Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55164
MIM: 613663
HGNC: 25543
Ensembl: ENSG00000144736
Variants:
dbSNP: 55164
ClinVar: 55164
TCGA: ENSG00000144736
COSMIC: SHQ1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36847845 | 2023 | Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. | 3 |
| 36847845 | 2023 | Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. | 3 |
| 34542157 | 2022 | Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. | 4 |
| 34542157 | 2022 | Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. | 4 |
| 32522979 | 2020 | SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response. | 4 |
| 32522979 | 2020 | SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response. | 4 |
| 30323192 | 2018 | SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival. | 21 |
| 30323192 | 2018 | SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival. | 21 |
| 25553844 | 2015 | Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1. | 8 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 25553844 | 2015 | Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1. | 8 |
| 26288249 | 2015 | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development. | 25 |
| 25081541 | 2014 | Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer. | 6 |
| 25081541 | 2014 | Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer. | 6 |
| 21931644 | 2011 | GRIM-1, a novel growth suppressor, inhibits rRNA maturation by suppressing small nucleolar RNAs. | 7 |
Citation
Dessen P
SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor)
Atlas Genet Cytogenet Oncol Haematol. 2012-03-01
Online version: http://atlasgeneticsoncology.org/gene/52641/shq1
