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Aliases for TPRKB Gene

Aliases for TPRKB Gene

  • TP53RK Binding Protein 2 3 5
  • PRPK (P53-Related Protein Kinase)-Binding Protein 3
  • EKC/KEOPS Complex Subunit TPRKB 3
  • TP53RK-Binding Protein 4
  • PRPK-Binding Protein 4
  • CGI-121 3
  • CGI121 3
  • GAMOS5 3

External Ids for TPRKB Gene

Previous GeneCards Identifiers for TPRKB Gene

  • GC02M073869
  • GC02M073955

Summaries for TPRKB Gene

GeneCards Summary for TPRKB Gene

TPRKB (TP53RK Binding Protein) is a Protein Coding gene. Diseases associated with TPRKB include Galloway-Mowat Syndrome 5 and Galloway-Mowat Syndrome. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot for TPRKB 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. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (By similarity).

Additional gene information for TPRKB Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPRKB Gene

Genomics for TPRKB Gene

GeneHancer (GH) Regulatory Elements for TPRKB Gene

Promoters and enhancers for TPRKB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I073736 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 561.3 +2.9 2888 2.2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 CBX5 TPRKB PCGF1 DUSP11 CCT7 ENSG00000273245 ALMS1 TTC31 NAT8B
GH02I073699 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 21.4 +39.0 39024 3.6 HDAC1 FOXA2 RAD21 YY1 SCRT2 ATF7 SMARCA5 RXRA MIER2 REST NAT8B NAT8 TPRKB ALMS1P1
GH02I073069 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 +669.2 669165 3.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 SFXN5 DUSP11 CCT7 ENSG00000273245 ALMS1 TPRKB SMYD5 DGUOK-AS1 RAB11FIP5 GC02M073119
GH02I073232 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 +505.8 505771 3.9 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 NFYC CCT7 PRADC1 DUSP11 ENSG00000273245 MOB1A FBXO41 TPRKB ALMS1 DGUOK-AS1 PIR47890
GH02I074454 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 -717.0 -717004 5.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 WBP1 INO80B PCGF1 TTC31 AUP1 MOGS CCDC142 DUSP11 ENSG00000273245 LBX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TPRKB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TPRKB gene promoter:

Genomic Locations for TPRKB Gene

Genomic Locations for TPRKB Gene
chr2:73,729,104-73,740,104
(GRCh38/hg38)
Size:
11,001 bases
Orientation:
Minus strand
chr2:73,956,231-73,964,527
(GRCh37/hg19)

Genomic View for TPRKB Gene

Genes around TPRKB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TPRKB Gene

Proteins for TPRKB Gene

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

    Protein Symbol:
    Q9Y3C4-TPRKB_HUMAN
    Recommended name:
    EKC/KEOPS complex subunit TPRKB
    Protein Accession:
    Q9Y3C4
    Secondary Accessions:
    • D6W5H6
    • Q8IWR6
    • Q8IWR7
    • Q9H3K4

    Protein attributes for TPRKB Gene

    Size:
    175 amino acids
    Molecular mass:
    19661 Da
    Quaternary structure:
    • Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes. Interacts with TP53RK/PRPK.

    Three dimensional structures from OCA and Proteopedia for TPRKB Gene

    Alternative splice isoforms for TPRKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TPRKB Gene

Post-translational modifications for TPRKB Gene

  • Ubiquitination at posLast=2121
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TPRKB Gene

Domains & Families for TPRKB Gene

Gene Families for TPRKB Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TPRKB Gene

Suggested Antigen Peptide Sequences for TPRKB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3C4

UniProtKB/Swiss-Prot:

TPRKB_HUMAN :
  • Belongs to the CGI121/TPRKB family.
Family:
  • Belongs to the CGI121/TPRKB family.
genes like me logo Genes that share domains with TPRKB: view

Function for TPRKB Gene

Molecular function for TPRKB 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. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. TPRKB acts as an allosteric effector that regulates the t(6)A activity of the complex. TPRKB is not required for tRNA modification (By similarity).

Phenotypes From GWAS Catalog for TPRKB Gene

Gene Ontology (GO) - Molecular Function for TPRKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019901 protein kinase binding IPI 12659830
genes like me logo Genes that share ontologies with TPRKB: view

Phenotypes for TPRKB Gene

genes like me logo Genes that share phenotypes with TPRKB: view

Human Phenotype Ontology for TPRKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TPRKB Gene

Localization for TPRKB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPRKB 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 TPRKB gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TPRKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000408 EKC/KEOPS complex IDA 27903914
GO:0005634 nucleus IEA,IDA 12659830
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 12659830
genes like me logo Genes that share ontologies with TPRKB: view

Pathways & Interactions for TPRKB Gene

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

Pathways by source for TPRKB Gene

Gene Ontology (GO) - Biological Process for TPRKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008033 tRNA processing IEA --
genes like me logo Genes that share ontologies with TPRKB: view

No data available for SIGNOR curated interactions for TPRKB Gene

Drugs & Compounds for TPRKB Gene

No Compound Related Data Available

Transcripts for TPRKB Gene

Unigene Clusters for TPRKB Gene

TP53RK binding protein:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d ^ 9
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - - - -
SP9: -
SP10: -
SP11: - - - - - -
SP12: - - - - - -
SP13:
SP14: - - - - - - - -
SP15: - - - -
SP16: - - -
SP17: - - -
SP18: - - - - -

Relevant External Links for TPRKB Gene

GeneLoc Exon Structure for
TPRKB
ECgene alternative splicing isoforms for
TPRKB

Expression for TPRKB Gene

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

Protein differential expression in normal tissues from HIPED for TPRKB Gene

This gene is overexpressed in NK cells (6.2) and Spleen (6.1).

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



Protein tissue co-expression partners for TPRKB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TPRKB Gene:

TPRKB

SOURCE GeneReport for Unigene cluster for TPRKB Gene:

Hs.157401

mRNA Expression by UniProt/SwissProt for TPRKB Gene:

Q9Y3C4-TPRKB_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TPRKB Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with TPRKB: 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 TPRKB Gene

Orthologs for TPRKB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TPRKB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TPRKB 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia TPRKB 33 34
  • 92.57 (n)
cow
(Bos Taurus)
Mammalia TPRKB 33 34
  • 91.81 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910911 33
  • 86.86 (n)
mouse
(Mus musculus)
Mammalia Tprkb 33 16 34
  • 86.1 (n)
oppossum
(Monodelphis domestica)
Mammalia TPRKB 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TPRKB 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves TPRKB 33 34
  • 73.56 (n)
lizard
(Anolis carolinensis)
Reptilia TPRKB 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tprkb 33
  • 71.1 (n)
MGC75657 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53277 33
zebrafish
(Danio rerio)
Actinopterygii tprkb 33 34
  • 64.94 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1574 33
worm
(Caenorhabditis elegans)
Secernentea W03F8.4 33 34
  • 48.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CGI121 34 36
  • 29 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G34412 33
  • 46.67 (n)
rice
(Oryza sativa)
Liliopsida Os01g0142200 33
  • 47.47 (n)
Species where no ortholog for TPRKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TPRKB Gene

ENSEMBL:
Gene Tree for TPRKB (if available)
TreeFam:
Gene Tree for TPRKB (if available)

Paralogs for TPRKB Gene

Pseudogenes.org Pseudogenes for TPRKB Gene

genes like me logo Genes that share paralogs with TPRKB: view

No data available for Paralogs for TPRKB Gene

Variants for TPRKB Gene

Sequence variations from dbSNP and Humsavar for TPRKB Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000301500 -- 73,741,544(-) A/G upstream_transcript_variant
rs1000474066 -- 73,737,689(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000525991 -- 73,737,938(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000983296 -- 73,731,853(-) G/A intron_variant
rs1000993173 -- 73,731,586(-) C/G intron_variant

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

Variant ID Type Subtype PubMed ID
dgv3870n100 CNV gain 25217958
esv2759060 CNV gain 17122850
nsv1003153 CNV loss 25217958
nsv834260 CNV gain 17160897

Variation tolerance for TPRKB Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPRKB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TPRKB Gene

MalaCards: The human disease database

(2) MalaCards diseases for TPRKB Gene - From: HGMD, OMIM, ClinVar, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
galloway-mowat syndrome 5
  • gamos5
galloway-mowat syndrome
  • galloway syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TPRKB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TPRKB

genes like me logo Genes that share disorders with TPRKB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TPRKB Gene

Publications for TPRKB Gene

  1. Identification of CGI-121, a novel PRPK (p53-related protein kinase)-binding protein. (PMID: 12659830) Miyoshi A … Ueda N (Biochemical and biophysical research communications 2003) 2 3 4 58
  2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 58
  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 58
  4. 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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TPRKB Gene

Sources for TPRKB Gene

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