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    TPRKB TP53RK binding protein [ Homo sapiens (human) ]

    Gene ID: 51002, updated on 2-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.1), colon (RPKM 6.1) and 25 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73729873..73737345, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73742992..73750466, complement)
    RS_2024_09 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 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. Genetic loci influencing kidney function and chronic kidney disease. Chambers JC, et al. Nat Genet, 2010 May. PMID 20383145, 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
    		not available

    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_2024_08

    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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