AKTIP

AKTIP
Identifiers
Aliases	AKTIP , FT1, FTS, AKT interacting protein
External IDs	OMIM: 608483 MGI: 3693832 HomoloGene: 7721 GeneCards: AKTIP
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 amniotic fluid prefrontal cortex amygdala substantia nigra vastus lateralis muscle dorsolateral prefrontal cortex hypothalamus Brodmann area 9 Top expressed in medial vestibular nucleus globus pallidus superior frontal gyrus lateral hypothalamus dorsomedial hypothalamic nucleus cerebellar cortex ventral tegmental area pontine nuclei dorsal tegmental nucleus paraventricular nucleus of hypothalamus 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
View/Edit Human View/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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000166971 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031667 - Ensembl, 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. "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.

External links

• Human AKTIP genome location and AKTIP gene details page in the UCSC Genome Browser .

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Lesche R, Peetz A, van der Hoeven F, Rüther U (1998). "Ft1, a novel gene related to ubiquitin-conjugating enzymes, is deleted in the Fused toes mouse mutation". Mamm. Genome. 8 (12): 879–83. doi:10.1007/s003359900604. PMID   9383278. S2CID   10988499.
• Lesche R, Rüther U (1998). "Close linkage of p130 and Ft1 is conserved among mammals". Mamm. Genome. 9 (3): 253–5. doi:10.1007/s003359900737. PMID   9501314. S2CID   34220560.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Remy I, Michnick SW (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. PMC   344167 . PMID   14749367.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl: 11858/00-001M-0000-0010-8592-0 . PMID   16169070. S2CID   8235923.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.