CAND1

Chr 12

cullin associated and neddylation dissociated 1

Also known as: TIP120, TIP120A

NCBI Gene: 55832 ENSG00000111530 UniProt: Q86VP6 OMIM: 607727

The protein encoded by this gene is an essential regulator that promotes the exchange of F-box subunits in SCF ubiquitin ligase complexes, controlling which proteins are targeted for degradation by the cellular protein machinery. This gene is extremely intolerant to loss-of-function mutations based on population data, but specific disease associations and inheritance patterns have not yet been established in clinical practice. Mutations in this highly constrained gene would be expected to cause significant developmental abnormalities if identified in patients.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted