Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle (PubMed:18485873). The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:18485873). The APC/C complex catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132).
Rothmund-Thomson syndrome 1
RTS1
A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS1 is an autosomal recessive form not associated with an increased risk of cancer.
None
The disease is caused by variants affecting the gene represented in this entry.
Protein modification; protein ubiquitination.
Phosphorylated. Phosphorylation on Ser-355 occurs specifically during mitosis.
Belongs to the APC1 family.
TSG24, ANAPC1, Anaphase-promoting complex subunit 1, APC1, Cyclosome subunit 1, Mitotic checkpoint regulator, Testis-specific gene 24 protein
Proteins
Oncology
216500Da
We found 1 product in 1 category