Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51002
Gene name	TP53RK binding protein
Gene symbol	TPRKB
Synonyms (NCBI Gene)	CGI-121CGI121GAMOS5
Chromosome	2
Chromosome location	2p13.1

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

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
MIRT551895	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT551894	hsa-miR-627-3p	PAR-CLIP	21572407
MIRT551893	hsa-miR-7159-3p	PAR-CLIP	21572407
MIRT551892	hsa-miR-4482-3p	PAR-CLIP	21572407
MIRT020915	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020915	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT551897	hsa-miR-5700	PAR-CLIP	21572407
MIRT551896	hsa-miR-5003-3p	PAR-CLIP	21572407
MIRT551895	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT551894	hsa-miR-627-3p	PAR-CLIP	21572407
MIRT551893	hsa-miR-7159-3p	PAR-CLIP	21572407
MIRT551892	hsa-miR-4482-3p	PAR-CLIP	21572407
MIRT2134616	hsa-miR-155	CLIP-seq
MIRT2134617	hsa-miR-4251	CLIP-seq
MIRT2134618	hsa-miR-4307	CLIP-seq
MIRT2134619	hsa-miR-4663	CLIP-seq
MIRT2134620	hsa-miR-4728-3p	CLIP-seq
MIRT2134621	hsa-miR-580	CLIP-seq

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
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12659830, 28805828
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	28805828
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	12659830
GO:0005829	Component	Cytosol	IEA
GO:0008033	Process	TRNA processing	IEA
GO:0019901	Function	Protein kinase binding	IPI	12659830

MIM	HGNC	e!Ensembl
608680	24259	ENSG00000144034

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

MQLTHQLDLFPECRVTLLLFKDVKNAGDLRRKAMEGTIDGSLINPTVIVDPFQILVAANK
AVHLYKLGKMKTRTLSTEIIFNLSPNNNISEALKKFGISANDTSILIVYIEEGEKQINQE
YLISQVEGHQVSLKNLPEIMNITEVKKIYKLSSQEESIGTLLDAIICRMSTKDVL

Sequence length

175

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Galloway-Mowat syndrome 5	Likely pathogenic; Pathogenic	rs754783287, rs1233885358	RCV003990530 RCV000512903

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Nephrotic syndrome	Conflicting classifications of pathogenicity	rs1553433412	RCV001849391
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs147434102	RCV005931525
TPRKB-related disorder	Uncertain significance; Likely benign	rs145872059, rs1334200376, rs539761379, rs149388000, rs202183143, rs749784962	RCV004756446 RCV003391621 RCV003961518 RCV003934518 RCV003949865 RCV003956785

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Galloway Mowat syndrome	Associate	33547416
Neoplasms	Associate	33547416

TPRKB (TP53RK binding protein)