TP53RK
entrez
112858
canonical
uniprot
Q96S44
canonical
ensembl
ENSG00000172315
resolver
ensp
ENSP00000361186
resolver
enst
ENST00000372114
resolver
genesymbol
TP53RK
resolver
genesymbol_syn
C20orf64
resolver
genesymbol_syn
PRPK
resolver
hgnc
HGNC:16197
resolver
uniprot
B3KU44
resolver
uniprot
Q3T977
resolver
uniprot
Q5JZ01
resolver
uniprot
Q6NZ60
resolver
uniprot
Q96FM7
resolver
uniprot
Q9NQE6
resolver
uniprot_entry
PRPK_HUMAN
resolver
uniprot_sec
B3KU44
resolver
uniprot_sec
Q3T977
resolver
uniprot_sec
Q5JZ01
resolver
uniprot_sec
Q6NZ60
resolver
uniprot_sec
Q96FM7
resolver
uniprot_sec
Q9NQE6
resolver
amino_acid_sequence
MAAARATTPADGEEPAPEAEALAAARERSSRFLSGLELVKQGAEARVFRGRFQGRAAVIKHRFPKGYRHPALEARLGRRRTVQEARALLRCRRAGISAPVVFFVDYASNCLYMEEIEGSVTVRDYIQSTMETEKTPQGLSNLAKTIGQVLARMHDEDLIHGDLTTSNMLLKPPLEQLNIVLIDFGLSFISALPEDKGVDLYVLEKAFLSTHPNTETVFEAFLKSYSTSSKKARPVLKKLDEVRLRGRKRSMVG
uniprot
proteins
disease_involvement
DISEASE: Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. {ECO:0000269|PubMed:28805828}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
ec_number
3.6.-.-
uniprot
proteins
function
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 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). {ECO:0000250|UniProtKB:P53323, ECO:0000250|UniProtKB:Q9UYB9, ECO:0000269|PubMed:11546806, ECO:0000305|PubMed:22912744, ECO:0000305|PubMed:27903914}.
uniprot
proteins
mass_dalton
28160
uniprot
proteins
protein_family
BUD32 family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
11546806
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12659830
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22912744
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27903914
uniprot
proteins
pubmed
28805828
uniprot
proteins
sequence_length
253
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:27903914, ECO:0000269|PubMed:28805828}.
uniprot
proteins