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.
Full Name
TPRKB Gene(Protein Coding) TP53RK Binding Protein
Function
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).
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
Biological Process telomere maintenance via recombination Source:GO_Central1 Publication
Biological Process tRNA threonylcarbamoyladenosine modification Source:UniProtKB1 Publication
Biological Process tRNA threonylcarbamoyladenosine modification Source:UniProtKB1 Publication
Cellular Location
Cytoplasm, cytosol
Nucleus
Nucleus
Involvement in disease
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.
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.
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Anti-TPRKB antibodies
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Target: TPRKB
Host: Mouse
Specificity: Human
Clone: 9j31
Application*: WB
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-4400
Application*: WB, F, IH, IC, IF, P
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYJT-4399
Application*: E, WB
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJT-4398
Application*: F, P, WB
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYJT-4396
Application*: DB, IF, WB
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-4395
Application*: WB, IH
Target: TPRKB
Specificity: Human
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYY-C1947
Application*: E, WB
Target: TPRKB
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYC-3207
Application*: DB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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