InnateDB Protein
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IDBP-19107.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TSEN2
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Protein Name
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tRNA splicing endonuclease 2 homolog (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000284995
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InnateDB Gene
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IDBG-19103 (TSEN2)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:15109492}.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:15109492}. Nucleus, nucleolus {ECO:0000269PubMed:15109492}. Note=May be transiently localized in the nucleolus.
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Disease Associations |
Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389]: A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO:0000269PubMed:18711368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 and isoform 2 are widely expressed at very low level. {ECO:0000269PubMed:15109492}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
15
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0006388
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tRNA splicing, via endonucleolytic cleavage and ligation
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GO:0006397
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mRNA processing
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GO:0090502
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RNA phosphodiester bond hydrolysis, endonucleolytic
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Cellular Component |
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PDB ID |
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InterPro |
IPR006677
tRNA intron endonuclease, catalytic domain-like
IPR006678
tRNA intron endonuclease, N-terminal
IPR016589
tRNA-splicing endonuclease, SEN2 subunit
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PFAM |
PF01974
PF02778
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PRINTS |
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PIRSF |
PIRSF011789
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NCE0
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PhosphoSite |
PhosphoSite-Q8NCE0
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TrEMBL |
C9J7Z4
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UniProt Splice Variant |
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Entrez Gene |
80746
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UniGene |
Hs.629514
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RefSeq |
NP_079541
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HUGO |
HGNC:28422
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OMIM |
608753
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CCDS |
CCDS2611
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HPRD |
10576
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IMGT |
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EMBL |
AC018500
AC090947
AK074794
AK225875
AK300449
BC004178
BC004211
BC019582
BC021975
CH471055
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GenPept |
AAH04178
AAH04211
AAH19582
AAH21975
BAC11213
BAH13287
EAW64127
EAW64128
EAW64129
EAW64130
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