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TPRKB TP53RK binding protein [ Homo sapiens (human) ]

Gene ID: 51002, updated on 5-Mar-2024

Summary

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Official Symbol
TPRKBprovided by HGNC
Official Full Name
TP53RK binding proteinprovided by HGNC
Primary source
HGNC:HGNC:24259
See related
Ensembl:ENSG00000144034 MIM:608680; AllianceGenome:HGNC:24259
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
CGI121; GAMOS5; CGI-121
Summary
Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 8.1), colon (RPKM 6.1) and 25 other tissues See more
Orthologs
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Genomic context

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See TPRKB in Genome Data Viewer
Location:
2p13.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73729873..73737345, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73742992..73750466, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73957000..73964472, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907848 Neighboring gene uncharacterized LOC124905592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16031 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73981125-73981308 Neighboring gene dual specificity phosphatase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16034 Neighboring gene chromosome 2 open reading frame 78

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
  • 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. Crystal structure of the human PRPK-TPRKB complex. Li J, et al. Commun Biol, 2021 Feb 5. PMID 33547416, Free PMC Article
  2. Identification of TP53RK-Binding Protein (TPRKB) Dependency in TP53-Deficient Cancers. Goswami MT, et al. Mol Cancer Res, 2019 Aug. PMID 31110156, Free PMC Article
  3. Identification of CGI-121, a novel PRPK (p53-related protein kinase)-binding protein. Miyoshi A, et al. Biochem Biophys Res Commun, 2003 Apr 4. PMID 12659830
  4. A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. Nicholson G, et al. PLoS Genet, 2011 Sep. PMID 21931564, Free PMC Article
  5. Proteomic analysis of the human KEOPS complex identifies C14ORF142 as a core subunit homologous to yeast Gon7. Wan LC, et al. Nucleic Acids Res, 2017 Jan 25. PMID 27903914, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Crystal structure of the human PRPK-TPRKB complex.
    Title: Crystal structure of the human PRPK-TPRKB complex.
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 5
MedGen: C4540274 OMIM: 617731 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection.
EBI GWAS Catalog
Genetic loci influencing kidney function and chronic kidney disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in tRNA threonylcarbamoyladenosine modification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA threonylcarbamoyladenosine modification IDA
Inferred from Direct Assay
more info
 PubMed 
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 cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
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 TPRKB
Names
PRPK (p53-related protein kinase)-binding protein

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_001330386.2 → NP_001317315.1  EKC/KEOPS complex subunit TPRKB isoform a

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS82471.1
    UniProtKB/TrEMBL
    A8K4V6
    Related
    ENSP00000325398.7, ENST00000318190.7

  2. NM_001330387.2 → NP_001317316.1  EKC/KEOPS complex subunit TPRKB isoform a

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS82471.1
    UniProtKB/TrEMBL
    A8K4V6
    Related
    ENSP00000386936.2, ENST00000409716.6

  3. NM_001330388.2 → NP_001317317.1  EKC/KEOPS complex subunit TPRKB isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS1927.1
    UniProtKB/Swiss-Prot
    D6W5H6, Q8IWR6, Q8IWR7, Q9H3K4, Q9Y3C4
    UniProtKB/TrEMBL
    A8K4V6

  4. NM_001330389.2 → NP_001317318.1  EKC/KEOPS complex subunit TPRKB isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092653, BC029492
    Consensus CDS
    CCDS1927.1
    UniProtKB/Swiss-Prot
    D6W5H6, Q8IWR6, Q8IWR7, Q9H3K4, Q9Y3C4
    UniProtKB/TrEMBL
    A8K4V6

  5. NM_001330390.2 → NP_001317319.1  EKC/KEOPS complex subunit TPRKB isoform c

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Conserved Domains (1) summary
    pfam08617
    Location:30 → 154
    CGI-121; Kinase binding protein CGI-121

  6. NM_001330391.2 → NP_001317320.1  EKC/KEOPS complex subunit TPRKB isoform d

    Status: VALIDATED

    Source sequence(s)
    AC092653
    UniProtKB/TrEMBL
    A8K4V6

  7. NM_001330392.2 → NP_001317321.1  EKC/KEOPS complex subunit TPRKB isoform d

    Status: VALIDATED

    Source sequence(s)
    AC092653
    UniProtKB/TrEMBL
    A8K4V6

  8. NM_016058.5 → NP_057142.1  EKC/KEOPS complex subunit TPRKB isoform b

    See identical proteins and their annotated locations for NP_057142.1

    Status: VALIDATED

    Source sequence(s)
    AF151879, AI759966, DA688967
    Consensus CDS
    CCDS1927.1
    UniProtKB/Swiss-Prot
    D6W5H6, Q8IWR6, Q8IWR7, Q9H3K4, Q9Y3C4
    UniProtKB/TrEMBL
    A8K4V6
    Related
    ENSP00000272424.5, ENST00000272424.11
    Conserved Domains (1) summary
    pfam08617
    Location:20 → 172
    CGI-121; Kinase binding protein CGI-121

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    73729873..73737345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791766.1 Reference GRCh38.p14 PATCHES

    Range
    399371..406843 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    73742992..73750466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y3C4.1 GenPept UniProtKB/Swiss-Prot:Q9Y3C4

Gene LinkOut

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

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