Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	150962
Gene name	Pseudouridine synthase 10
Gene symbol	PUS10
Synonyms (NCBI Gene)	CCDC139DOBIHup10
Chromosome	2
Chromosome location	2p16.1-p15
Summary	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,

Show/Hide all (68)

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
MIRT1277925	hsa-miR-143	CLIP-seq
MIRT1277926	hsa-miR-145	CLIP-seq
MIRT1277927	hsa-miR-155	CLIP-seq
MIRT1277928	hsa-miR-21	CLIP-seq
MIRT1277929	hsa-miR-219-5p	CLIP-seq
MIRT1277930	hsa-miR-2467-5p	CLIP-seq
MIRT1277931	hsa-miR-3065-5p	CLIP-seq
MIRT1277932	hsa-miR-3180-5p	CLIP-seq
MIRT1277933	hsa-miR-3188	CLIP-seq
MIRT1277934	hsa-miR-320a	CLIP-seq
MIRT1277935	hsa-miR-320b	CLIP-seq
MIRT1277936	hsa-miR-320c	CLIP-seq
MIRT1277937	hsa-miR-320d	CLIP-seq
MIRT1277938	hsa-miR-374a	CLIP-seq
MIRT1277939	hsa-miR-374b	CLIP-seq
MIRT1277940	hsa-miR-3975	CLIP-seq
MIRT1277941	hsa-miR-409-3p	CLIP-seq
MIRT1277942	hsa-miR-4277	CLIP-seq
MIRT1277943	hsa-miR-4307	CLIP-seq
MIRT1277944	hsa-miR-4324	CLIP-seq
MIRT1277945	hsa-miR-4429	CLIP-seq
MIRT1277946	hsa-miR-4448	CLIP-seq
MIRT1277947	hsa-miR-4464	CLIP-seq
MIRT1277948	hsa-miR-4643	CLIP-seq
MIRT1277949	hsa-miR-466	CLIP-seq
MIRT1277950	hsa-miR-4698	CLIP-seq
MIRT1277951	hsa-miR-4708-5p	CLIP-seq
MIRT1277952	hsa-miR-4727-5p	CLIP-seq
MIRT1277953	hsa-miR-4738-3p	CLIP-seq
MIRT1277954	hsa-miR-4748	CLIP-seq
MIRT1277955	hsa-miR-4760-5p	CLIP-seq
MIRT1277956	hsa-miR-4762-3p	CLIP-seq
MIRT1277957	hsa-miR-4766-5p	CLIP-seq
MIRT1277958	hsa-miR-4770	CLIP-seq
MIRT1277959	hsa-miR-4782-3p	CLIP-seq
MIRT1277960	hsa-miR-4789-3p	CLIP-seq
MIRT1277961	hsa-miR-4789-5p	CLIP-seq
MIRT1277962	hsa-miR-485-5p	CLIP-seq
MIRT1277963	hsa-miR-544b	CLIP-seq
MIRT1277964	hsa-miR-548l	CLIP-seq
MIRT1277965	hsa-miR-580	CLIP-seq
MIRT1277966	hsa-miR-590-3p	CLIP-seq
MIRT1277967	hsa-miR-590-5p	CLIP-seq
MIRT1277968	hsa-miR-944	CLIP-seq
MIRT2081807	hsa-miR-3915	CLIP-seq
MIRT2081808	hsa-miR-3928	CLIP-seq
MIRT1277953	hsa-miR-4738-3p	CLIP-seq
MIRT1277957	hsa-miR-4766-5p	CLIP-seq
MIRT2307570	hsa-miR-2964a-5p	CLIP-seq
MIRT2307571	hsa-miR-30a	CLIP-seq
MIRT2307572	hsa-miR-30b	CLIP-seq
MIRT2307573	hsa-miR-30c	CLIP-seq
MIRT2307574	hsa-miR-30d	CLIP-seq
MIRT2307575	hsa-miR-30e	CLIP-seq
MIRT2307576	hsa-miR-3189-3p	CLIP-seq
MIRT2307577	hsa-miR-3617	CLIP-seq
MIRT2307578	hsa-miR-362-5p	CLIP-seq
MIRT2307579	hsa-miR-500b	CLIP-seq
MIRT2307580	hsa-miR-541	CLIP-seq
MIRT2307581	hsa-miR-555	CLIP-seq
MIRT2307582	hsa-miR-584	CLIP-seq
MIRT2307583	hsa-miR-641	CLIP-seq
MIRT2307584	hsa-miR-654-5p	CLIP-seq

Show/Hide all (24)

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
GO:0005737	Component	Cytoplasm	IDA	30530625, 31819270
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IMP	33023933
GO:0008033	Process	TRNA processing	IEA
GO:0009451	Process	RNA modification	IEA
GO:0009982	Function	Pseudouridine synthase activity	IBA
GO:0009982	Function	Pseudouridine synthase activity	IDA	33023933
GO:0009982	Function	Pseudouridine synthase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0031053	Process	Primary miRNA processing	IDA	31819270
GO:0031119	Process	TRNA pseudouridine synthesis	IBA
GO:0031119	Process	TRNA pseudouridine synthesis	IDA	30530625, 31819270
GO:0031119	Process	TRNA pseudouridine synthesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070878	Function	Primary miRNA binding	IDA	31819270
GO:0106029	Function	TRNA pseudouridine synthase activity	IDA	30530625, 31819270
GO:0160148	Function	TRNA pseudouridine(55) synthase activity	IEA
GO:0160148	Function	TRNA pseudouridine(55) synthase activity	IMP	33023933

MIM	HGNC	e!Ensembl
612787	26505	ENSG00000162927

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

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)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 11A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 11B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER 1A	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21150878		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASDB_DG	20190752, 22057235, 23143596		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	20190752, 21298027, 22057235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	21298027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	30968606	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394, 21102463, 21298027, 22412388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 21298027, 22412388, 26192919, 26974007, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21298027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	GWASCAT_DG	26482879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919, 28067908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30122582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural tube defect	Pubtator	30968606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	20228799, 21297633, 26192919, 26974007, 28067908		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	20228799, 21297633		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PUS10 (pseudouridine synthase 10)