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TP53RK (TP53 regulating kinase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112858
Gene nameGene Name - the full gene name approved by the HGNC.
TP53 regulating kinase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TP53RK
SynonymsGene synonyms aliases
BUD32, C20orf64, GAMOS4, Nori-2, Nori-2p, PRPK, TPRKB, dJ101A2
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 253
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Regulation of TP53 Activity through Phosphorylation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
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, rs1557211410, rs1431526147, rs1432218739, rs773814837, rs1233885358, rs753237335, rs140076803, rs1555331969, rs144732839, rs1443735811, rs374322839, rs773173317, rs140583554, rs1292041526, rs1569314907, rs779449710, rs1433513056, rs745342141, rs866551482, rs1282630153, rs1596050297, rs774069989 28805828
Glomerulonephritis Glomerulonephritis rs778043831
Kidney disease Kidney Diseases, Chronic kidney disease stage 5 rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Unknown
Disease name Disease term dbSNP ID References
Aqueductal stenosis Aqueductal Stenosis
Cerebellar hypoplasia Cerebellar Hypoplasia
Cerebral atrophy Cerebral atrophy
Dwarfism Dwarfism

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