• Gene id: 150962

Gene Summary

• Gene Symbol: PUS10   Gene   UCSC   Ensembl
• Aliases: CCDC139, DOBI, Hup10
• Gene name: pseudouridine synthase 10
• Alternate names: tRNA pseudouridine synthase Pus10, putative tRNA pseudouridine synthase Pus10, coiled-coil domain containing 139, coiled-coil domain-containing protein 139, pseudouridylate synthase 10, psi55 synthase, tRNA pseudouridine 55 synthase, tRNA pseudouridylate synthas,
• Gene location: 2p16.1-p15 (61019692: 60940217)     Exons: 25     NC_000002.12
• Gene summary(Entrez): 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,
• OMIM: 612787

Protein Summary

• Protein general information: Q3MIT2  
  • 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)
  • Length: 529  
  • Mass: 60244
• Sequence:

  MFPLTEENKHVAQLLLNTGTCPRCIFRFCGVDFHAPYKLPYKELLNELQKFLETEKDELILEVMNPPPKKIRLQE
  LEDSIDNLSQNGEGRISVSHVGSTASKNSNLNVCNVCLGILQEFCEKDFIKKVCQKVEASGFEFTSLVFSVSFPP
  QLSVREHAAWLLVKQEMGKQSLSLGRDDIVQLKEAYKWITHPLFSEELGVPIDGKSLFEVSVVFAHPETVEDCHF
  LAAICPDCFKPAKNKQSVFTRMAVMKALNKIKEEDFLKQFPCPPNSPKAVCAVLEIECAHGAVFVAGRYNKYSRN
  LPQTPWIIDGERKLESSVEELISDHLLAVFKAESFNFSSSGREDVDVRTLGNGRPFAIELVNPHRVHFTSQEIKE
  LQQKINNSSNKIQVRDLQLVTREAIGHMKEGEEEKTKTYSALIWTNKAIQKKDIEFLNDIKDLKIDQKTPLRVLH
  RRPLAVRARVIHFMETQYVDEHHFRLHLKTQAGTYIKEFVHGDFGRTKPNIGSLMNVTADILELDVESVDVDWPP
  ALDD

• Structural information:
  • Interpro: IPR020103  IPR039894  
  • PDB: 2V9K
  • PDBsum: 2V9K
  • STRING: ENSP00000326003
• Other Databases: GeneCards:  PUS10  Malacards:  PUS10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031119	tRNA pseudouridine synthesis	IBA	biological process
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0031119	tRNA pseudouridine synthesis	IDA	biological process
GO:0106029	tRNA pseudouridine synthase activity	IDA	molecular function
GO:0031119	tRNA pseudouridine synthesis	IDA	biological process
GO:0106029	tRNA pseudouridine synthase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070878	primary miRNA binding	IDA	molecular function
GO:0031053	primary miRNA processing	IDA	biological process
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0009451	RNA modification	IEA	biological process
GO:0009982	pseudouridine synthase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0106029	tRNA pseudouridine synthase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray