FBXO31
Developmental stage
Expression is cell-cycle regulated, and peaks at late G2 to early G1 phase (at protein level).
Function
Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in G1 arrest following DNA damage. Specifically recognizes phosphorylated cyclin-D1 (CCND1), promoting its ubiquitination and degradation by the proteasome, resulting in G1 arrest. May act as a tumor suppressor.
Involvement in disease
Intellectual developmental disorder, autosomal recessive 45
MRT45
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT45 manifestations include mild to moderate intellectual disability and dysmorphic features, including coarse facies, broad nasal bridge, fleshy nares, and thick, prominent lips.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
Phosphorylation at Ser-278 by ATM following gamma-irradiation results in its stabilization.
Sequence Similarities
Belongs to the FBXO31 family.
Tissue Specificity
Highly expressed in brain. Expressed at moderate levels in most tissues, except bone marrow.
Alternative names
FBX14, FBX31, PP2386, FBXO31, F-box only protein 31