Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112858
Gene name Gene Name - the full gene name approved by the HGNC.
TP53 regulating kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TP53RK
Synonyms (NCBI Gene) Gene synonyms aliases
BUD32, C20orf64, GAMOS4, Nori-2, Nori-2p, PRPK, TPRKB, dJ101A2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GAMOS4
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000408 Component EKC/KEOPS complex IBA 21873635
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 28805828
GO:0002039 Function P53 binding IDA 11546806
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 11546806
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608679 16197 ENSG00000172315
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Galloway-mowat syndrome Galloway Mowat syndrome, GALLOWAY-MOWAT SYNDROME 4, Galloway-Mowat syndrome rs727502863, rs727502864, rs730882216, rs797044992, rs767086146, rs754099015, rs797044993, rs797044994, rs797044995, rs863223396, rs869320712, rs776760122, rs1555976610, rs1557211306, rs1557211209
View all (22 more)
28805828
Glomerulonephritis Glomerulonephritis rs778043831
Kidney disease Kidney Diseases, Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Unknown
Disease term Disease name Evidence References Source
Galloway-Mowat Syndrome Galloway-Mowat syndrome GenCC
Associations from Text Mining
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