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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TPRKB
TP53RK binding protein
Chromosome 2 Β· 2p13.1
NCBI Gene: 51002Ensembl: ENSG00000144034.17HGNC: HGNC:24259UniProt: Q9Y3C4
33PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein kinase bindingtRNA threonylcarbamoyladenosine modificationcytoplasmGalloway-Mowat syndromeneurodegenerative diseasethyroiditisnephrotic syndrome
✦AI Summary

TPRKB (TP53RK binding protein) is a core component of the EKC/KEOPS complex, a highly conserved five-subunit complex essential for tRNA modification and cellular fitness 1. TPRKB functions as an allosteric effector regulating the complex's catalytic activity in synthesizing N6-threonylcarbamoyl adenosine (t6A) at position 37 of adenine-reading tRNAs 23. The complex transfers the threonylcarbamoyl moiety from threonylcarbamoyl-AMP to the N6 group of A37, a modification critical for translational fidelity 3. TPRKB interacts directly with PRPK, as revealed by crystallographic analysis 4. TPRKB mutations cause Galloway-Mowat syndrome (GAMOS), characterized by early-onset nephrotic syndrome and microcephaly 35. Disease mechanisms include impaired protein translation, endoplasmic reticulum stress, DNA-damage signaling, and apoptosis 3. TPRKB is also implicated in cancer biology: TP53-deficient cancer cells show selective dependence on TPRKB for proliferation, with TP53 indirectly mediating TPRKB degradation 6. In hepatocellular carcinoma, TPRKB is highly expressed and predicts poor outcomes; METTL5-mediated m6A methylation regulates TPRKB mRNA stability 7. These findings establish TPRKB as essential for both normal development and disease pathogenesis.

Sources cited
1
TPRKB is a component of the EKC/KEOPS complex required for t6A37 formation in tRNAs
PMID: 22912744
2
TPRKB mutations cause Galloway-Mowat syndrome; KEOPS mutations impair translation and induce apoptosis
PMID: 28805828
3
KEOPS is essential for cell fitness and animal development; mutations underlie Galloway-Mowat syndrome
PMID: 34614169
4
Galloway-Mowat syndrome has heterogeneous genetic causes including TPRKB mutations
PMID: 40533795
5
Crystal structure of PRPK-TPRKB complex reveals direct protein-protein interaction and maps disease mutations
PMID: 33547416
6
TPRKB is selectively required for proliferation in TP53-deficient cancer cells; TP53 mediates TPRKB degradation
PMID: 31110156
7
TPRKB is highly expressed in hepatocellular carcinoma and predicts poor outcomes; METTL5 regulates TPRKB via m6A methylation
PMID: 39182664
Disease Associationsβ“˜21
Galloway-Mowat syndromeOpen Targets
0.67Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
thyroiditisOpen Targets
0.26Weak
nephrotic syndromeOpen Targets
0.11Weak
vascular diseaseOpen Targets
0.07Suggestive
macrovascular complications of diabetesOpen Targets
0.06Suggestive
placenta praeviaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
smoking cessationOpen Targets
0.04Suggestive
substance-related disorderOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
colitisOpen Targets
0.02Suggestive
enteritisOpen Targets
0.02Suggestive
microcephalyOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
juvenile dermatomyositisOpen Targets
0.01Suggestive
epilepsyOpen Targets
0.01Suggestive
transitional cell carcinoma of kidneyOpen Targets
0.00Suggestive
Epileptic encephalopathyOpen Targets
0.00Suggestive
Galloway-Mowat syndrome 5UniProt
Pathogenic Variants2
NM_016058.5(TPRKB):c.445T>A (p.Tyr149Asn)Likely pathogenic
Galloway-Mowat syndrome 5
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_016058.5(TPRKB):c.446A>G (p.Tyr149Cys)Pathogenic
Galloway-Mowat syndrome 5
β˜†β˜†β˜†β˜†2017β†’ Residue 149
View on ClinVar β†—
Related Genes
GON7Protein interaction90%NUP43Protein interaction76%OSGEPProtein interaction74%OSGEPL1Protein interaction73%LAGE3Protein interaction69%YRDCProtein interaction69%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
58%
Heart
46%
Brain
40%
Liver
39%
Lung
29%
Gene Interaction Network
Click a node to explore
TPRKBGON7NUP43OSGEPOSGEPL1LAGE3YRDC
PROTEIN STRUCTURE
Preparing viewer…
PDB7SZC Β· 1.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.31Tolerant
Observed/Expected LoF0.41 [0.20–0.94]
RankingsWhere TPRKB stands among ~20K protein-coding genes
  • #11,443of 20,598
    Most Researched33
  • #4,502of 5,498
    Most Pathogenic Variants2
  • #8,745of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedTPRKB
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
Genetics and phenotypic heterogeneity of Galloway-Mowat syndrome.
PMID: 40533795
Cell Commun Signal Β· 2025
0.90
3
Crystal structure of the human PRPK-TPRKB complex.
PMID: 33547416
Commun Biol Β· 2021
0.80
4
The structural and functional workings of KEOPS.
PMID: 34614169
Nucleic Acids Res Β· 2021
0.70
5
Identification of TP53RK-Binding Protein (TPRKB) Dependency in
PMID: 31110156
Mol Cancer Res Β· 2019
0.60