FBXO31 gene

F-box protein 31

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

From UniProt:

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.

From NCBI Gene:

  • Mental retardation, autosomal recessive 45

From UniProt:

Mental retardation, 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. [MIM:615979]

Cytogenetic Location: 16q24.2, which is the long (q) arm of chromosome 16 at position 24.2

Molecular Location: base pairs 87,326,987 to 87,392,107 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q24.2, which is the long (q) arm of chromosome 16 at position 24.2
  • FBX14
  • Fbx31
  • FBXO14
  • MRT45
  • pp2386