UniProtKB - Q9Y3C4 (TPRKB_HUMAN)
Protein
EKC/KEOPS complex subunit TPRKB
Gene
TPRKB
Organism
Homo sapiens (Human)
Status
Functioni
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t6A37) 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 t6A activity of the complex. TPRKB is not required for tRNA modification (PubMed:22912744, PubMed:28805828).1 Publication1 Publication
GO - Molecular functioni
- protein kinase binding Source: UniProtKB
GO - Biological processi
- tRNA threonylcarbamoyladenosine modification Source: UniProtKB
Keywordsi
Biological process | tRNA processing |
Enzyme and pathway databases
PathwayCommonsi | Q9Y3C4 |
Reactomei | R-HSA-6782315, tRNA modification in the nucleus and cytosol |
Names & Taxonomyi
Protein namesi | Recommended name: EKC/KEOPS complex subunit TPRKBCuratedAlternative name(s): PRPK-binding protein1 Publication TP53RK-binding protein1 Publication |
Gene namesi | Name:TPRKBImported ORF Names:CGI-1212 Publications, My019 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24259, TPRKB |
MIMi | 608680, gene |
neXtProti | NX_Q9Y3C4 |
VEuPathDBi | HostDB:ENSG00000144034.14 |
Subcellular locationi
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- EKC/KEOPS complex Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Galloway-Mowat syndrome 5 (GAMOS5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080355 | 136 | L → P in GAMOS5. 1 PublicationCorresponds to variant dbSNP:rs1553433412EnsemblClinVar. | 1 | |
Natural variantiVAR_080356 | 149 | Y → C in GAMOS5. 1 PublicationCorresponds to variant dbSNP:rs1233885358EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 51002 |
MalaCardsi | TPRKB |
MIMi | 617731, phenotype |
OpenTargetsi | ENSG00000144034 |
Orphaneti | 2065, Galloway-Mowat syndrome |
PharmGKBi | PA143485660 |
Miscellaneous databases
Pharosi | Q9Y3C4, Tbio |
Genetic variation databases
BioMutai | TPRKB |
DMDMi | 74735252 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000279220 | 1 – 175 | EKC/KEOPS complex subunit TPRKBAdd BLAST | 175 |
Proteomic databases
EPDi | Q9Y3C4 |
jPOSTi | Q9Y3C4 |
MassIVEi | Q9Y3C4 |
PaxDbi | Q9Y3C4 |
PeptideAtlasi | Q9Y3C4 |
PRIDEi | Q9Y3C4 |
ProteomicsDBi | 86011 [Q9Y3C4-1] 86012 [Q9Y3C4-2] 86013 [Q9Y3C4-3] |
PTM databases
iPTMneti | Q9Y3C4 |
MetOSitei | Q9Y3C4 |
PhosphoSitePlusi | Q9Y3C4 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000144034, Expressed in quadriceps femoris and 238 other tissues |
Genevisiblei | Q9Y3C4, HS |
Organism-specific databases
HPAi | ENSG00000144034, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsGO - Molecular functioni
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 119210, 46 interactors |
CORUMi | Q9Y3C4 |
IntActi | Q9Y3C4, 11 interactors |
STRINGi | 9606.ENSP00000272424 |
Miscellaneous databases
RNActi | Q9Y3C4, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9Y3C4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y3C4 |
Family & Domainsi
Sequence similaritiesi
Belongs to the CGI121/TPRKB family.Curated
Phylogenomic databases
eggNOGi | KOG4066, Eukaryota |
GeneTreei | ENSGT00390000012942 |
HOGENOMi | CLU_065847_2_0_1 |
InParanoidi | Q9Y3C4 |
OMAi | VCRMATK |
OrthoDBi | 1360669at2759 |
PhylomeDBi | Q9Y3C4 |
TreeFami | TF315098 |
Family and domain databases
Gene3Di | 3.30.2380.10, 1 hit |
InterProi | View protein in InterPro IPR013926, CGI121/TPRKB IPR036504, CGI121/TPRKB_sf |
PANTHERi | PTHR15840, PTHR15840, 1 hit |
Pfami | View protein in Pfam PF08617, CGI-121, 1 hit |
SUPFAMi | SSF143870, SSF143870, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9Y3C4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQLTHQLDLF PECRVTLLLF KDVKNAGDLR RKAMEGTIDG SLINPTVIVD
60 70 80 90 100
PFQILVAANK AVHLYKLGKM KTRTLSTEII FNLSPNNNIS EALKKFGISA
110 120 130 140 150
NDTSILIVYI EEGEKQINQE YLISQVEGHQ VSLKNLPEIM NITEVKKIYK
160 170
LSSQEESIGT LLDAIICRMS TKDVL
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 147 | K → R in AAG43133 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080355 | 136 | L → P in GAMOS5. 1 PublicationCorresponds to variant dbSNP:rs1553433412EnsemblClinVar. | 1 | |
Natural variantiVAR_080356 | 149 | Y → C in GAMOS5. 1 PublicationCorresponds to variant dbSNP:rs1233885358EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_023414 | 15 – 47 | Missing in isoform 2. 1 PublicationAdd BLAST | 33 | |
Alternative sequenceiVSP_023415 | 47 | V → VFHSCCPGWSAMARSWLTAT SASRVQAIVLPQPPELLGLQ in isoform 3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY157986 mRNA Translation: AAN76356.1 AY157987 mRNA Translation: AAN76357.1 AF060921 mRNA Translation: AAG43133.1 AF151879 mRNA Translation: AAD34116.1 CH471053 Genomic DNA Translation: EAW99720.1 CH471053 Genomic DNA Translation: EAW99722.1 BC029492 mRNA Translation: AAH29492.1 |
CCDSi | CCDS1927.1 [Q9Y3C4-1] CCDS82471.1 [Q9Y3C4-3] |
RefSeqi | NP_001317315.1, NM_001330386.1 [Q9Y3C4-3] NP_001317316.1, NM_001330387.1 [Q9Y3C4-3] NP_001317317.1, NM_001330388.1 [Q9Y3C4-1] NP_001317318.1, NM_001330389.1 [Q9Y3C4-1] NP_001317320.1, NM_001330391.1 [Q9Y3C4-2] NP_001317321.1, NM_001330392.1 [Q9Y3C4-2] NP_057142.1, NM_016058.3 [Q9Y3C4-1] XP_006712090.1, XM_006712027.3 XP_011531179.1, XM_011532877.2 XP_011531180.1, XM_011532878.2 XP_016859721.1, XM_017004232.1 XP_016859722.1, XM_017004233.1 XP_016859723.1, XM_017004234.1 |
Genome annotation databases
Ensembli | ENST00000272424; ENSP00000272424; ENSG00000144034 [Q9Y3C4-1] ENST00000318190; ENSP00000325398; ENSG00000144034 [Q9Y3C4-3] ENST00000409716; ENSP00000386936; ENSG00000144034 [Q9Y3C4-3] |
GeneIDi | 51002 |
KEGGi | hsa:51002 |
UCSCi | uc002sjn.3, human [Q9Y3C4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY157986 mRNA Translation: AAN76356.1 AY157987 mRNA Translation: AAN76357.1 AF060921 mRNA Translation: AAG43133.1 AF151879 mRNA Translation: AAD34116.1 CH471053 Genomic DNA Translation: EAW99720.1 CH471053 Genomic DNA Translation: EAW99722.1 BC029492 mRNA Translation: AAH29492.1 |
CCDSi | CCDS1927.1 [Q9Y3C4-1] CCDS82471.1 [Q9Y3C4-3] |
RefSeqi | NP_001317315.1, NM_001330386.1 [Q9Y3C4-3] NP_001317316.1, NM_001330387.1 [Q9Y3C4-3] NP_001317317.1, NM_001330388.1 [Q9Y3C4-1] NP_001317318.1, NM_001330389.1 [Q9Y3C4-1] NP_001317320.1, NM_001330391.1 [Q9Y3C4-2] NP_001317321.1, NM_001330392.1 [Q9Y3C4-2] NP_057142.1, NM_016058.3 [Q9Y3C4-1] XP_006712090.1, XM_006712027.3 XP_011531179.1, XM_011532877.2 XP_011531180.1, XM_011532878.2 XP_016859721.1, XM_017004232.1 XP_016859722.1, XM_017004233.1 XP_016859723.1, XM_017004234.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3ENP | X-ray | 2.48 | A/B | 1-175 | [»] | |
SMRi | Q9Y3C4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119210, 46 interactors |
CORUMi | Q9Y3C4 |
IntActi | Q9Y3C4, 11 interactors |
STRINGi | 9606.ENSP00000272424 |
PTM databases
iPTMneti | Q9Y3C4 |
MetOSitei | Q9Y3C4 |
PhosphoSitePlusi | Q9Y3C4 |
Genetic variation databases
BioMutai | TPRKB |
DMDMi | 74735252 |
Proteomic databases
EPDi | Q9Y3C4 |
jPOSTi | Q9Y3C4 |
MassIVEi | Q9Y3C4 |
PaxDbi | Q9Y3C4 |
PeptideAtlasi | Q9Y3C4 |
PRIDEi | Q9Y3C4 |
ProteomicsDBi | 86011 [Q9Y3C4-1] 86012 [Q9Y3C4-2] 86013 [Q9Y3C4-3] |
Protocols and materials databases
Antibodypediai | 31361, 215 antibodies |
DNASUi | 51002 |
Genome annotation databases
Ensembli | ENST00000272424; ENSP00000272424; ENSG00000144034 [Q9Y3C4-1] ENST00000318190; ENSP00000325398; ENSG00000144034 [Q9Y3C4-3] ENST00000409716; ENSP00000386936; ENSG00000144034 [Q9Y3C4-3] |
GeneIDi | 51002 |
KEGGi | hsa:51002 |
UCSCi | uc002sjn.3, human [Q9Y3C4-1] |
Organism-specific databases
CTDi | 51002 |
DisGeNETi | 51002 |
GeneCardsi | TPRKB |
HGNCi | HGNC:24259, TPRKB |
HPAi | ENSG00000144034, Low tissue specificity |
MalaCardsi | TPRKB |
MIMi | 608680, gene 617731, phenotype |
neXtProti | NX_Q9Y3C4 |
OpenTargetsi | ENSG00000144034 |
Orphaneti | 2065, Galloway-Mowat syndrome |
PharmGKBi | PA143485660 |
VEuPathDBi | HostDB:ENSG00000144034.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4066, Eukaryota |
GeneTreei | ENSGT00390000012942 |
HOGENOMi | CLU_065847_2_0_1 |
InParanoidi | Q9Y3C4 |
OMAi | VCRMATK |
OrthoDBi | 1360669at2759 |
PhylomeDBi | Q9Y3C4 |
TreeFami | TF315098 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y3C4 |
Reactomei | R-HSA-6782315, tRNA modification in the nucleus and cytosol |
Miscellaneous databases
BioGRID-ORCSi | 51002, 411 hits in 871 CRISPR screens |
ChiTaRSi | TPRKB, human |
EvolutionaryTracei | Q9Y3C4 |
GenomeRNAii | 51002 |
Pharosi | Q9Y3C4, Tbio |
PROi | PR:Q9Y3C4 |
RNActi | Q9Y3C4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000144034, Expressed in quadriceps femoris and 238 other tissues |
Genevisiblei | Q9Y3C4, HS |
Family and domain databases
Gene3Di | 3.30.2380.10, 1 hit |
InterProi | View protein in InterPro IPR013926, CGI121/TPRKB IPR036504, CGI121/TPRKB_sf |
PANTHERi | PTHR15840, PTHR15840, 1 hit |
Pfami | View protein in Pfam PF08617, CGI-121, 1 hit |
SUPFAMi | SSF143870, SSF143870, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TPRKB_HUMAN | |
Accessioni | Q9Y3C4Primary (citable) accession number: Q9Y3C4 Secondary accession number(s): D6W5H6 Q9H3K4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 6, 2007 |
Last sequence update: | November 1, 1999 | |
Last modified: | February 10, 2021 | |
This is version 147 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families