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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
3
Cytoband
p25.2
Chromosome location (bp)
12484421 - 12541549
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. Isoform 1 probably carries the active site for 5'-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. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity....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 one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Lyases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
Enzymes ENZYME proteins Lyases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
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)
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)
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)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
Enzymes ENZYME proteins Lyases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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]
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
Enzymes ENZYME proteins Lyases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
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)
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:0003676[nucleic acid binding] GO:0005634[nucleus] 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]
SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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]
SCAMPI predicted membrane proteins 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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]
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
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)
Enzymes ENZYME proteins Lyases SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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)
THUMBUP predicted membrane proteins 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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]
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)
SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins 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:0003676[nucleic acid binding] GO:0005634[nucleus] 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
