iPTMnet Report for O95278 (EPM2A)
Protein Information
| UniProt AC / UniProt ID | O95278 / EPM2A_HUMAN |
| Protein Name | Laforin |
| Gene Name | Name: EPM2A |
| Organism | Homo sapiens (Human) |
| PRO ID | PR:O95278 |
| PRO Name | laforin isoforms 1/2/4/5/6/7/8 (human) |
| Definition | A laforin (human), isoforms 1, 2, 4, 5, 6, 7, and 8. |
| Short Label | hEPM2A/iso:[1/2/4/5/6/7/8] |
| Category | organism-seqgroup |
DAG ViewO95278 (EPM2A) as Substrate
 |
Site | PTM Type | PTM Enzyme | Score | Source | PMID |
|---|---|---|---|---|---|---|
| Ubiquitination | score1 | PRO | ||||
| S25 | Phosphorylation | Q13131 (PRKAA1) | score3 | PhosphoSitePlus RLIMS-P UniProt | 21728993 | |
| Y304 | Phosphorylation | score1 | PhosphoSitePlus | |||
| K320 | Ubiquitination | score1 | PhosphoSitePlus | |||
| R325 | Methylation | score1 | PhosphoSitePlus |
|
Site | PTM Type | PTM Enzyme | Score | Source | PMID |
|---|---|---|---|---|---|---|
| S147 | Phosphorylation | score1 | PhosphoSitePlus |
PTM sites affected in variants
| Site | Variant | Source | PMID | Disease [Sample source] |
|---|---|---|---|---|
| R325 | H325 | Biomuta | DOID:9253 / gastrointestinal stromal tumor [ cosmic ] | |
| R325 | C325 | Biomuta | DOID:4159 / skin cancer [ cosmic, icgc ] |
