C10orf90
Description
The C10ORF90 (chromosome 10 open reading frame 90) is a protein-coding gene located on chromosome 10.
C10ORF90, also known as FATS, is a tumor suppressor protein involved in sustaining the G2/M checkpoint after DNA damage. It acts as a p53 activator by blocking the interaction between MDM2 and p53, promoting non-proteolytic polyubiquitination of p53. C10ORF90 exhibits E3 ubiquitin ligase activity, forming ubiquitin chains independent of E2 enzymes. It facilitates the transcription of CDKN1A/p21, a key cell cycle regulator, by p53, leading to a robust checkpoint response. Furthermore, C10ORF90 stabilizes CDKN1A/p21 protein through a ubiquitin-independent mechanism. By interacting with HDAC1, C10ORF90 prevents HDAC1 binding to CDKN1A/p21, enhancing the acetylation and stabilization of CDKN1A/p21. C10ORF90 may play a role in primary cilia assembly.
C10ORF90 is also known as FATS, bA422P15.2.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- dimethylglycine dehydrogenase deficiency
- histidinemia
- metabolic myopathy due to lactate transporter defect
- hypouricemia, renal, 2
- hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
- nephrogenic syndrome of inappropriate antidiuresis
- ocular cystinosis
- ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- saccharopinuria
