TP53RK TP53 regulating kinase [Homo sapiens (human)] - Gene

Summary

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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
Title: TP53RK Drives the Progression of Chronic Kidney Disease by Phosphorylating Birc5.
Crystal structure of the human PRPK-TPRKB complex.
Title: Crystal structure of the human PRPK-TPRKB complex.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
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.
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.

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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G27374 (e-PCR)
- UniSTS:46107

AL022352 (e-PCR)
- UniSTS:8503

STS-AA113277 (e-PCR)
- UniSTS:14190

RH79978 (e-PCR)
- UniSTS:89781

RH45751 (e-PCR)
- UniSTS:48837

RH66104 (e-PCR)
- UniSTS:76792

D20S1132 (e-PCR)
- UniSTS:76793

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 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

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

EC 2.7.11.1

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)

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]