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TSEN54
Non-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. 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 TSEN54 are the cause of pontocerebellar hypoplasia type 4 (PCH4). Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH4 is characterized by severe course and early lethality. Defects in TSEN54 are the cause of pontocerebellar hypoplasia type 2A (PCH2A). 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 SEN54 family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Nucleolus |
| Chromosomal Location of Human Ortholog: 17q25.1 |
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Cellular Component: nucleoplasm; tRNA-intron endonuclease complex
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Molecular Function: protein binding; 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 2a; Pontocerebellar Hypoplasia, Type 4
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Reference #:
Q7Z6J9
(UniProtKB)
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Alt. Names/Synonyms: FLJ37147; HsSEN54; PCH2A; PCH4; SEN54; SEN54 homolog; SEN54L; tRNA splicing endonuclease 54 homolog (S. cerevisiae); tRNA-intron endonuclease Sen54; tRNA-splicing endonuclease subunit Sen54; TSEN54
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Gene Symbols: TSEN54
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Molecular weight:
58,819 Da
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Basal Isoelectric point:
8.04
Predict pI for various phosphorylation states
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