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Protein

EKC/KEOPS complex subunit TPRKB

Gene

TPRKB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 processtRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6782315 tRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
EKC/KEOPS complex subunit TPRKBCurated
Alternative name(s):
PRPK-binding protein1 Publication
TP53RK-binding protein1 Publication
Gene namesi
Name:TPRKBImported
ORF Names:CGI-1212 Publications, My019
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144034.14
HGNCiHGNC:24259 TPRKB
MIMi608680 gene
neXtProtiNX_Q9Y3C4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Galloway-Mowat syndrome 5 (GAMOS5)1 Publication
The disease is caused by mutations 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.
See also OMIM:617731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080355136L → P in GAMOS5. 1 Publication1
Natural variantiVAR_080356149Y → C in GAMOS5. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MalaCardsiTPRKB
MIMi617731 phenotype
OpenTargetsiENSG00000144034
PharmGKBiPA143485660

Polymorphism and mutation databases

BioMutaiTPRKB
DMDMi74735252

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002792201 – 175EKC/KEOPS complex subunit TPRKBAdd BLAST175

Proteomic databases

EPDiQ9Y3C4
PaxDbiQ9Y3C4
PeptideAtlasiQ9Y3C4
PRIDEiQ9Y3C4
ProteomicsDBi86011
86012 [Q9Y3C4-2]
86013 [Q9Y3C4-3]

PTM databases

iPTMnetiQ9Y3C4
PhosphoSitePlusiQ9Y3C4

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000144034
CleanExiHS_TPRKB
GenevisibleiQ9Y3C4 HS

Organism-specific databases

HPAiHPA035712

Interactioni

Subunit structurei

Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes (PubMed:22912744, PubMed:28805828). Interacts with TP53RK/PRPK (PubMed:12659830).3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119210, 44 interactors
IntActiQ9Y3C4, 3 interactors
STRINGi9606.ENSP00000272424

Structurei

Secondary structure

1175
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi3 – 6Combined sources4
Beta strandi14 – 22Combined sources9
Helixi26 – 35Combined sources10
Beta strandi40 – 43Combined sources4
Helixi45 – 47Combined sources3
Helixi51 – 65Combined sources15
Turni66 – 68Combined sources3
Beta strandi71 – 74Combined sources4
Helixi75 – 83Combined sources9
Beta strandi85 – 87Combined sources3
Helixi89 – 96Combined sources8
Beta strandi103 – 111Combined sources9
Helixi120 – 123Combined sources4
Beta strandi126 – 131Combined sources6
Helixi133 – 138Combined sources6
Helixi142 – 149Combined sources8
Helixi158 – 171Combined sources14

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3ENPX-ray2.48A/B1-175[»]
ProteinModelPortaliQ9Y3C4
SMRiQ9Y3C4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y3C4

Family & Domainsi

Sequence similaritiesi

Belongs to the CGI121/TPRKB family.Curated

Phylogenomic databases

eggNOGiKOG4066 Eukaryota
ENOG4111MCN LUCA
GeneTreeiENSGT00390000012942
HOGENOMiHOG000272647
HOVERGENiHBG056797
InParanoidiQ9Y3C4
KOiK15901
OMAiDAVVCRM
OrthoDBiEOG091G0SS4
PhylomeDBiQ9Y3C4
TreeFamiTF315098

Family and domain databases

Gene3Di3.30.2380.10, 1 hit
InterProiView protein in InterPro
IPR013926 CGI121/TPRKB
IPR036504 CGI121/TPRKB_sf
PANTHERiPTHR15840 PTHR15840, 1 hit
PfamiView protein in Pfam
PF08617 CGI-121, 1 hit
SUPFAMiSSF143870 SSF143870, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y3C4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:175
Mass (Da):19,661
Last modified:November 1, 1999 - v1
Checksum:iFB13C0923148C157
GO
Isoform 2 (identifier: Q9Y3C4-2) [UniParc]FASTAAdd to basket
Also known as: S1

The sequence of this isoform differs from the canonical sequence as follows:
     15-47: Missing.

Show »
Length:142
Mass (Da):16,093
Checksum:i12388A00E0205E07
GO
Isoform 3 (identifier: Q9Y3C4-3) [UniParc]FASTAAdd to basket
Also known as: L1

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: V → VFHSCCPGWSAMARSWLTATSASRVQAIVLPQPPELLGLQ

Show »
Length:214
Mass (Da):23,854
Checksum:i8961692D7DF630C7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti147K → R in AAG43133 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080355136L → P in GAMOS5. 1 Publication1
Natural variantiVAR_080356149Y → C in GAMOS5. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02341415 – 47Missing in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_02341547V → VFHSCCPGWSAMARSWLTAT SASRVQAIVLPQPPELLGLQ in isoform 3. 1 Publication1

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
CCDSiCCDS1927.1 [Q9Y3C4-1]
CCDS82471.1 [Q9Y3C4-3]
RefSeqiNP_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 [Q9Y3C4-3]
XP_011531179.1, XM_011532877.2 [Q9Y3C4-3]
XP_011531180.1, XM_011532878.2 [Q9Y3C4-3]
XP_016859721.1, XM_017004232.1 [Q9Y3C4-3]
XP_016859722.1, XM_017004233.1 [Q9Y3C4-3]
XP_016859723.1, XM_017004234.1 [Q9Y3C4-1]
UniGeneiHs.157401

Genome annotation databases

EnsembliENST00000272424; ENSP00000272424; ENSG00000144034 [Q9Y3C4-1]
ENST00000318190; ENSP00000325398; ENSG00000144034 [Q9Y3C4-3]
ENST00000409716; ENSP00000386936; ENSG00000144034 [Q9Y3C4-3]
GeneIDi51002
KEGGihsa:51002
UCSCiuc002sjn.3 human [Q9Y3C4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTPRKB_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3C4
Secondary accession number(s): D6W5H6
, Q8IWR6, Q8IWR7, Q9H3K4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: November 1, 1999
Last modified: June 20, 2018
This is version 131 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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