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    Shq1 SHQ1, H/ACA ribonucleoprotein assembly factor [ Rattus norvegicus (Norway rat) ]

    Gene ID: 297483, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Shq1provided by RGD
    Official Full Name
    SHQ1, H/ACA ribonucleoprotein assembly factorprovided by RGD
    Primary source
    RGD:1310610
    See related
    EnsemblRapid:ENSRNOG00000005433 AllianceGenome:RGD:1310610
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1310610
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in box H/ACA snoRNP assembly. Predicted to act upstream of or within negative regulation of rRNA processing; positive regulation of apoptotic process; and telomerase RNA localization to Cajal body. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleoplasm. Human ortholog(s) of this gene implicated in dystonia 35, childhood-onset. Orthologous to human SHQ1 (SHQ1, H/ACA ribonucleoprotein assembly factor). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 26.1), Spleen (RPKM 25.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Shq1 in Genome Data Viewer
    Location:
    4q34
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (134741190..134861960, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (133213357..133305586, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (133131711..133133170, complement) , (133037515..133127183, complement)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORA17 Neighboring gene uncharacterized LOC120102354 Neighboring gene actin, gamma 1, pseudogene 9 Neighboring gene glucoside xylosyltransferase 2 Neighboring gene uncharacterized LOC134486825

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Pathogenic SHQ1 variants result in disruptions to neuronal development and the dopaminergic pathway. Chang CH, et al. Exp Neurol, 2024 Dec. PMID 39326821
    2. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. Grozdanov PN, et al. RNA, 2009 Jun. PMID 19383767, Free PMC Article
    3. Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1. Freund A, et al. Cell, 2014 Dec 4. PMID 25467444, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic SHQ1 variants result in disruptions to neuronal development and the dopaminergic pathway.
      Title: Pathogenic SHQ1 variants result in disruptions to neuronal development and the dopaminergic pathway.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC187748

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    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
    		  
    acts_upstream_of_or_within positive regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein-RNA complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within_positive_effect regulation of androgen receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within telomerase RNA localization to Cajal body ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Component Evidence Code Pubs
    NOT located_in Cajal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    NOT located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein SHQ1 homolog
    Names
    SHQ1 homolog

    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_001134713.1 → NP_001128185.1  protein SHQ1 homolog

      See identical proteins and their annotated locations for NP_001128185.1

      Status: VALIDATED

      Source sequence(s)
      BC168172
      UniProtKB/TrEMBL
      A6IBH9, B4F784
      Related
      ENSRNOP00000054569.3, ENSRNOT00000057758.4
      Conserved Domains (3) summary
      cd00298
      Location:9 → 78
      ACD_sHsps_p23-like; This domain family includes the alpha-crystallin domain (ACD) of alpha-crystallin-type small heat shock proteins (sHsps) and a similar domain found in p23-like proteins. sHsps are small stress induced proteins with monomeric masses between 12 -43 kDa, ...
      pfam04925
      Location:245 → 414
      SHQ1; SHQ1 protein
      cl21457
      Location:179 → 266
      TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      134741190..134861960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063285860.1 → XP_063141930.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    2. XM_063285858.1 → XP_063141928.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    3. XM_063285859.1 → XP_063141929.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    4. XM_063285857.1 → XP_063141927.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    5. XM_063285851.1 → XP_063141921.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    6. XM_063285856.1 → XP_063141926.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    7. XM_063285854.1 → XP_063141924.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    8. XM_063285853.1 → XP_063141923.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    9. XM_063285855.1 → XP_063141925.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    10. XM_063285852.1 → XP_063141922.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    11. XM_063285848.1 → XP_063141918.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    12. XM_063285850.1 → XP_063141920.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784

    13. XM_063285849.1 → XP_063141919.1  protein SHQ1 homolog isoform X1

      UniProtKB/TrEMBL
      A6IBH9, B4F784
    Nucleotide Protein Strain
    Heading Accession and Version

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