Aliases for AKTIP Gene
External Ids for AKTIP Gene
Previous HGNC Symbols for AKTIP Gene
Previous GeneCards Identifiers for AKTIP Gene
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]
GeneCards Summary for AKTIP Gene
AKTIP (AKT Interacting Protein) is a Protein Coding gene. Diseases associated with AKTIP include Plantar Fascial Fibromatosis and Nodular Tenosynovitis. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and AKT Signaling Pathway. Gene Ontology (GO) annotations related to this gene include ubiquitin protein ligase binding and acid-amino acid ligase activity. An important paralog of this gene is UBE2O.
UniProtKB/Swiss-Prot Summary for AKTIP Gene
Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Regulates apoptosis by enhancing phosphorylation and activation of AKT1. Increases release of TNFSF6 via the AKT1/GSK3B/NFATC1 signaling cascade.