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    SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor [ Homo sapiens (human) ]

    Gene ID: 55164, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SHQ1provided by HGNC
    Official Full Name
    SHQ1, H/ACA ribonucleoprotein assembly factorprovided by HGNC
    Primary source
    HGNC:HGNC:25543
    See related
    Ensembl:ENSG00000144736 MIM:613663; AllianceGenome:HGNC:25543
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DYT35; NEDDS; Shq1p; GRIM-1
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 2.9), thyroid (RPKM 2.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHQ1 in Genome Data Viewer
    Location:
    3p13
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (72725272..72848445, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (72766887..72890317, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (72798428..72897596, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377161 Neighboring gene uncharacterized LOC105377162 Neighboring gene RNA, 5S ribosomal pseudogene 136 Neighboring gene uncharacterized LOC124909396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:72788360-72788868 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:72815716-72816541 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:72816884-72817450 Neighboring gene NANOG hESC enhancer GRCh37_chr3:72818985-72819556 Neighboring gene U2SURP pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:72859919-72860421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20093 Neighboring gene lysosomal protein transmembrane 4 beta pseudogene 2 Neighboring gene PSMD12 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. Chi CS, et al. Hum Genet, 2023 Aug. PMID 36847845
    2. SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival. Su H, et al. Nat Commun, 2018 Oct 15. PMID 30323192, Free PMC Article
    3. SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response. Liu H, et al. Cell Death Dis, 2020 Jun 10. PMID 32522979, Free PMC Article
    4. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia. Sleiman S, et al. Hum Mol Genet, 2022 Feb 21. PMID 34542157
    5. Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Bizarro J, et al. Mol Genet Genomic Med, 2017 Nov. PMID 29178645, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
      Title: Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.
    2. Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
      Title: Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
    3. SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.
      Title: SHQ1 is an ER stress response gene that facilitates chemotherapeutics-induced apoptosis via sensitizing ER-stress response.
    4. a mechanism of NOTCH1-SHQ1-MYC axis in T-cell leukemogenesis, is reported.
      Title: SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival.
    5. Results from a study on gene expression variability markers in early-stage human embryos shows that SHQ1 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    6. The expression of GRIM-1 and GRP78 was negatively correlated in human non-small cell lung cancer (NSCLC) tissues, and the down-regulation of GRP78 by GRIM-1 provides a possible mechanism for their interaction.
      Title: Reversed expression of GRIM-1 and GRP78 in human non-small cell lung cancer.
    7. these results provide insight into the Shq1/dyskerin (Cbf5) interaction that plays a critical role in H/ACA RNP biogenesis and assembly in eukaryotes
      Title: Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1.
    8. study suggests that GRIM-1 (SHQ1) might act as a co-tumor suppressor in the prostate
      Title: GRIM-1, a novel growth suppressor, inhibits rRNA maturation by suppressing small nucleolar RNAs.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Dystonia 35, childhood-onset
    MedGen: C5677003 OMIM: 619921 GeneReviews: Not available
    		not available
    Neurodevelopmental disorder with dystonia and seizures
    MedGen: C5677004 OMIM: 619922 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10539, DKFZp686H07226

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in box H/ACA snoRNP assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein-RNA complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within telomerase RNA localization to Cajal body HMP PubMed 
    Component Evidence Code Pubs
    NOT located_in Cajal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein SHQ1 homolog
    Names
    SHQ1 homolog
    gene associated with retinoid and interferon-induced mortality 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018130.3 → NP_060600.2  protein SHQ1 homolog

      See identical proteins and their annotated locations for NP_060600.2

      Status: VALIDATED

      Source sequence(s)
      AK001401, BC032671
      Consensus CDS
      CCDS33788.1
      UniProtKB/Swiss-Prot
      B4DL05, Q6MZJ4, Q6PI26, Q7Z748, Q9H7E5, Q9NVS8
      Related
      ENSP00000315182.8, ENST00000325599.13
      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 412
      SHQ1; SHQ1 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      72725272..72848445 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533898.3 → XP_011532200.1  protein SHQ1 homolog isoform X3

      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 394
      SHQ1; SHQ1 protein

    2. XM_011533896.3 → XP_011532198.1  protein SHQ1 homolog isoform X2

      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 395
      SHQ1; SHQ1 protein

    3. XM_011533897.3 → XP_011532199.1  protein SHQ1 homolog isoform X4

      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 394
      SHQ1; SHQ1 protein

    4. XM_011533895.3 → XP_011532197.1  protein SHQ1 homolog isoform X1

      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 394
      SHQ1; SHQ1 protein

    5. XM_011533899.2 → XP_011532201.1  protein SHQ1 homolog isoform X5

      Conserved Domains (2) summary
      cd06463
      Location:9 → 84
      p23_like; Proteins containing this p23_like domain include p23 and its Saccharomyces cerevisiae (Sc) homolog Sba1. Both are co-chaperones for the heat shock protein (Hsp) 90. p23 binds Hsp90 and participates in the folding of a number of Hsp90 clients, including ...
      pfam04925
      Location:243 → 313
      SHQ1; SHQ1 protein

    RNA

    1. XR_001740192.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      72766887..72890317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347065.1 → XP_054203040.1  protein SHQ1 homolog isoform X3

    2. XM_054347064.1 → XP_054203039.1  protein SHQ1 homolog isoform X2

    3. XM_054347066.1 → XP_054203041.1  protein SHQ1 homolog isoform X4

    4. XM_054347063.1 → XP_054203038.1  protein SHQ1 homolog isoform X1

    5. XM_054347067.1 → XP_054203042.1  protein SHQ1 homolog isoform X5

    RNA

    1. XR_008486739.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PI26.2 GenPept UniProtKB/Swiss-Prot:Q6PI26

    Gene LinkOut

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