PUS3 (pseudouridine synthase 3)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83480
Gene name Gene Name - the full gene name approved by the HGNC.
Pseudouridine synthase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PUS3
Synonyms (NCBI Gene) Gene synonyms aliases
2610020J05Rik, DEG1, FKSG32, MRT55, NEDMIGS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided b
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(57)
miRTarBase ID miRNA Experiments Reference
MIRT022366 hsa-miR-124-3p Microarray 18668037
MIRT042525 hsa-miR-423-3p CLASH 23622248
MIRT665105 hsa-miR-6512-5p HITS-CLIP 23824327
MIRT665104 hsa-miR-6815-5p HITS-CLIP 23824327
MIRT665103 hsa-miR-6865-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616283 25461 ENSG00000110060
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BZE2
Protein name tRNA pseudouridine(38/39) synthase (EC 5.4.99.45) (tRNA pseudouridine synthase 3) (tRNA pseudouridylate synthase 3) (tRNA-uridine isomerase 3)
Protein function Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs.
PDB 8OKD , 9ENB , 9ENC , 9ENE , 9ENF , 9F9Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01416 PseudoU_synth_1 212 → 330 tRNA pseudouridine synthase Domain
Sequence 
MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAH
GRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKG
VSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPV
EPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRT
ILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIID
ELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTH
MLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKC
QGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSI
I
Sequence length 481
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    tRNA modification in the nucleus and cytosol
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome rs774005569, rs753229591 N/A
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Intellectual Disability Associate 27055666