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Gene Gene information from NCBI Gene database.
Entrez ID 113000
Gene name RNA pseudouridine synthase domain containing 1
Gene symbol RPUSD1
Synonyms (NCBI Gene)
C16orf40RLUCL
Chromosome 16
Chromosome location 16p13.3
miRNA miRNA information provided by mirtarbase database.
182 Show/Hide all (182)
miRTarBase ID miRNA Experiments Reference
MIRT1319134 hsa-miR-1224-3p CLIP-seq
MIRT1319135 hsa-miR-1225-3p CLIP-seq
MIRT1319136 hsa-miR-1233 CLIP-seq
MIRT1319137 hsa-miR-124 CLIP-seq
MIRT1319138 hsa-miR-1254 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7 Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000455 Process Enzyme-directed rRNA pseudouridine synthesis IBA
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0009451 Process RNA modification IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJJ7
Protein name RNA pseudouridylate synthase domain-containing protein 1 (Ribosomal large subunit pseudouridine synthase C-like protein)
PDB 5VBB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00849 PseudoU_synth_2 17 → 182 RNA pseudouridylate synthase Family
Sequence
MEPGSVENLSIVYRSRDFLVVNKHWDVRIDSKAWRETLTLQKQLRYRFPELADPDTCYGF
RFCHQLDFSTSGALCVALNKAAAGSAYRCFKERRVTKAYLALLRGHIQESRVTISHAIGR
NSTEGRAHTMCIEGSQGCENPKPSLTDLVVLEHGLYAGDPVSKVLLKPLTGRTHQLRVHC
SA
LGHPVVGDLTYGEVSGREDRPFRMMLHAFYLRIPTDTECVEVCTPDPFLPSLDACWSP
HTLLQSLDQLVQALRATPDPDPEDRGPRPGSPSALLPGPGRPPPPPTKPPETEAQRGPCL
QWLSEWTLEPDS
Sequence length 312
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Prostate cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Basal Cell Nevus Syndrome Basal cell nevus syndrome Pubtator 29081410 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35779338 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only