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FLASH GENE
Symbol PUS7 contributors: mct - updated : 08-01-2019
HGNC name pseudouridine synthase 7
HGNC id 26033
Corresponding disease
MIDSSA microcephaly, intellectual disability, short stature, and aggressivity
Location 7q22.3      Physical location : 105.096.961 - 105.162.685
Synonym symbol(s) FLJ20485, KIAA1897, MGC17720
EC.number 4.2.1.70
DNA
TYPE functioning gene
STRUCTURE 65.76 kb
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3505 - 661 - 2017 28073919
17 - 3529 - 661 - 2017 28073919
16 - 3316 - 667 - 2017 28073919
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum highly Homo sapiens
 nervespinal nerve    Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • targets dozens to hundreds of different mRNAs implicated in a range of functions
  • TRUB1 and PUS7 are the two key PUSs acting on mammalian mRNA and to computationally model the sequence and structural elements governing the specificity of TRUB1, achieving near-perfect prediction of its substrates
  • pseudouridine "writer" PUS7 modifies and activates a novel network of tRNA-derived small fragments (tRFs) targeting the translation initiation complex
  • RNA pseudouridylation by PUS7 is essential for proper neuronal development and function
  • also implicated in mRNA pseudouridylation (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MIDSSA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • pus7 knockout in Drosophila melanogaster results in a number of behavioral defects, including increased activity, disorientation, and aggressiveness