Gene Gene information from NCBI Gene database.
Entrez ID 142940
Gene name TruB pseudouridine synthase family member 1
Gene symbol TRUB1
Synonyms (NCBI Gene)
PUS4
Chromosome 10
Chromosome location 10q25.3
Summary Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
457
miRTarBase ID miRNA Experiments Reference
MIRT050885 hsa-miR-17-5p CLASH 23622248
MIRT551640 hsa-miR-132-3p PAR-CLIP 20371350
MIRT551639 hsa-miR-212-3p PAR-CLIP 20371350
MIRT055636 hsa-miR-4426 PAR-CLIP 20371350
MIRT055638 hsa-miR-4647 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 28073919
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610726 16060 ENSG00000165832
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWH5
Protein name Pseudouridylate synthase TRUB1 (EC 5.4.99.-) (TruB pseudouridine synthase homolog 1) (tRNA pseudouridine 55 synthase TRUB1) (Psi55 synthase TRUB1) (EC 5.4.99.25)
Protein function Pseudouridine synthase that catalyzes pseudouridylation of mRNAs and tRNAs (PubMed:28073919, PubMed:31477916, PubMed:32926445). Mediates pseudouridylation of mRNAs with the consensus sequence 5'-GUUCNANNC-3', harboring a stem-loop structure (Pub
PDB 8JFX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01509 TruB_N 106 255 TruB family pseudouridylate synthase (N terminal domain) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and liver. Expressed at lower levels in lung, small intestine, kidney and spleen. {ECO:0000269|PubMed:12736709}.
Sequence
MAASEAAVVSSPSLKTDTSPVLETAGTVAAMAATPSARAAAAVVAAAARTGSEARVSKAA
LATKLLSLSGVFAVHKPKGPTSAELLNRLKEKLLAEAGMPSPEWTKRKKQTLKIGHGGTL
DSAARGVLVVGIGSGTKMLTSMLSGSKRYTAIGELGKATDTLDSTGRVTEEKPYDKITQE
DIEGILQKFTGNIMQVPPLYSALKKDGQRLSTLMKRGEVVEAKPARPVTVYSISLQKFQP
PFFTLDVECGGGFYI
RSLVSDIGKELSSCANVLELTRTKQGPFTLEEHALPEDKWTIDDI
AQSLEHCSSLFPAELALKKSKPESNEQVLSCEYITLNEPKREDDVIKTC
Sequence length 349
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Glioblastoma Associate 35111402
★☆☆☆☆
Found in Text Mining only