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TSEN34
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. Defects in TSEN34 are the cause of pontocerebellar hypoplasia type 2C (PCH2C). Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings. Belongs to the tRNA-intron endonuclease family. Note: This description may include information from UniProtKB.
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| Protein type: EC 4.6.1.16; Nucleolus; Ribonuclease |
| Chromosomal Location of Human Ortholog: 19q13.42 |
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Cellular Component: nucleoplasm; nucleus
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Molecular Function: tRNA-intron endonuclease activity
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Biological Process: tRNA splicing; tRNA-type intron splice site recognition and cleavage
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Disease: Pontocerebellar Hypoplasia, Type 2c
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Reference #:
Q9BSV6
(UniProtKB)
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Alt. Names/Synonyms: HsSen34; LENG5; leukocyte receptor cluster (LRC) member 5; Leukocyte receptor cluster member 5; PCH2C; SEN34; SEN34L; tRNA splicing endonuclease 34 homolog (S. cerevisiae); tRNA-intron endonuclease Sen34; tRNA-splicing endonuclease subunit Sen34; TSEN34
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Gene Symbols: TSEN34
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Molecular weight:
33,652 Da
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Basal Isoelectric point:
8.53
Predict pI for various phosphorylation states
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