Aliases for TP53RK Gene

Aliases for TP53RK Gene

  • TP53 Regulating Kinase 2 3 5
  • P53-Related Protein Kinase 2 3 4
  • Atypical Serine/Threonine Protein Kinase TP53RK 3 4
  • EKC/KEOPS Complex Subunit TP53RK 3 4
  • EC 2.7.11.1 4 51
  • C20orf64 3 4
  • Nori-2p 2 3
  • Nori-2 3 4
  • BUD32 2 3
  • TPRKB 2 3
  • PRPK 3 4
  • Chromosome 20 Open Reading Frame 64 2
  • TP53-Regulating Kinase 4
  • EC 3.6.-.- 4
  • DJ101A2.2 2
  • DJ101A2 3
  • GAMOS4 3
  • TP53RK 5
  • Prpk 2

External Ids for TP53RK Gene

Previous HGNC Symbols for TP53RK Gene

  • C20orf64

Previous GeneCards Identifiers for TP53RK Gene

  • GC20M045998
  • GC20M044746
  • GC20M045313
  • GC20M042054

Summaries for TP53RK Gene

GeneCards Summary for TP53RK Gene

TP53RK (TP53 Regulating Kinase) is a Protein Coding gene. Diseases associated with TP53RK include Galloway-Mowat Syndrome 4 and Galloway-Mowat Syndrome. Among its related pathways are Regulation of TP53 Activity and Gene Expression. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity.

UniProtKB/Swiss-Prot Summary for TP53RK Gene

  • 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).

Gene Wiki entry for TP53RK Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TP53RK Gene

Genomics for TP53RK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TP53RK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TP53RK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TP53RK

Top Transcription factor binding sites by QIAGEN in the TP53RK gene promoter:
  • AML1a
  • E47
  • FOXD3
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • POU2F1a
  • STAT3

Genomic Locations for TP53RK Gene

Genomic Locations for TP53RK Gene
chr20:46,684,365-46,689,444
(GRCh38/hg38)
Size:
5,080 bases
Orientation:
Minus strand
chr20:45,313,004-45,318,418
(GRCh37/hg19)
Size:
5,415 bases
Orientation:
Minus strand

Genomic View for TP53RK Gene

Genes around TP53RK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TP53RK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TP53RK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP53RK Gene

Proteins for TP53RK Gene

  • Protein details for TP53RK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S44-PRPK_HUMAN
    Recommended name:
    EKC/KEOPS complex subunit TP53RK
    Protein Accession:
    Q96S44
    Secondary Accessions:
    • B3KU44
    • Q3T977
    • Q5JZ01
    • Q6NZ60
    • Q96FM7
    • Q9NQE6

    Protein attributes for TP53RK Gene

    Size:
    253 amino acids
    Molecular mass:
    28160 Da
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes.

neXtProt entry for TP53RK Gene

Selected DME Specific Peptides for TP53RK Gene

Q96S44:
  • VDLYVLE
  • VRLRGRK
  • RGRKRSM

Post-translational modifications for TP53RK Gene

  • Ubiquitination at Lys40
  • Modification sites at PhosphoSitePlus

Other Protein References for TP53RK Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for TP53RK Gene

Gene Families for TP53RK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for TP53RK Gene

Suggested Antigen Peptide Sequences for TP53RK Gene

GenScript: Design optimal peptide antigens:
  • p53-related protein kinase (PRPK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96S44

UniProtKB/Swiss-Prot:

PRPK_HUMAN :
  • This protein is considered an atypical serine/threonine kinase, because it lacks the conventional structural elements necessary for the substrate recognition as well as a lysine residue that in all other serine/threonine kinases participates in the catalytic event. TP53RK has protein kinase activity in vitro, but in the context of the EKC/KEOPS complex, the catalytic subunit OSGEP switches the activity of TP53RK from kinase into ATPase (By similarity).
  • Belongs to the protein kinase superfamily. BUD32 family.
Domain:
  • This protein is considered an atypical serine/threonine kinase, because it lacks the conventional structural elements necessary for the substrate recognition as well as a lysine residue that in all other serine/threonine kinases participates in the catalytic event. TP53RK has protein kinase activity in vitro, but in the context of the EKC/KEOPS complex, the catalytic subunit OSGEP switches the activity of TP53RK from kinase into ATPase (By similarity).
Family:
  • Belongs to the protein kinase superfamily. BUD32 family.
genes like me logo Genes that share domains with TP53RK: view

Function for TP53RK Gene

Molecular function for TP53RK Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:11546806};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:11546806};.

Enzyme Numbers (IUBMB) for TP53RK Gene

Phenotypes From GWAS Catalog for TP53RK Gene

Gene Ontology (GO) - Molecular Function for TP53RK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0002039 p53 binding IDA 11546806
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA,TAS --
GO:0005515 protein binding IPI 11546806
genes like me logo Genes that share ontologies with TP53RK: view
genes like me logo Genes that share phenotypes with TP53RK: view

Human Phenotype Ontology for TP53RK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53RK

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TP53RK Gene

Localization for TP53RK Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP53RK Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TP53RK gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for TP53RK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IDA 27903914
GO:0005634 nucleus IBA,IDA 11546806
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 28805828
genes like me logo Genes that share ontologies with TP53RK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TP53RK Gene

Pathways & Interactions for TP53RK Gene

genes like me logo Genes that share pathways with TP53RK: view

SIGNOR curated interactions for TP53RK Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TP53RK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA,IDA 11546806
GO:0008033 tRNA processing IEA --
GO:0016310 phosphorylation IEA --
GO:0070525 tRNA threonylcarbamoyladenosine metabolic process IBA 21873635
GO:1901796 regulation of signal transduction by p53 class mediator TAS --
genes like me logo Genes that share ontologies with TP53RK: view

Drugs & Compounds for TP53RK Gene

(1) Drugs for TP53RK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for TP53RK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with TP53RK: view

Transcripts for TP53RK Gene

mRNA/cDNA for TP53RK Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53RK

Alternative Splicing Database (ASD) splice patterns (SP) for TP53RK Gene

ExUns: 1a · 1b ^ 2a · 2b
SP1:
SP2:

Relevant External Links for TP53RK Gene

GeneLoc Exon Structure for
TP53RK

Expression for TP53RK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TP53RK Gene

Protein differential expression in normal tissues from HIPED for TP53RK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TP53RK Gene



Protein tissue co-expression partners for TP53RK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TP53RK

SOURCE GeneReport for Unigene cluster for TP53RK Gene:

Hs.440263

mRNA Expression by UniProt/SwissProt for TP53RK Gene:

Q96S44-PRPK_HUMAN
Tissue specificity: Highly expressed in testis. Weakly expressed in heart kidney and spleen.

Evidence on tissue expression from TISSUES for TP53RK Gene

  • Nervous system(4.7)
  • Intestine(4.3)
  • Spleen(4.3)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with TP53RK: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TP53RK Gene

Orthologs for TP53RK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TP53RK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TP53RK 30 31
  • 99.47 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TP53RK 30 31
  • 92.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TP53RK 30 31
  • 90.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 2810408M09Rik 31
  • 85 (a)
OneToMany
Trp53rk 30 31
  • 84.83 (n)
OneToMany
Trp53rka 17
Trp53rkb 17
Rat
(Rattus norvegicus)
Mammalia Tp53rk 30
  • 84.98 (n)
Oppossum
(Monodelphis domestica)
Mammalia TP53RK 31
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TP53RK 30 31
  • 72.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TP53RK 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tp53rk 30
  • 68.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17259 30
Zebrafish
(Danio rerio)
Actinopterygii tp53rk 30 31
  • 64.97 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10673 30 31
  • 53.36 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007476 30
  • 50.31 (n)
Worm
(Caenorhabditis elegans)
Secernentea F52C12.6 30 31
  • 50.23 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR331C 30
  • 45.64 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BUD32 30 31 33
  • 44.76 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09625g 30
  • 43.3 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G26110 30
  • 49.15 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0422300 30
  • 50.86 (n)
Os.39261 30
Corn
(Zea mays)
Liliopsida Zm.16761 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU04595 30
  • 53.12 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAP27G11.07c 30
  • 48.84 (n)
Species where no ortholog for TP53RK was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TP53RK Gene

ENSEMBL:
Gene Tree for TP53RK (if available)
TreeFam:
Gene Tree for TP53RK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TP53RK: view image

Paralogs for TP53RK Gene

No data available for Paralogs for TP53RK Gene

Variants for TP53RK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TP53RK Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
711244 Likely Benign: not provided 46,689,243(-) C/A MISSENSE_VARIANT
717598 Benign: not provided 46,689,392(-) G/A MISSENSE_VARIANT
726027 Benign: not provided 46,687,082(-) T/C MISSENSE_VARIANT
748761 Likely Benign: not provided 46,687,053(-) G/A SYNONYMOUS_VARIANT
753352 Likely Benign: not provided 46,689,331(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TP53RK Gene

Structural Variations from Database of Genomic Variants (DGV) for TP53RK Gene

Variant ID Type Subtype PubMed ID
nsv1061899 CNV loss 25217958

Variation tolerance for TP53RK Gene

Residual Variation Intolerance Score: 74.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.58; 56.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TP53RK Gene

Human Gene Mutation Database (HGMD)
TP53RK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TP53RK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TP53RK Gene

Disorders for TP53RK Gene

MalaCards: The human disease database

(9) MalaCards diseases for TP53RK Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
galloway-mowat syndrome 4
  • gamos4
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
galloway-mowat syndrome 1
  • gamos1
primary microcephaly
  • true microcephaly
galloway-mowat syndrome 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRPK_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Additional Disease Information for TP53RK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TP53RK: view

No data available for Genatlas for TP53RK Gene

Publications for TP53RK Gene

  1. Cloning and characterization of a p53-related protein kinase expressed in interleukin-2-activated cytotoxic T-cells, epithelial tumor cell lines, and the testes. (PMID: 11546806) Abe Y … Enomoto Y (The Journal of biological chemistry 2001) 2 3 4 23
  2. Functional homology between yeast piD261/Bud32 and human PRPK: both phosphorylate p53 and PRPK partially complements piD261/Bud32 deficiency. (PMID: 12914926) Facchin S … Pinna LA (FEBS letters 2003) 2 3 23
  3. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. (PMID: 27903914) Wan LC … Sicheri F (Nucleic acids research 2017) 3 4
  4. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. (PMID: 28805828) Braun DA … Hildebrandt F (Nature genetics 2017) 3 4
  5. The human EKC/KEOPS complex is recruited to Cullin2 ubiquitin ligases by the human tumour antigen PRAME. (PMID: 22912744) Costessi A … Stunnenberg HG (PloS one 2012) 3 4

Products for TP53RK Gene

Sources for TP53RK Gene