Gene Gene information from NCBI Gene database.
Entrez ID 112858
Gene name TP53 regulating kinase
Gene symbol TP53RK
Synonyms (NCBI Gene)
BUD32C20orf64GAMOS4Nori-2Nori-2pPRPKTPRKBdJ101A2
Chromosome 20
Chromosome location 20q13.12
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs553547069 G>A Likely-pathogenic Coding sequence variant, missense variant
rs773814837 C>A,T Pathogenic Missense variant, coding sequence variant
rs776588426 C>A,T Pathogenic Missense variant, coding sequence variant
rs886913294 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1431526147 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
395
miRTarBase ID miRNA Experiments Reference
MIRT048227 hsa-miR-196a-5p CLASH 23622248
MIRT037962 hsa-miR-505-5p CLASH 23622248
MIRT550710 hsa-miR-4311 PAR-CLIP 20371350
MIRT296120 hsa-miR-1277-5p PAR-CLIP 20371350
MIRT550709 hsa-miR-345-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000408 Component EKC/KEOPS complex IBA
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 28805828
GO:0000408 Component EKC/KEOPS complex IEA
GO:0002039 Function P53 binding IDA 11546806
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608679 16197 ENSG00000172315
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S44
Protein name EKC/KEOPS complex subunit TP53RK (EC 3.6.-.-) (Atypical serine/threonine protein kinase TP53RK) (Nori-2) (TP53-regulating kinase) (EC 2.7.11.1) (p53-related protein kinase)
Protein function 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
PDB 6WQX , 7SZA , 7SZB , 7SZC , 7SZD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06293 Kdo 49 225 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Weakly expressed in heart kidney and spleen. {ECO:0000269|PubMed:11546806}.
Sequence
Sequence length 253
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of TP53 Activity through Phosphorylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Galloway-Mowat syndrome 4 Likely pathogenic; Pathogenic rs1568972559, rs1431526147, rs1432218739, rs773814837, rs774069989 RCV001580607
RCV000513210
RCV000513568
RCV000513023
RCV002489515
Microcephaly Pathogenic rs774069989 RCV001252762
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Conflicting classifications of pathogenicity; Uncertain significance rs553547069, rs886913294 RCV001003630
RCV001003631
Seizure Conflicting classifications of pathogenicity; Uncertain significance rs553547069, rs886913294 RCV001003630
RCV001003631
TP53RK-related disorder Conflicting classifications of pathogenicity; Likely benign; Benign rs1258476504, rs542718885, rs754723667, rs2063197167, rs758719532, rs141087837, rs568244503, rs113419087, rs56008408 RCV003397232
RCV003909115
RCV003966603
RCV003939476
RCV003949608
RCV003935988
RCV003955859
RCV003920746
RCV003975720
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 40352177
Colorectal Neoplasms Associate 26263387, 33547416
Galloway Mowat syndrome Associate 30053862, 33547416, 36755238
Microcephaly Associate 36755238
Multiple Myeloma Associate 28082445
Neoplasms Associate 33547416
Osteosarcoma Associate 32944406