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FLASH GENE
Symbol SHQ1 contributors: mct/npt/pgu - updated : 20-03-2013
HGNC name SHQ1 homolog (S. cerevisiae)
HGNC id 25543
Location 3p13      Physical location : 72.798.429 - 72.897.598
Synonym name
  • Gene associated with Retinoid-Interferon-induced Mortality-1
  • Synonym symbol(s) DKFZp686H07226, FLJ10539, GRIM-1, H/ACA
    DNA
    TYPE functioning gene
    STRUCTURE 99.17 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2861 - 577 - 2002 12228251
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal heat shock protein 20-like CS domain is dispensable for DKC1 binding
  • two independent domains that contain casein kinase 1 phosphorylation sites
  • C-terminal domain interacts with the RNA-binding domain of DKC1 and, through structural mimicry, uses the RNA-protein-binding sites to achieve a specific protein-protein interface
  • HOMOLOGY
    Homologene
    FAMILY
  • SHQ1 family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text localizes to the nucleoplasm and is excluded from nucleoli and Cajal bodies, the sites of mature H/ACA RNPs
    basic FUNCTION
  • having specific biochemical activity and a direct link to the H/ACA snoRNP
  • sequential action of SHQ1 and TNIP1 is required for functional assembly of H/ACA RNPs
  • binds to newly synthesized DKC1, stabilizing it and preventing it from misfolding and degradation
  • might act as a co-tumor suppressor in the prostate tumors
  • essential assembly factor for H/ACA ribonucleoproteins (RNPs) required for ribosome biogenesis, pre-mRNA splicing, and telomere maintenance
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds the major H/ACA core protein and DKC1 (aka dyskerin) but precedes the assembly role of TNIP1 at nascent H/ACA RNAs because the interaction of SHQ1 with DKC1 precludes that of TNIP1 and of the other H/ACA core proteins that are present at the sites of H/ACA RNA transcription
  • pontin and reptin (RUVBL1 and RUVBL2) (as components of the R2TP complex) are required to pry DKC1 from SHQ1
  • operates as a DKC1 chaperone during RNP assembly by acting as an RNA placeholder, thereby preventing DKC1 from nonspecific RNA binding before association with SHQ1 RNA and the other core RNP proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in prostate tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS