Description: Homo sapiens tRNA splicing endonuclease 34 homolog (S. cerevisiae) (TSEN34), transcript variant 2, mRNA. RefSeq Summary (NM_001077446): 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]. Transcript (Including UTRs) Position: hg19 chr19:54,695,104-54,698,394 Size: 3,291 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr19:54,695,216-54,697,217 Size: 2,002 Coding Exon Count: 4
ID:SEN34_HUMAN DESCRIPTION: RecName: Full=tRNA-splicing endonuclease subunit Sen34; EC=3.1.27.9; AltName: Full=Leukocyte receptor cluster member 5; AltName: Full=tRNA-intron endonuclease Sen34; Short=HsSen34; 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. 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. CATALYTIC ACTIVITY: Endonucleolytic cleavage of pre-tRNA, producing 5'-hydroxy and 2',3'-cyclic phosphate termini, and specifically removing the intron. SUBUNIT: tRNA splicing endonuclease is a heterotetramer composed of SEN2, SEN15, SEN34/LENG5 and SEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3'-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2. SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus. Note=May be transiently localized in the nucleolus. DISEASE: Defects in TSEN34 are the cause of pontocerebellar hypoplasia type 2C (PCH2C) [MIM:612390]. 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. MISCELLANEOUS: Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4. SIMILARITY: Belongs to the tRNA-intron endonuclease family. SEQUENCE CAUTION: Sequence=BAB15284.1; Type=Erroneous termination; Positions=311; Note=Translated as stop;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BSV6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
