TPRKB (TP53RK binding protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51002
Gene name Gene Name - the full gene name approved by the HGNC.
TP53RK binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPRKB
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-121, CGI121, GAMOS5
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs1233885358 T>C Pathogenic Coding sequence variant, missense variant
rs1553433412 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
miRTarBase ID miRNA Experiments Reference
MIRT020915 hsa-miR-155-5p Proteomics 18668040
MIRT029846 hsa-miR-26b-5p Microarray 19088304
MIRT036857 hsa-miR-877-3p CLASH 23622248
MIRT551897 hsa-miR-5700 PAR-CLIP 21572407
MIRT551896 hsa-miR-5003-3p PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000408 Component EKC/KEOPS complex IBA
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 28805828
GO:0002949 Process TRNA threonylcarbamoyladenosine modification IBA
GO:0002949 Process TRNA threonylcarbamoyladenosine modification IDA 28805828
GO:0005515 Function Protein binding IPI 16189514, 23414517, 23455922, 25416956, 27903914, 28805828, 31515488, 32707033, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608680 24259 ENSG00000144034
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y3C4
Protein name EKC/KEOPS complex subunit TPRKB (PRPK-binding protein) (TP53RK-binding protein)
Protein function Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:28805828). The complex is probably
PDB 3ENP , 6WQX , 7SZA , 7SZB , 7SZC , 7SZD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08617 CGI-121 20 → 172 Kinase binding protein CGI-121 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12659830}.
Sequence
Sequence length 175
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Galloway-Mowat Syndrome galloway-mowat syndrome 5 rs1233885358 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Nephrotic Syndrome nephrotic syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Galloway Mowat syndrome Associate 33547416
Neoplasms Associate 33547416