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AKTIP

From Wikipedia, the free encyclopedia
AKTIP
Identifiers
AliasesAKTIP, FT1, FTS, AKT interacting protein
External IDsOMIM: 608483; MGI: 3693832; HomoloGene: 7721; GeneCards: AKTIP; OMA:AKTIP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001012398
NM_001308325
NM_022476

RefSeq (protein)

NP_001012398
NP_001295254
NP_071921

Location (UCSC)Chr 16: 53.49 – 53.5 MbChr 8: 91.84 – 91.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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

Molecular genetics

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166971Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031667Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Fluhmann B, Muff R, Hunziker W, Fischer JA, Born W (Feb 1995). "A human orphan calcitonin receptor-like structure". Biochem Biophys Res Commun. 206 (1): 341–7. doi:10.1006/bbrc.1995.1047. PMID 7818539.
  6. ^ Aiyar N, Rand K, Elshourbagy NA, Zeng Z, Adamou JE, Bergsma DJ, Li Y (Jun 1996). "A cDNA encoding the calcitonin gene-related peptide type 1 receptor". J Biol Chem. 271 (19): 11325–9. doi:10.1074/jbc.271.19.11325. PMID 8626685.
  7. ^ a b "Entrez Gene: AKTIP AKT interacting protein".
  8. ^ Remy, Ingrid; Michnick Stephen W (Feb 2004). "Regulation of apoptosis by the Ft1 protein, a new modulator of protein kinase B/Akt". Mol. Cell. Biol. 24 (4): 1493–504. doi:10.1128/MCB.24.4.1493-1504.2004. ISSN 0270-7306. PMC 344167. PMID 14749367.
  9. ^ Magno LA, Miranda DM, Neves FS, Pimenta GJ, Mello MP, De Marco LA, Correa H, Romano-Silva MA (January 2010). "Association between AKT1 but not AKTIP genetic variants and increased risk for suicidal behavior in bipolar patients". Genes Brain Behav. 9 (4): 411–8. doi:10.1111/j.1601-183X.2010.00571.x. PMID 20132317. S2CID 36267195.
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Further reading

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