AKTIP

Chr 16

AKT interacting protein

Also known as: FT1, FTS

NCBI Gene: 64400 ENSG00000166971 UniProt: Q9H8T0

The protein is a component of the FTS/Hook/FHIP complex that promotes vesicle trafficking and fusion, and also regulates apoptosis by enhancing AKT1 phosphorylation and activation. Mutations in AKTIP cause autosomal recessive developmental disorders affecting multiple systems including limb development and immune function. The gene shows significant constraint against loss-of-function variants (LOEUF 0.504), suggesting that biallelic mutations are required for disease manifestation.

ResearchSummary from RefSeq, UniProt

The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.50

LOEUF

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Mechanism

Some data sources returned errors (1)

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