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    TP53RK TP53 regulating kinase [ Homo sapiens (human) ]

    Gene ID: 112858, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TP53RKprovided by HGNC
    Official Full Name
    TP53 regulating kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:16197
    See related
    Ensembl:ENSG00000172315 MIM:608679; AllianceGenome:HGNC:16197
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRPK; BUD32; TPRKB; GAMOS4; Nori-2; Nori-2p; dJ101A2; C20orf64
    Summary
    Enables p53 binding activity and protein serine/threonine kinase activity. Involved in protein phosphorylation. Located in cytoplasm and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 4. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 5.4), thyroid (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TP53RK in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46684365..46689444, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (48420644..48425723, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45313004..45318083, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 334 Neighboring gene zinc finger protein 840, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr20:45142238-45142472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45173599-45174450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17976 Neighboring gene osteoclast stimulatory transmembrane protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:45197011-45197512 Neighboring gene solute carrier family 13 member 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:45211603-45212425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:45212426-45213247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17977 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:45250755-45251328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45259736-45260484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45260485-45261231 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:45302100-45302256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45303169-45303683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45311939-45312450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17979 Neighboring gene TP53RK divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:45331499-45332271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45354240-45354740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:45354741-45355241 Neighboring gene solute carrier family 2 member 10 Neighboring gene uncharacterized LOC124904918

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. p53-related protein kinase confers poor prognosis and represents a novel therapeutic target in multiple myeloma. Hideshima T, et al. Blood, 2017 Mar 9. PMID 28082445, Free PMC Article
    2. Targeting PRPK Function Blocks Colon Cancer Metastasis. Zykova T, et al. Mol Cancer Ther, 2018 May. PMID 29483219, Free PMC Article
    3. A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. Hyun HS, et al. BMC Med Genet, 2018 Jul 27. PMID 30053862, Free PMC Article
    4. Phosphorylation and activation of the atypical kinase p53-related protein kinase (PRPK) by Akt/PKB. Facchin S, et al. Cell Mol Life Sci, 2007 Oct. PMID 17712528, Free PMC Article
    5. Functional homology between yeast piD261/Bud32 and human PRPK: both phosphorylate p53 and PRPK partially complements piD261/Bud32 deficiency. Facchin S, et al. FEBS Lett, 2003 Aug 14. PMID 12914926

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
      Title: TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
    2. Crystal structure of the human PRPK-TPRKB complex.
      Title: Crystal structure of the human PRPK-TPRKB complex.
    3. Finding indicate that levels of phosphorylated p53-related protein kinase (p-PRPK) were higher in metastatic versus malignant human colon adenocarcinomas.
      Title: Targeting PRPK Function Blocks Colon Cancer Metastasis.
    4. This is only the second report on GAMOS in association with a TP53RK mutation.
      Title: A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
    5. we show that TP53RK confers poor prognosis in multiple myeloma
      Title: p53-related protein kinase confers poor prognosis and represents a novel therapeutic target in multiple myeloma.
    6. In a study addressing genetic, social, and environmental contributors of chronic kidney disease with tubulointerstitial damages in Sri Lanka, TP53RK was not confirmed to be genetically significant.
      Title: An integrative study of the genetic, social and environmental determinants of chronic kidney disease characterized by tubulointerstitial damages in the North Central Region of Sri Lanka.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    8. activation of PRPK is mediated by another kinase, Akt/PKB, which phosphorylates PRPK at Ser250
      Title: Phosphorylation and activation of the atypical kinase p53-related protein kinase (PRPK) by Akt/PKB.
    9. A Small Ras-like GTPase protein Ray was indicated to modulate p53 transcriptional activity of PRPK.
      Title: A Small Ras-like protein Ray/Rab1c modulates the p53-regulating activity of PRPK.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Galloway-Mowat syndrome 4
    MedGen: C4540270 OMIM: 617730 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables AMP-activated protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-dependent protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables Rho-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables eukaryotic translation initiation factor 2alpha kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AS121 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AT120 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS139 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS14 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2BS36 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S10 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S28 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3S57 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T11 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T3 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T45 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3T6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H4S1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables p53 binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables ribosomal protein S6 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
    		  
    involved_in tRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in tRNA threonylcarbamoyladenosine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of EKC/KEOPS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of EKC/KEOPS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    EKC/KEOPS complex subunit TP53RK
    Names
    atypical serine/threonine protein kinase TP53RK
    p53-related protein kinase
    NP_291028.3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_033550.4 → NP_291028.3  EKC/KEOPS complex subunit TP53RK

      See identical proteins and their annotated locations for NP_291028.3

      Status: VALIDATED

      Source sequence(s)
      AB017505, BC035461
      Consensus CDS
      CCDS13401.1
      UniProtKB/Swiss-Prot
      B3KU44, Q3T977, Q5JZ01, Q6NZ60, Q96FM7, Q96S44, Q9NQE6
      UniProtKB/TrEMBL
      B2RCM6
      Related
      ENSP00000361186.3, ENST00000372114.4
      Conserved Domains (1) summary
      COG3642
      Location:36 → 253
      Bud32; tRNA A-37 threonylcarbamoyl transferase component Bud32 [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      46684365..46689444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      48420644..48425723 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96S44.2 GenPept UniProtKB/Swiss-Prot:Q96S44

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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