TP53RK

Chr 20q13.12

TP53 regulating kinase

Aliases:: dJ101A2.2, prpk, Nori-2p, BUD32, TPRKB
MANE:: ENST00000372114.4

OMIM: 608679 ↗NCBI: 112858 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TP53RK · Q96S44

v62025-08-01

Predicted Aligned Error matrix for TP53RK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.1/ 100

Very high

253 residues

Confidence breakdown

Very high(≥ 90)78%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Galloway-Mowat syndrome
0.76
neurodegenerative disease
0.43
Global developmental delay
0.32
Seizure
0.32
microcephaly
0.11
external ear disorder
0.09
liver disorder
0.08
placenta praevia
0.08
chronic kidney disease
0.08
malignant colon neoplasm
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

EKC/KEOPS complex subunit TP53RK

Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) 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)