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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.42
Chromosome location (bp)
54189938 - 54194536
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. It probably carries the active site for 3'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'- end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Lyase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
mRNA processing, tRNA processing
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Lyases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0004519[endonuclease activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0006397[mRNA processing] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Enzymes ENZYME proteins Lyases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0004519[endonuclease activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0006397[mRNA processing] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Enzymes ENZYME proteins Lyases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0004519[endonuclease activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0006397[mRNA processing] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Enzymes ENZYME proteins Lyases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0004519[endonuclease activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0006397[mRNA processing] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Enzymes ENZYME proteins Lyases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0004519[endonuclease activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0006397[mRNA processing] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000213[tRNA-intron endonuclease activity] GO:0000214[tRNA-intron endonuclease complex] GO:0000379[tRNA-type intron splice site recognition and cleavage] GO:0003676[nucleic acid binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006388[tRNA splicing, via endonucleolytic cleavage and ligation] GO:0008033[tRNA processing] GO:0016829[lyase activity] GO:0090501[RNA phosphodiester bond hydrolysis] GO:0090502[RNA phosphodiester bond hydrolysis, endonucleolytic]
The Human Protein Atlas project is funded
