Gene Gene information from NCBI Gene database.
Entrez ID 116461
Gene name TRNA splicing endonuclease subunit 15
Gene symbol TSEN15
Synonyms (NCBI Gene)
C1orf19PCH2Fsen15
Chromosome 1
Chromosome location 1q25.3
Summary This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by Ref
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs730882223 T>G Likely-pathogenic, pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs879253779 A>G Pathogenic Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs879253780 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
254
miRTarBase ID miRNA Experiments Reference
MIRT052033 hsa-let-7b-5p CLASH 23622248
MIRT044997 hsa-miR-186-5p CLASH 23622248
MIRT1458384 hsa-miR-1208 CLIP-seq
MIRT1458385 hsa-miR-1243 CLIP-seq
MIRT1458386 hsa-miR-150 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608756 16791 ENSG00000198860
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WW01
Protein name tRNA-splicing endonuclease subunit Sen15 (SEN15 homolog) (HsSEN15) (tRNA-intron endonuclease Sen15)
Protein function 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
PDB 2GW6 , 6Z9U , 7UXA , 7ZRZ , 8HMY , 8HMZ , 8ISS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09631 Sen15 65 166 Sen15 protein Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis and uterus. {ECO:0000269|PubMed:11318611}.
Sequence
MEERGDSEPTPGCSGLGPGGVRGFGDGGGAPSWAPEDAWMGTHPKYLEMMELDIGDATQV
YVAFLVYLDLMESKSWHEVNCVGLPELQLICLVGTEIEGEGLQTVVPTPITASLSHNRIR
EILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFMLPDPQN
ISLRR
Sequence length 171
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    tRNA processing in the nucleus
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pontocerebellar hypoplasia, type 2F Pathogenic; Likely pathogenic rs879253779, rs879253780 RCV000234975
RCV000234984
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Uncertain significance rs730882223 RCV000162135
Primary microcephaly Uncertain significance rs730882223 RCV000162135
Seizure Uncertain significance rs730882223 RCV000162135
TSEN15-related disorder Likely benign rs199604629, rs138058406, rs1373388521 RCV003974214
RCV003951986
RCV003921946
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 24944287
Developmental Disabilities Associate 27392077
Epilepsy Associate 27392077
Growth Disorders Associate 28744006
Intellectual Disability Associate 27392077
Microcephaly Associate 27392077
Osteoarthritis Associate 37208701
Pontocerebellar Hypoplasia Associate 27392077
Pontocerebellar Hypoplasia Type 2A Associate 27392077