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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TP53RK
TP53 regulating kinase
Chromosome 20 Β· 20q13.12
NCBI Gene: 112858Ensembl: ENSG00000172315.6HGNC: HGNC:16197UniProt: Q96S44
58PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein phosphorylationEKC/KEOPS complexcytoplasmprotein serine/threonine kinase activityGalloway-Mowat syndromeneurodegenerative diseaseGlobal developmental delaySeizure
✦AI Summary

TP53RK (TP53 regulating kinase) is a dual-function protein kinase that plays critical roles in both tRNA modification and DNA replication regulation. As a component of the EKC/KEOPS complex, TP53RK contributes to the formation of threonylcarbamoyl groups on adenosine at position 37 in tRNAs that read codons beginning with adenine, exhibiting ATPase activity and supporting the catalytic subunit OSGEP 1. In DNA replication, TP53RK stabilizes cell division cycle 7 (CDC7) kinase, ensuring robust minichromosome maintenance complex protein phosphorylation and proper replication fork progression 2. The protein functions as an atypical protein kinase that can phosphorylate p53 at Ser-15, though its role in cancer appears more complex, involving phosphorylation of other targets including survivin and Birc5 34. Disease-wise, mutations in TP53RK cause Galloway-Mowat syndrome, characterized by early-onset nephrotic syndrome and microcephaly 15. The protein is overexpressed in various cancers including multiple myeloma, colorectal cancer, and contributes to chr20 kidney disease progression 624. Clinically, TP53RK represents a potential therapeutic target, with FDA-approved fusidic acid identified as an inhibitor showing promise in combination therapies 34.

Sources cited
1
TP53RK mutations cause Galloway-Mowat syndrome and the protein functions in the KEOPS complex for tRNA modification
PMID: 28805828
2
TP53RK stabilizes CDC7 kinase and regulates DNA replication, with overexpression in colorectal cancer
PMID: 41102525
3
TP53RK phosphorylates survivin and promotes colon cancer metastasis; fusidic acid acts as an inhibitor
PMID: 29483219
4
TP53RK phosphorylates Birc5 and drives chronic kidney disease progression; treatable with fusidic acid
PMID: 37382161
5
TP53RK confers poor prognosis in multiple myeloma and is targeted by immunomodulatory drugs
PMID: 28082445
6
Novel TP53RK mutations identified in Galloway-Mowat syndrome with functional validation showing pathogenic effects
PMID: 36116039
Disease Associationsβ“˜21
Galloway-Mowat syndromeOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.43Moderate
Global developmental delayOpen Targets
0.32Weak
SeizureOpen Targets
0.32Weak
external ear diseaseOpen Targets
0.15Weak
microcephalyOpen Targets
0.11Weak
placenta praeviaOpen Targets
0.11Weak
liver diseaseOpen Targets
0.11Weak
chronic kidney diseaseOpen Targets
0.08Suggestive
renal fibrosisOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
intelligenceOpen Targets
0.05Suggestive
brain compressionOpen Targets
0.04Suggestive
edemaOpen Targets
0.04Suggestive
osteosarcomaOpen Targets
0.03Suggestive
acute kidney injuryOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
nephrotic syndromeOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
Galloway-Mowat syndrome 4UniProt
Pathogenic Variants9
NM_033550.4(TP53RK):c.15_16dup (p.Ala6fs)Pathogenic
Microcephaly|Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 6
NM_033550.4(TP53RK):c.675C>G (p.Tyr225Ter)Likely pathogenic
Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 225
NM_033550.4(TP53RK):c.520dup (p.Leu174fs)Likely pathogenic
Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 174
NM_033550.4(TP53RK):c.37G>T (p.Glu13Ter)Likely pathogenic
Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 13
NM_033550.4(TP53RK):c.602_603del (p.Tyr201fs)Likely pathogenic
Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2024β†’ Residue 201
NM_033550.4(TP53RK):c.193A>C (p.Lys65Gln)Likely pathogenic
Galloway-Mowat syndrome 4
β˜…β˜†β˜†β˜†2021β†’ Residue 65
NM_033550.4(TP53RK):c.179del (p.Lys60fs)Pathogenic
Galloway-Mowat syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 60
NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg)Pathogenic
Galloway-Mowat syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 81
NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp)Pathogenic
Galloway-Mowat syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 42
View on ClinVar β†—
Related Genes
YRDCProtein interaction100%OSGEPL1Protein interaction96%PDXKProtein interaction80%OSGEPProtein interaction77%NUP43Protein interaction76%WDR73Protein interaction71%
Tissue Expression6 tissues
Brain
100%
Liver
87%
Lung
76%
Bone Marrow
75%
Ovary
74%
Heart
71%
Gene Interaction Network
Click a node to explore
TP53RKYRDCOSGEPL1PDXKOSGEPNUP43WDR73
PROTEIN STRUCTURE
Preparing viewer…
PDB7SZC Β· 1.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [0.83–1.78]
RankingsWhere TP53RK stands among ~20K protein-coding genes
  • #7,924of 20,598
    Most Researched58
  • #2,961of 5,498
    Most Pathogenic Variants9
  • #16,457of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedTP53RK
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
PMID: 28805828
Nat Genet Β· 2017
1.00
2
Targeting PRPK Function Blocks Colon Cancer Metastasis.
PMID: 29483219
Mol Cancer Ther Β· 2018
0.90
3
p53-related protein kinase confers poor prognosis and represents a novel therapeutic target in multiple myeloma.
PMID: 28082445
Blood Β· 2017
0.80
4
Identifying TP53RK as a key regulator of colorectal cancer survival and a potential therapeutic target.
PMID: 41102525
Sci Rep Β· 2025
0.70
5
TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
PMID: 37382161
Adv Sci (Weinh) Β· 2023
0.60