SHQ1 Gene

Name	SHQ1, H/ACA ribonucleoprotein assembly factor
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSHQ1 is a critical factor for the assembly and proper functioning of H/ACA ribonucleoprotein particles. At the molecular level, it facilitates the pseudouridylation of small nuclear RNAs and is essential for rRNA processing and spliceosome function. Structural investigations have revealed that distinct domains of SHQ1 mediate its interaction with core partners such as dyskerin, NAF1, and related proteins, thereby ensuring the correct assembly and stability of the complex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn cancer, SHQ1 plays context‐dependent roles that can be either oncogenic or tumor suppressive. In T-cell acute lymphoblastic leukemia, for example, oncogenic NOTCH1 directly activates SHQ1 transcription to sustain efficient RNA splicing of critical genes such as MYC, with its loss leading to impaired splicing and tumor cell death. In contrast, studies in hepatocellular carcinoma and non-small cell lung cancer indicate that the protein (also known as GRIM-1) can promote apoptosis and enhance chemosensitivity—possibly through its interaction with endoplasmic reticulum chaperones like GRP78—thus acting as a tumor suppressor."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "3", "end_ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic studies have further implicated SHQ1 in neurodevelopment. Biallelic variants in SHQ1 have been associated with early-onset movement disorders, including dystonia and neurodegeneration, as well as cerebellar atrophy and autonomic dysfunction. The loss of proper SHQ1 function compromises snoRNP biogenesis and rRNA maturation, thereby adversely affecting neuronal development and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mahavir Singh, Zhonghua Wang, Duilio Cascio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jmb.2014.12.012"}], "href": "https://doi.org/10.1016/j.jmb.2014.12.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25553844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25553844"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Shreeram C Nallar, Limei Lin, Varsha Srivastava, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GRIM-1, a novel growth suppressor, inhibits rRNA maturation by suppressing small nucleolar RNAs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0024082"}], "href": "https://doi.org/10.1371/journal.pone.0024082"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21931644"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21931644"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hexiu Su, Juncheng Hu, Liang Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-06523-4"}], "href": "https://doi.org/10.1038/s41467-018-06523-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30323192"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30323192"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Huimin Liu, Siqi Xie, Fang Fang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-020-2656-0"}], "href": "https://doi.org/10.1038/s41419-020-2656-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32522979"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32522979"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hui-Mei Wu, Zi-Feng Jiang, Xiao-Yun Fan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Pathol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.humpath.2014.04.023"}], "href": "https://doi.org/10.1016/j.humpath.2014.04.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25081541"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25081541"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sophie Sleiman, Aren E Marshall, Xiaomin Dong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddab247"}], "href": "https://doi.org/10.1093/hmg/ddab247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34542157"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34542157"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ching-Shiang Chi, Chi-Ren Tsai, Hsiu-Fen Lee "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-023-02533-5"}], "href": "https://doi.org/10.1007/s00439-023-02533-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36847845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36847845"}]}]}]}
Synonyms	GRIM-1, SHQ1P
Proteins	SHQ1_HUMAN
NCBI Gene ID	55164
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SHQ1 has 5,178 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 104 datasets.

Click the + buttons to view associations for SHQ1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SHQ1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SHQ1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of SHQ1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SHQ1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SHQ1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SHQ1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SHQ1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SHQ1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SHQ1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SHQ1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SHQ1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SHQ1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SHQ1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SHQ1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SHQ1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SHQ1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SHQ1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with SHQ1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SHQ1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SHQ1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SHQ1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SHQ1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SHQ1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SHQ1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SHQ1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SHQ1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of SHQ1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving SHQ1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SHQ1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SHQ1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SHQ1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SHQ1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SHQ1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SHQ1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SHQ1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SHQ1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SHQ1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SHQ1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SHQ1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of SHQ1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of SHQ1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.