pseudouridine synthase 7

Summary
Gene Symbol
  • PUS7
Organism
Homo sapiens (human)
NCBI Gene
54517
PubChem
54517
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Dwarfism
  • Intellectual disability
  • Isomerase
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • mRNA splicing
  • tRNA processing
Proteins
Displaying all 3 entries
UniProt Protein Name
Q96PZ0
B3KRB2
B3KY42
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
pseudouridine synthase
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • P: Inorganic ion transport and metabolism
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0081265 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
DOID:1059 intellectual disability
DOID:10907 microcephaly

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024