Entity Details
| Primary name |
SEN34_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9BSV6 |
| EntryName | SEN34_HUMAN |
| FullName | tRNA-splicing endonuclease subunit Sen34 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 310 |
| SequenceStatus | complete |
| DateCreated | 2004-07-19 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Nucleus |
Domains
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| Domain | Name | Category | Type |
| IPR006676 | tRNA-splicing endonuclease | Family | Family |
| IPR006677 | tRNA intron endonuclease, catalytic domain-like | Domain | Domain |
| IPR011856 | tRNA endonuclease-like domain superfamily | Family | Homologous superfamily |
| IPR016690 | tRNA-splicing endonuclease, SEN34 subunit | Family | Family |
| IPR036167 | tRNA intron endonuclease, catalytic domain-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 612390 | OMIM | Pontocerebellar hypoplasia 2C (PCH2C) | A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions