SHQ1
SHQ1, H/ACA Ribonucleoprotein Assembly Factor
Gene Information Card
| Symbol | SHQ1 |
|---|---|
| Full Name | SHQ1, H/ACA Ribonucleoprotein Assembly Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 3p13 |
| NCBI Gene ID | 55164 ncbi.nlm.nih.gov/gene/55164 |
| Ensembl ID | ENSG00000144677 |
| UniProt ID | Q6PI26 |
| OMIM ID | 613663 |
| HGNC ID | 25543 |
| Aliases | DKCB4, FLJ20184, SHQ1p |
Description
SHQ1 encodes a protein essential for the assembly of H/ACA small nucleolar ribonucleoproteins (snoRNPs) and telomerase. It acts as a chaperone that binds dyskerin (DKC1) and facilitates the incorporation of the H/ACA RNA component. Mutations in SHQ1 cause autosomal recessive dyskeratosis congenita type 4 (DKCB4), a disorder of telomere maintenance characterized by bone marrow failure, skin pigmentation abnormalities, and nail dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis Congenita, Autosomal Recessive 4 (DKCB4) | Loss-of-function mutations impair H/ACA RNP assembly, reducing telomerase activity and telomere shortening | ClinVar, OMIM |
| Pulmonary Fibrosis (idiopathic) | Heterozygous SHQ1 variants may contribute to telomere dysfunction and lung fibrosis | ClinVar, literature |
| Aplastic Anemia | Telomere attrition due to SHQ1 deficiency leads to hematopoietic stem cell failure | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 10.2 | Medium |
| Lymph Node | 8.9 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 14.7 | High expression |
| HeLa (cervical) | 9.8 | Moderate expression |
| HepG2 (liver) | 6.5 | Low expression |
| A549 (lung) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1175G>A (p.Arg392His) | Missense | Rare | Impaired dyskerin binding; loss of function |
| c.1438C>T (p.Arg480*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SHQ1 mutations are loss-of-function, leading to reduced H/ACA RNP assembly and telomere shortening.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • nucleus (GO:0005634) |
| • intracellular ribonucleoprotein complex (GO:0030529) | • box H/ACA snoRNP assembly (GO:0000452) |
| • telomere maintenance via telomerase (GO:0007004) |
Pathways
• Telomere maintenance (telomerase)
• H/ACA snoRNP assembly
• rRNA pseudouridylation
Protein Summary
SHQ1 is a 644-amino acid protein localized to the nucleolus. It functions as a dedicated assembly factor for H/ACA RNPs, including telomerase. The N-terminal domain binds dyskerin, while the C-terminal region interacts with other assembly factors. SHQ1 is essential for telomere homeostasis and ribosome biogenesis.
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