TPRKB

TPRKB (TP53RK Binding Protein) is a Protein Coding gene. Diseases associated with TPRKB include Galloway-Mowat Syndrome 5 and Galloway-Mowat Syndrome. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

TPRKB Gene(Protein Coding) TP53RK Binding Protein

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t6A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828).
The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:28805828).
TPRKB acts as an allosteric effector that regulates the t6A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828).

Biological Process telomere maintenance via recombination Source:GO_Central1 Publication
Biological Process tRNA threonylcarbamoyladenosine modification Source:UniProtKB1 Publication

Cytoplasm, cytosol
Nucleus

Galloway-Mowat syndrome 5 (GAMOS5):
A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood.