• Gene id: 51002

Gene Summary

• Gene Symbol: TPRKB   Gene   UCSC   Ensembl
• Aliases: CGI-121, CGI121, GAMOS5
• Gene name: TP53RK binding protein
• Alternate names: EKC/KEOPS complex subunit TPRKB, PRPK (p53-related protein kinase)-binding protein,
• Gene location: 2p13.1 (46263342: 46255662)     Exons: 1     NC_000022.11
• OMIM: 608680

Protein Summary

• Protein general information: Q9Y3C4  
  • Name: EKC/KEOPS complex subunit TPRKB (PRPK binding protein) (TP53RK binding protein)
  • Length: 175  
  • Mass: 19661
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MQLTHQLDLFPECRVTLLLFKDVKNAGDLRRKAMEGTIDGSLINPTVIVDPFQILVAANKAVHLYKLGKMKTRTL
  STEIIFNLSPNNNISEALKKFGISANDTSILIVYIEEGEKQINQEYLISQVEGHQVSLKNLPEIMNITEVKKIYK
  LSSQEESIGTLLDAIICRMSTKDVL

• Structural information:
  • Interpro: IPR013926  IPR036504  
  • PDB: 3ENP
  • PDBsum: 3ENP
  • STRING: ENSP00000272424
• Other Databases: GeneCards:  TPRKB  Malacards:  TPRKB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function

Diseases

Associated diseases	References
Galloway-Mowat syndrome	KEGG:H01722
Galloway-Mowat syndrome	KEGG:H01722
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881