Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
150962
Gene name Gene Name - the full gene name approved by the HGNC.
Pseudouridine synthase 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PUS10
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC139, DOBI, Hup10
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.1-p15
Summary Summary of gene provided in NCBI Entrez Gene.
Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10,
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018305 hsa-miR-335-5p Microarray 18185580
MIRT1277921 hsa-miR-1200 CLIP-seq
MIRT1277922 hsa-miR-1238 CLIP-seq
MIRT1277923 hsa-miR-1261 CLIP-seq
MIRT1277924 hsa-miR-1273f CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 30530625, 31819270
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612787 26505 ENSG00000162927
Protein
UniProt ID Q3MIT2
Protein name tRNA pseudouridine synthase Pus10 (Hup10) (EC 5.4.99.25) (Coiled-coil domain-containing protein 139) (tRNA pseudouridine 55 synthase) (Psi55 synthase) (tRNA pseudouridylate synthase) (tRNA-uridine isomerase)
Protein function Protein with different functions depending on its subcellular location: involved in miRNA processing in the nucleus and acts as a tRNA pseudouridylate synthase in the cytoplasm (PubMed:31819270, PubMed:33023933). In the cytoplasm, acts as a pseu
PDB 2V9K
Family and domains
Sequence
MFPLTEENKHVAQLLLNTGTCPRCIFRFCGVDFHAPYKLPYKELLNELQKFLETEKDELI
LEVMNPPPKKIRLQELEDSIDNLSQNGEGRISVSHVGSTASKNSNLNVCNVCLGILQEFC
EKDFIKKVCQKVEASGFEFTSLVFSVSFPPQLSVREHAAWLLVKQEMGKQSLSLGRDDIV
QLKEAYKWITHPLFSEELGVPIDGKSLFEVSVVFAHPETVEDCHFLAAICPDCFKPAKNK
QSVFTRMAVMKALNKIKEEDFLKQFPCPPNSPKAVCAVLEIECAHGAVFVAGRYNKYSRN
LPQTPWIIDGERKLESSVEELISDHLLAVFKAESFNFSSSGREDVDVRTLGNGRPFAIEL
VNPHRVHFTSQEIKELQQKINNSSNKIQVRDLQLVTREAIGHMKEGEEEKTKTYSALIWT
NKAIQKKDIEFLNDIKDLKIDQKTPLRVLHRRPLAVRARVIHFMETQYVDEHHFRLHLKT
QAGTYIKEFVHGDFGRTKPNIGSLMNVTADILELDVESVDVDWPPALDD
Sequence length 529
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Celiac Disease Associate 30968606
Genetic Diseases Inborn Associate 30122582
Intellectual Disability Associate 30122582
Neoplasms Associate 28981101
Neural Tube Defects Associate 30968606