Details for: SHQ1

Gene ID: 55164

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: SHQ1

Ensembl ID: ENSG00000144736

Description: SHQ1, H/ACA ribonucleoprotein assembly factor

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • astrocyte of the cerebral cortex CL0002605
    CSI 5.17
    rCSI 11.6%
    PRS 81.02
  • cardiac endothelial cell CL0010008
    CSI 4.33
    rCSI 17.49%
    PRS 92.82
  • blood vessel endothelial cell CL0000071
    CSI 4.04
    rCSI 8.39%
    PRS 90.72
  • mucosal invariant T cell CL0000940
    CSI 3.63
    rCSI 2.94%
    PRS 96.04
  • melanocyte CL0000148
    CSI 3.63
    rCSI 2.69%
    PRS 89.17
  • plasmacytoid dendritic cell, human CL0001058
    CSI 3.34
    rCSI 2.33%
    PRS 94.89
  • Kupffer cell CL0000091
    CSI 3.23
    rCSI 7.4%
    PRS 93.09
  • regular ventricular cardiac myocyte CL0002131
    CSI 3.18
    rCSI 19.85%
    PRS 86.55
  • ciliated epithelial cell CL0000067
    CSI 3.09
    rCSI 2.71%
    PRS 84.2
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.91
    rCSI 7.37%
    PRS 87.1
  • lung ciliated cell CL1000271
    CSI 2.85
    rCSI 3.29%
    PRS 87.26
  • neural crest cell CL0011012
    CSI 2.83
    rCSI 2.24%
    PRS 86.09
  • retinal rod cell CL0000604
    CSI 2.74
    rCSI 4.84%
    PRS 88.44
  • choroid plexus epithelial cell CL0000706
    CSI 2.73
    rCSI 4.47%
    PRS 86.11
  • VIP GABAergic cortical interneuron CL4023016
    CSI 2.52
    rCSI 3%
    PRS 80.83
  • hepatic stellate cell CL0000632
    CSI 2.47
    rCSI 9.25%
    PRS 88.59
  • cerebral cortex endothelial cell CL1001602
    CSI 2.46
    rCSI 4.26%
    PRS 87.52
  • retinal bipolar neuron CL0000748
    CSI 2.36
    rCSI 4.42%
    PRS 84.81
  • rod bipolar cell CL0000751
    CSI 2.34
    rCSI 4.2%
    PRS 87.76
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.26
    rCSI 2.91%
    PRS 81.9
  • Schwann cell CL0002573
    CSI 2.23
    rCSI 6.34%
    PRS 89.1
  • renal beta-intercalated cell CL0002201
    CSI 2.2
    rCSI 5.25%
    PRS 92.32
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 2.2
    rCSI 2.73%
    PRS 78.64
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 2.07
    rCSI 4.72%
    PRS 85.73
  • lung secretory cell CL1000272
    CSI 2.05
    rCSI 5.06%
    PRS 93.02
  • chondrocyte CL0000138
    CSI 2.01
    rCSI 3.19%
    PRS 88.12
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.99
    rCSI 3.18%
    PRS 94
  • Bergmann glial cell CL0000644
    CSI 1.75
    rCSI 2.39%
    PRS 85.75
  • cardiac muscle cell CL0000746
    CSI 1.54
    rCSI 2.21%
    PRS 84.94
  • parietal epithelial cell CL1000452
    CSI 1.54
    rCSI 4.11%
    PRS 87.75
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 1.52
    rCSI 2.56%
    PRS 80.84
  • retinal pigment epithelial cell CL0002586
    CSI 1.46
    rCSI 2.89%
    PRS 89.2
  • pulmonary alveolar type 1 cell CL0002062
    CSI 1.38
    rCSI 7.94%
    PRS 89.89
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 0.92
    rCSI 2.23%
    PRS 78.66
  • L6b glutamatergic cortical neuron CL4023038
    CSI 0.81
    rCSI 2.52%
    PRS 82.08
  • blood vessel smooth muscle cell CL0019018
    CSI 0.73
    rCSI 5.9%
    PRS 90.31
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 0.68
    rCSI 2.57%
    PRS 81
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 0.68
    rCSI 2.44%
    PRS 78.93
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 0.61
    rCSI 1.92%
    PRS 83.73
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.6
    rCSI 14.47%
    PRS 78.79
  • direct pathway medium spiny neuron CL4023026
    CSI 0.34
    rCSI 8.06%
    PRS 78.62

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [SHQ1](/details-gene/55164) is a protein-coding gene located on chromosome 3 that encodes the SHQ1, H/ACA ribonucleoprotein assembly factor. This protein plays a critical role in the biogenesis of H/ACA small nucleolar ribonucleoproteins (snoRNPs) and the telomerase complex, which are essential for RNA modification and telomere maintenance, respectively. Functionally, [SHQ1](/details-gene/55164) is annotated in processes such as '[Box h/aca snornp assembly](/details-go/GO:0000493)' and pathways related to '[Chromosome maintenance](/details-pathway/R-HSA-73886)'. Its expression is widespread, with notable significance in diverse cell types including [astrocyte of the cerebral cortex](/details-cell/CL0002605), [cardiac endothelial cell](/details-cell/CL0010008), and various immune cells, suggesting a fundamental role in cellular homeostasis across multiple tissues. Inherited mutations in [SHQ1](/details-gene/55164) have been associated with neurological disorders and conditions related to dyskeratosis congenita [Link](https://doi.org/10.1002/mgg3.314). ## Cellular Roles and Expression Landscape The expression profile of [SHQ1](/details-gene/55164) suggests it is a broadly important factor for cellular function across diverse lineages, rather than a marker for a specific cell type. **Overall**, the gene shows the highest significance in a variety of specialized cells, indicating its fundamental role is required by multiple systems. Top cell types include those from the nervous system, such as [astrocyte of the cerebral cortex](/details-cell/CL0002605) (CSI: 5.17), and the vascular system, including [cardiac endothelial cell](/details-cell/CL0010008) (CSI: 4.33) and [blood vessel endothelial cell](/details-cell/CL0000071) (CSI: 4.04). This is consistent with a need for robust RNP assembly and telomere maintenance in long-lived glial cells and in endothelial cells that undergo turnover. Furthermore, [SHQ1](/details-gene/55164) is significantly expressed in components of both the innate and adaptive immune systems, including [mucosal invariant T cell](/details-cell/CL0000940) (CSI: 3.63), [plasmacytoid dendritic cell, human](/details-cell/CL0001058) (CSI: 3.34), and [Kupffer cell](/details-cell/CL0000091) (CSI: 3.23). Its presence in these cells highlights the importance of telomere maintenance for lymphocyte proliferation and the general housekeeping functions required for professional antigen-presenting cells. The gene's significance extends to other specialized cell types such as [melanocyte](/details-cell/CL0000148) (CSI: 3.63), [regular ventricular cardiac myocyte](/details-cell/CL0002131) (CSI: 3.18), and [ciliated epithelial cell](/details-cell/CL0000067) (CSI: 3.09), reinforcing its widespread biological importance. ## Pathways and Molecular Function The molecular functions of [SHQ1](/details-gene/55164) are centered on the assembly of essential ribonucleoprotein complexes. Gene Ontology annotations highlight its direct involvement in '[Box h/aca snornp assembly](/details-go/GO:0000493)' and general '[protein-rna complex assembly](/details-go/GO:0022618)'. Research has confirmed that [SHQ1](/details-gene/55164) is required for the biogenesis of both H/ACA snoRNPs and the telomerase RNP, acting prior to the incorporation of the NAF1 factor [Link](https://doi.org/10.1261/rna.1532109). The protein is predominantly localized to nuclear and cytoplasmic compartments where this assembly occurs, including the '[Cajal body](/details-go/GO:0015030)', '[nucleolus](/details-go/GO:0005730)', and '[cytoplasm](/details-go/GO:0005737)'. Consistent with its role in telomerase RNP assembly, [SHQ1](/details-gene/55164) is a key component of Reactome pathways governing genome stability, most notably '[Extension of telomeres](/details-pathway/R-HSA-180786)' and the broader '[Chromosome maintenance](/details-pathway/R-HSA-73886)' pathway. By facilitating the proper construction of telomerase, [SHQ1](/details-gene/55164) ensures the integrity of chromosome ends, which is critical for cellular proliferation and longevity. This function aligns with its significant expression in a wide array of cell types, many of which are long-lived or have proliferative potential. ## Research Directions The widespread expression of [SHQ1](/details-gene/55164) and its fundamental role in RNP biogenesis make it a critical gene for cellular health. Research has linked mutations in [SHQ1](/details-gene/55164) to a spectrum of clinical phenotypes, including features of dyskeratosis congenita and early-onset dystonia [Link](https://doi.org/10.1093/hmg/ddab247), pointing to cell-type-specific vulnerabilities to its dysfunction. Based on the available data, several testable hypotheses can be proposed: 1. **Hypothesis 1:** Given the high significance of [SHQ1](/details-gene/55164) in [astrocyte of the cerebral cortex](/details-cell/CL0002605) and its clinical association with neurological disorders, cell-type-specific defects in snoRNP-mediated RNA modification within astrocytes, caused by [SHQ1](/details-gene/55164) mutations, may be a primary driver of the pathogenesis of early-onset dystonia. 2. **Hypothesis 2:** The high expression of [SHQ1](/details-gene/55164) in [cardiac endothelial cell](/details-cell/CL0010008) and [regular ventricular cardiac myocyte](/details-cell/CL0002131) suggests that subtle haploinsufficiency of [SHQ1](/details-gene/55164) could accelerate cellular senescence in the cardiovascular system by impairing telomere maintenance, thereby contributing to age-related cardiac and vascular decline. To investigate the first hypothesis, a key experiment would be to generate a conditional knockout mouse model where [SHQ1](/details-gene/55164) is specifically deleted in astrocytes. These mice could then be subjected to a battery of motor function tests to assess for dystonia-like phenotypes. Subsequently, transcriptomic and proteomic analyses of isolated astrocytes from these mice would be performed to quantify defects in ribosome biogenesis, RNA pseudouridylation, and telomere length, directly linking molecular defects to the observed phenotype. **Therapeutic Potential:** Due to its essential, housekeeping function in RNP assembly, [SHQ1](/details-gene/55164) is not a suitable target for therapeutic inhibition, as this would likely lead to global cellular toxicity. However, for inherited loss-of-function disorders associated with [SHQ1](/details-gene/55164) mutations, therapeutic strategies aimed at **restoring or enhancing** its function are more relevant. This could involve gene therapy approaches to deliver a functional copy of the gene to affected cell populations or the development of small-molecule chaperones designed to stabilize the mutant SHQ1 protein and improve its interaction with partners like dyskerin [Link](https://doi.org/10.1002/mgg3.314), thereby rescuing RNP assembly.

Genular Protein ID: 883461096

Symbol: SHQ1_HUMAN

Name: Protein SHQ1 homolog

UniProtKB Accession Codes:

Q6PI26 B4DL05 Q6MZJ4 Q7Z748 Q9H7E5 Q9NVS8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 19383767

Title: SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs.

PubMed ID: 19383767

DOI: 10.1261/rna.1532109

PubMed ID: 29178645

Title: Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.

PubMed ID: 29178645

DOI: 10.1002/mgg3.314

PubMed ID: 34542157

Title: Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

PubMed ID: 34542157

DOI: 10.1093/hmg/ddab247

Sequence Information:

  • Length: 577
  • Mass: 65125
  • Checksum: 277C2FC532A4D570
  • Sequence:
    • MLTPAFDLSQ DPDFLTIAIR VPYARVSEFD VYFEGSDFKF YAKPYFLRLT LPGRIVENGS 
EQGSYDADKG IFTIRLPKET PGQHFEGLNM LTALLAPRKS RTAKPLVEEI GASEIPEEVV 
DDEEFDWEIE QTPCEEVSES ALNPQCHYGF GNLRSGVLQR LQDELSDVID IKDPDFTPAA 
ERRQKRLAAE LAKFDPDHYL ADFFEDEAIE QILKYNPWWT DKYSKMMAFL EKSQEQENHA 
TLVSFSEEEK YQLRKFVNKS YLLDKRACRQ VCYSLIDILL AYCYETRVTE GEKNVESAWN 
IRKLSPTLCW FETWTNVHDI MVSFGRRVLC YPLYRHFKLV MKAYRDTIKI LQLGKSAVLK 
CLLDIHKIFQ ENDPAYILND LYISDYCVWI QKVKSKKLAA LAEALKEVSL TKAQLGLELE 
ELEAAALLVQ EEETALKAAH SVSGQQTLCS SSEASDSEDS DSSVSSGNED SGSDSEQDEL 
KDSPSETVSS LQGPFLEESS AFLIVDGGVR RNTAIQESDA SQGKPLASSW PLGVSGPLIE 
ELGEQLKTTV QVSEPKGTTA VNRSNIQERD GCQTPNN