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TPRKB TP53RK binding protein [ Homo sapiens (human) ]

Gene ID: 51002, updated on 15-Jun-2019

Summary

Official Symbol
TPRKBprovided by HGNC
Official Full Name
TP53RK binding proteinprovided by HGNC
Primary source
HGNC:HGNC:24259
See related
Ensembl:ENSG00000144034 MIM:608680
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
Expression
Ubiquitous expression in testis (RPKM 8.1), colon (RPKM 6.1) and 25 other tissues See more
Orthologs

Genomic context

See TPRKB in Genome Data Viewer
Location:
2p13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (73729837..73737406, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73955744..73964765, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268418 Neighboring gene N-acetyltransferase 8B (putative, gene/pseudogene) Neighboring gene dual specificity phosphatase 11 Neighboring gene chromosome 2 open reading frame 78

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
GALLOWAY-MOWAT SYNDROME 5
MedGen: C4540274 OMIM: 617731 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA modification in the nucleus and cytosol, organism-specific biosystem (from REACTOME)
    tRNA modification in the nucleus and cytosol, organism-specific biosystemAt least 92 distinct tRNA nucleotide base modifications have been found. The modifications are made post-transcriptionally by a large group of disparate enzymes located in the nucleus, cytosol, and m...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
tRNA threonylcarbamoyladenosine modification IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
EKC/KEOPS complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EKC/KEOPS complex subunit TPRKB
Names
PRPK (p53-related protein kinase)-binding protein

NCBI Reference Sequences (RefSeq)

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

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS82471.1
    UniProtKB/Swiss-Prot
    Q9Y3C4
    Related
    ENSP00000325398.7, ENST00000318190.7
  2. NM_001330387.1NP_001317316.1  EKC/KEOPS complex subunit TPRKB isoform a

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS82471.1
    UniProtKB/Swiss-Prot
    Q9Y3C4
    Related
    ENSP00000386936.2, ENST00000409716.6
  3. NM_001330388.1NP_001317317.1  EKC/KEOPS complex subunit TPRKB isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Consensus CDS
    CCDS1927.1
    UniProtKB/Swiss-Prot
    Q9Y3C4
  4. NM_001330389.1NP_001317318.1  EKC/KEOPS complex subunit TPRKB isoform b

    Status: VALIDATED

    Source sequence(s)
    AC092653, BC029492
    Consensus CDS
    CCDS1927.1
    UniProtKB/Swiss-Prot
    Q9Y3C4
  5. NM_001330390.1NP_001317319.1  EKC/KEOPS complex subunit TPRKB isoform c

    Status: VALIDATED

    Source sequence(s)
    AC092653
    Conserved Domains (1) summary
    pfam08617
    Location:30154
    CGI-121; Kinase binding protein CGI-121
  6. NM_001330391.1NP_001317320.1  EKC/KEOPS complex subunit TPRKB isoform d

    Status: VALIDATED

    Source sequence(s)
    AC092653
    UniProtKB/Swiss-Prot
    Q9Y3C4
  7. NM_001330392.1NP_001317321.1  EKC/KEOPS complex subunit TPRKB isoform d

    Status: VALIDATED

    Source sequence(s)
    AC092653
    UniProtKB/Swiss-Prot
    Q9Y3C4
  8. NM_016058.4NP_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
    Q9Y3C4
    Related
    ENSP00000272424.5, ENST00000272424.9
    Conserved Domains (1) summary
    pfam08617
    Location:20172
    CGI-121; Kinase binding protein CGI-121

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    73729837..73737406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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