TPRKB
entrez
51002
canonical
uniprot
Q9Y3C4
canonical
ensembl
ENSG00000144034
resolver
ensembl
ENSG00000291480
resolver
ensp
ENSP00000272424
resolver
ensp
ENSP00000325398
resolver
ensp
ENSP00000386936
resolver
ensp
ENSP00000574862
resolver
ensp
ENSP00000609414
resolver
ensp
ENSP00000609419
resolver
ensp
ENSP00000745015
resolver
genesymbol
TPRKB
resolver
hgnc
HGNC:24259
resolver
uniprot
D6W5H6
resolver
uniprot
Q8IWR6
resolver
uniprot
Q8IWR7
resolver
uniprot
Q9H3K4
resolver
uniprot_entry
TPRKB_HUMAN
resolver
uniprot_sec
D6W5H6
resolver
uniprot_sec
Q8IWR6
resolver
uniprot_sec
Q8IWR7
resolver
uniprot_sec
Q9H3K4
resolver
amino_acid_sequence
MQLTHQLDLFPECRVTLLLFKDVKNAGDLRRKAMEGTIDGSLINPTVIVDPFQILVAANKAVHLYKLGKMKTRTLSTEIIFNLSPNNNISEALKKFGISANDTSILIVYIEEGEKQINQEYLISQVEGHQVSLKNLPEIMNITEVKKIYKLSSQEESIGTLLDAIICRMSTKDVL
uniprot
proteins
disease_involvement
DISEASE: Galloway-Mowat syndrome 5 (GAMOS5) [MIM:617731]: 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
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:28805828). 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:28805828). TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828). {ECO:0000269|PubMed:28805828, ECO:0000305|PubMed:22912744}.
uniprot
proteins
mass_dalton
19661
uniprot
proteins
protein_family
CGI121/TPRKB family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12659830
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18951093
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22912744
uniprot
proteins
pubmed
27903914
uniprot
proteins
pubmed
28805828
uniprot
proteins
sequence_length
175
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:12659830, ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000269|PubMed:12659830, ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:28805828}.
uniprot
proteins