TP53RK
TP53RK (TP53 Regulating Kinase) is a Protein Coding gene. Diseases associated with TP53RK include Galloway-Mowat Syndrome 4 and Galloway-Mowat Syndrome. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity.
Full Name
TP53RK Gene(Protein Coding) TP53 Regulating Kinase
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:27903914).
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:27903914).
TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity).
Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806).
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:27903914).
TP53RK has ATPase activity in the context of the EKC/KEOPS complex and likely plays a supporting role to the catalytic subunit OSGEP (By similarity).
Atypical protein kinase that phosphorylates 'Ser-15' of p53/TP53 protein and may therefore participate in its activation (PubMed:11546806).
Biological Process
Biological Process protein phosphorylation Source:UniProtKB1 Publication
Biological Process regulation of signal transduction by p53 class mediator Source:Reactome
Biological Process tRNA processing Source:UniProtKB-KW
Biological Process tRNA threonylcarbamoyladenosine metabolic process Source:GO_Central1 Publication
Biological Process regulation of signal transduction by p53 class mediator Source:Reactome
Biological Process tRNA processing Source:UniProtKB-KW
Biological Process tRNA threonylcarbamoyladenosine metabolic process Source:GO_Central1 Publication
Cellular Location
Cytoplasm
Nucleus
Nucleus
Involvement in disease
Galloway-Mowat syndrome 4 (GAMOS4):
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-TP53RK antibodies
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Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 3H4
Application*: IH, E
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 3D7
Application*: WB, E
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2A9
Application*: IF, E
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2E10
Application*: WB, E
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 2E8
Application*: WB, E
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 4B9-1H3
Application*: E, P, WB
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJT-4279
Application*: WB
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-4278
Application*: WB, IH
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBYJT-4277
Application*: WB, IH
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJT-4276
Application*: WB, IH
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYJT-4275
Application*: WB, IH
Target: TP53RK
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBYJT-4274
Application*: E, IH, WB
Target: TP53RK
Specificity: Human
Target: TP53RK
Specificity: Human
Target: TP53RK
Specificity: Human
Target: TP53RK
Specificity: Human
Target: TP53RK
Specificity: Human
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(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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