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 |
O95278 (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 ] |