SHQ1 Gene Summary [Human]
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Details
| Type | Processed Transcript |
| Official Symbol | SHQ1 |
| Official Name | SHQ1, H/ACA ribonucleoprotein assembly factor [Source:HGNC Symbol;Acc:HGNC:25543] |
| Ensembl ID | ENSG00000144736 |
| Bio databases IDs | |
| Aliases | SHQ1, H/ACA ribonucleoprotein assembly factor |
| Synonyms | 2810403P18Rik, DYT35, GRIM-1, NEDDS, RGD1310610, SHQ1, H/ACA ribonucleoprotein assembly factor, SHQ1 homolog (S. cerevisiae), Shq1p |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SHQ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- SHQ1 protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- childhood-onset dystonia type 35
- metabolic syndrome X
- cachexia
- neurodevelopmental disorder with dystonia and seizures
role in cell
- binding in
- apoptosis
- growth
- temperature sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SHQ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- box H/ACA snoRNP assembly
- positive regulation of apoptotic process
- ribonucleoprotein complex assembly
- negative regulation of rRNA processing
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- Cajal body
- cytosol
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- unfolded protein binding