PUS10 (pseudouridine synthase 10)

Gene

• Entrez ID: 150962
• Gene name: Pseudouridine synthase 10
• Gene symbol: PUS10
• Synonyms (NCBI Gene): CCDC139, DOBI, Hup10
• 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,

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183
GO:0005634	Component	Nucleus	IDA	30530625, 31819270
GO:0005737	Component	Cytoplasm	IDA	30530625, 31819270
GO:0005739	Component	Mitochondrion	IEA
GO:0009982	Function	Pseudouridine synthase activity	IBA	21873635
GO:0031053	Process	Primary miRNA processing	IDA	31819270
GO:0031119	Process	TRNA pseudouridine synthesis	IBA	21873635
GO:0031119	Process	TRNA pseudouridine synthesis	IDA	30530625, 31819270
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

Other IDs

• MIM: 612787
• HGNC: 26505
• e!Ensembl: 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
• Sequence:

  MFPLTEENKHVAQLLLNTGTCPRCIFRFCGVDFHAPYKLPYKELLNELQKFLETEKDELI
  LEVMNPPPKKIRLQELEDSIDNLSQNGEGRISVSHVGSTASKNSNLNVCNVCLGILQEFC
  EKDFIKKVCQKVEASGFEFTSLVFSVSFPPQLSVREHAAWLLVKQEMGKQSLSLGRDDIV
  QLKEAYKWITHPLFSEELGVPIDGKSLFEVSVVFAHPETVEDCHFLAAICPDCFKPAKNK
  QSVFTRMAVMKALNKIKEEDFLKQFPCPPNSPKAVCAVLEIECAHGAVFVAGRYNKYSRN
  LPQTPWIIDGERKLESSVEELISDHLLAVFKAESFNFSSSGREDVDVRTLGNGRPFAIEL
  VNPHRVHFTSQEIKELQQKINNSSNKIQVRDLQLVTREAIGHMKEGEEEKTKTYSALIWT
  NKAIQKKDIEFLNDIKDLKIDQKTPLRVLHRRPLAVRARVIHFMETQYVDEHHFRLHLKT
  QAGTYIKEFVHGDFGRTKPNIGSLMNVTADILELDVESVDVDWPPALDD

• Sequence length: 529

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs869025224	21383967, 30595370
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	26482879
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	23128233, 28067908, 26192919
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		21150878	ClinVar
Celiac disease	Celiac Disease, Celiac disease		20190752, 23143596, 22057235, 21298027	ClinVar, GWAS
Crohn disease	Crohn Disease		21298027, 22412388, 26192919, 26974007, 21102463, 18587394, 28067908	ClinVar
Ulcerative colitis	Ulcerative colitis			GWAS
Crohn Disease	Crohn Disease			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
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