Gene table of PUS1 : pseudouridylate synthase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with PUS1OMIM linkNumber of associated genesgenes
PS600462MYOPATHY, LACTIC ACIDOSIS, AND SIDERBLASTIC ANEMIAClinVar, OMIM, HUMSAVAR link to OMIM 2YARS2, PUS1

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Annotation of the gene PUS1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
hydro-lyase activityGO:00168365.81
isomerase activityGO:00168534.62
pseudouridylate synthase activityGO:00047309.74
organic cyclic compound bindingGO:00971591.05
poly(A) RNA bindingGO:00448222.69
lyase activityGO:00168294.53
pseudouridine synthase activityGO:00099827.17
catalytic activityGO:00038241.05
RNA bindingGO:00037232.36
nucleic acid bindingGO:00036761.44
carbon-oxygen lyase activityGO:00168355.46
intramolecular transferase activityGO:00168666.44
heterocyclic compound bindingGO:19013631.06
bindingGO:00054880.18