dyskeratosis congenita 1, dyskerin
| UniProt | Protein Name |
|---|---|
| Q9ESX5 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| snoRNA guided rRNA pseudouridine synthesis | ||
| enzyme-directed rRNA pseudouridine synthesis | ||
| enzyme-directed rRNA pseudouridine synthesis | ||
| box H/ACA RNA 3'-end processing | ||
| telomere maintenance via telomerase |
| GO Term | Evidence Code | PMID |
|---|---|---|
| fibrillar center | ||
| fibrillar center | ||
| nucleus | ||
| nucleoplasm | ||
| telomerase holoenzyme complex |
| GO Term | Evidence Code | PMID |
|---|---|---|
| telomerase activity | ||
| telomerase activity | ||
| RNA binding | ||
| protein binding | ||
| pseudouridine synthase activity |
| Gene Ontology |
|---|
| box H/ACA RNA 3'-end processing |
| mRNA pseudouridine synthesis |
| pseudouridine synthesis |
| rRNA pseudouridine synthesis |
| snRNA pseudouridine synthesis |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:2729 | dyskeratosis congenita |
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100755395 | CRIGR16465 | ||
| 100958566 | OTOGA00980 | ||
| 100993423 | PANPA42406 | ||
| 101045779 | SAIBB38929 | ||
| 101073954 | TAKRU34556 | ||
| 101096046 | FELCA39128 | ||
| 101426743 | DASNO16433 | ||
| 101687615 | MUSPF01843 | ||
| 101939285 | CHRPI14754 | ||
| 102006409 | CHILA24994 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025