• Gene id: 83732

Gene Summary

• Gene Symbol: RIOK1   Gene   UCSC   Ensembl
• Aliases: AD034, RIO1, RRP10, bA288G3.1
• Gene name: RIO kinase 1
• Alternate names: serine/threonine-protein kinase RIO1,
• Gene location: 6p24.3 (7389807: 7418036)     Exons: 18     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunit
• OMIM: 617753

Protein Summary

• Protein general information: Q9BRS2  
  • Name: Serine/threonine protein kinase RIO1 (EC 2.7.11.1) (EC 3.6.3. ) (RIO kinase 1)
  • Length: 568  
  • Mass: 65583
• Sequence:

  MDYRRLLMSRVVPGQFDDADSSDSENRDLKTVKEKDDILFEDLQDNVNENGEGEIEDEEEEGYDDDDDDWDWDEG
  VGKLAKGYVWNGGSNPQANRQTSDSSSAKMSTPADKVLRKFENKINLDKLNVTDSVINKVTEKSRQKEADMYRIK
  DKADRATVEQVLDPRTRMILFKMLTRGIITEINGCISTGKEANVYHASTANGESRAIKIYKTSILVFKDRDKYVS
  GEFRFRHGYCKGNPRKMVKTWAEKEMRNLIRLNTAEIPCPEPIMLRSHVLVMSFIGKDDMPAPLLKNVQLSESKA
  RELYLQVIQYMRRMYQDARLVHADLSEFNMLYHGGGVYIIDVSQSVEHDHPHALEFLRKDCANVNDFFMRHSVAV
  MTVRELFEFVTDPSITHENMDAYLSKAMEIASQRTKEERSSQDHVDEEVFKRAYIPRTLNEVKNYERDMDIIMKL
  KEEDMAMNAQQDNILYQTVTGLKKDLSGVQKVPALLENQVEERTCSDSEDIGSSECSDTDSEEQGDHARPKKHTT
  DPDIDKKERKKMVKEAQREKRKNKIPKHVKKRKEKTAKTKKGK

• Structural information:
  • Protein Domains: (180..47-)
    (/note="Protein-kinase")
  • Interpro: IPR011009  IPR000687  IPR018935  IPR017407  
  • Prosite: PS01245
  • PDB: 4OTP 6G5I
  • PDBsum: 4OTP 6G5I
  • STRING: ENSP00000369162
• Other Databases: GeneCards:  RIOK1  Malacards:  RIOK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0030490	maturation of SSU-rRNA	IBA	biological process
GO:0030688	preribosome, small subunit precursor	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030688	preribosome, small subunit precursor	IDA	cellular component
GO:0042274	ribosomal small subunit biogenesis	IMP	biological process
GO:0034708	methyltransferase complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000234	positive regulation of rRNA processing	IMP	biological process
GO:0030490	maturation of SSU-rRNA	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray