AKTIP

AKT-interacting protein is a protein that in humans is encoded by the AKTIP gene.^[5][6][7]

AKTIP
Identifiers
Aliases	AKTIP, FT1, FTS, AKT interacting protein
External IDs	OMIM: 608483; MGI: 3693832; HomoloGene: 7721; GeneCards: AKTIP; OMA:AKTIP - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.2 Start 53,491,040 bp[1] End 53,504,411 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C4|8 44.25 cM Start 91,838,412 bp[2] End 91,926,604 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte pons muscle of thigh C1 segment amniotic fluid prefrontal cortex amygdala substantia nigra anterior cingulate cortex vastus lateralis muscle Top expressed in right kidney medial vestibular nucleus deep cerebellar nuclei neural layer of retina globus pallidus central gray substance of midbrain superior frontal gyrus lateral hypothalamus dorsomedial hypothalamic nucleus cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin-like protein transferase activity protein binding ubiquitin protein ligase binding ubiquitin protein ligase activity Cellular component HOPS complex plasma membrane membrane FHF complex cytosol cytoplasm Biological process protein transport positive regulation of protein binding positive regulation of protein phosphorylation lysosome organization early endosome to late endosome transport endosome organization endosome to lysosome transport apoptotic process protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64400 14339 Ensembl ENSG00000166971 ENSMUSG00000031667 UniProt Q9H8T0 Q64362 RefSeq (mRNA) NM_001012398 NM_001308325 NM_022476 NM_010241 NM_001302266 NM_001302267 NM_001302268 NM_001302337 NM_001358934 NM_001358935 NM_001358936 NM_001358937 NM_001358938 RefSeq (protein) NP_001012398 NP_001295254 NP_071921 NP_001289195 NP_001289196 NP_001289197 NP_001289266 NP_034371 NP_001345863 NP_001345864 NP_001345865 NP_001345866 NP_001345867 Location (UCSC) Chr 16: 53.49 – 53.5 Mb Chr 8: 91.84 – 91.93 Mb PubMed search [3] [4]
Wikidata
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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.^[7]

Interactions

AKTIP has been shown to interact with AKT1.^[8]

Molecular genetics

The association between the AKTIP gene variants in a sample of 273 bipolar patients using 3 single-nucleotide polymorphisms has been investigated. No association between suicidal behavior and AKTIP variants nor any interaction between AKTIP and AKT1 polymorphisms was observed.^[9]