iPTMnet Report for Q30201 (HFE)
Protein Information
UniProt AC / UniProt ID | Q30201 / HFE_HUMAN |
Protein Name | Hereditary hemochromatosis protein precursor |
Gene Name | Name: HFE Synonyms:HLAH; |
Organism | Homo sapiens (Human) |
PRO ID | PR:Q30201 |
PRO Name | hereditary hemochromatosis protein (human) |
Definition | A hereditary hemochromatosis protein that is encoded in the genome of human. |
Short Label | hHFE |
Category | organism-gene |
Q30201 (HFE) as Substrate
Site | PTM Type | PTM Enzyme | Score | Source | PMID | |
---|---|---|---|---|---|---|
T17 | Phosphorylation | score1 | PhosphoSitePlus | |||
N110 | N-Glycosylation | score2 | GlyGen | 20618438 | ||
N130 | N-Glycosylation | score2 | GlyGen | 20618438 | ||
K166 | Ubiquitination | score1 | PhosphoSitePlus | |||
N234 | N-Glycosylation | score3 | GlyGen | 20618438, 24190977 | ||
Y342 | Phosphorylation | score1 | PhosphoSitePlus |
PTM sites affected in variants
Site | Variant | Source | PMID | Disease [Sample source] |
---|---|---|---|---|
Y342 | H342 | Biomuta | DOID:4159 / skin cancer [ cosmic, icgc ] |