TSEN54 (gene)

TRNA splicing endonuclease subunit 54 is a protein that in humans is encoded by the TSEN54 gene. ^[5]

TSEN54
Identifiers
Aliases	TSEN54, PCH2A, PCH4, SEN54L, sen54, PCH5, tRNA splicing endonuclease subunit 54
External IDs	OMIM: 608755; MGI: 1923515; HomoloGene: 35476; GeneCards: TSEN54; OMA:TSEN54 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.1 Start 75,515,944 bp[1] End 75,524,735 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 115,705,550 bp[2] End 115,713,920 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte right uterine tube cerebellar hemisphere right hemisphere of cerebellum skin of arm mucosa of transverse colon body of pancreas pylorus cardia right lobe of thyroid gland Top expressed in yolk sac right kidney embryo neural layer of retina epiblast otic vesicle proximal tubule embryo lip muscle of thigh More reference expression data BioGPS n/a
Gene ontology Molecular function tRNA-intron endonuclease activity protein binding Cellular component nucleolus nucleus tRNA-intron endonuclease complex nucleoplasm Biological process mRNA processing tRNA-type intron splice site recognition and cleavage RNA phosphodiester bond hydrolysis, endonucleolytic tRNA splicing, via endonucleolytic cleavage and ligation RNA phosphodiester bond hydrolysis tRNA processing Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 283989 76265 Ensembl ENSG00000182173 ENSMUSG00000020781 UniProt Q7Z6J9 Q8C2A2 RefSeq (mRNA) NM_207346 NM_029557 RefSeq (protein) NP_997229 NP_083833 Location (UCSC) Chr 17: 75.52 – 75.52 Mb Chr 11: 115.71 – 115.71 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing.

Clinical significance

Mutations in this gene result in pontocerebellar hypoplasia type 2. Sepahvand et al. declared that due to the greatly overlapped phenotypes with well‐described types of PCH, e.g. PCH2, PCH4, and PCH5, "TSENopathies" term should be used which encompasses all described phenotypes of PCHs.^[6] They also reported an infratentorial chronic subdural hematoma was detected next to the Galen vein that had been developed in the line of anterior flax, supra‐ and infratentorial atrophy, hypoplasia of the pons, cerebellum and corpus callosum, delayed cerebral myelination and gray and white matter volume loss, absent folding of the olivary nucleus, and loss of transverse fibers of the pons. An extra-axial CSF space was also evident due to brain atrophy. Two novel phenotype was also reported by Sepahvand et al. as structural heart diseases including a large patent foramen ovale (>23 microbubbles), patent ductus arteriosus, and mild tricuspid and mitral valve regurgitations, and a bilaterally moderate sensorineural hearing loss.^[6]