.Ala188Val)Likely pathogenic
Neurodevelopmental disorder with dystonia and seizures
β˜†β˜†β˜†β˜†2025β†’ Residue 188
View on ClinVar β†—
Related Genes
DKC1Protein interaction100%TRUB2Protein interaction100%GAR1Protein interaction100%NOP58Protein interaction99%TRUB1Protein interaction93%NHP2Protein interaction81%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
71%
Ovary
58%
Lung
52%
Liver
51%
Brain
46%
Gene Interaction Network
Click a node to explore
SHQ1DKC1TRUB2GAR1NOP58TRUB1NHP2
PROTEIN STRUCTURE
Preparing viewer…
PDB4PBD Β· 1.68 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.97 [0.77–1.24]
RankingsWhere SHQ1 stands among ~20K protein-coding genes
  • #11,237of 20,598
    Most Researched34
  • #4,104of 5,498
    Most Pathogenic Variants3
  • #13,069of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSHQ1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Integrative genomic profiling of human prostate cancer.
PMID: 20579941
Cancer Cell Β· 2010
1.00
2
Human
PMID: 37818102
Front Genet Β· 2023
0.90
3
Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1.
PMID: 25553844
J Mol Biol Β· 2015
0.80
4
SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.
PMID: 32522979
Cell Death Dis Β· 2020
0.70
5
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.
PMID: 22117216
EMBO J Β· 2011
0.60