Description: Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 3, mRNA. RefSeq Summary (NM_001014431): This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]. Transcript (Including UTRs) Position: hg19 chr14:105,235,687-105,238,058 Size: 2,372 Total Exon Count: 2 Strand: -
methamphetamine abuse Ikeda, M. et al. 2005, Positive association of AKT1 haplotype to Japanese methamphetamine use disorder., The international journal of neuropsychopharmacology. 2006 Feb;9(1):77-81.
[PubMed 15982448]
schizophrenia Ikeda, M. et al. 2004, Association of AKT1 with schizophrenia confirmed in a Japanese population., Biological psychiatry. 2004 Nov;56(9):698-700.
[PubMed 15522255]
Our study provides support for the theory that AKT1 is a susceptibility gene for Japanese schizophrenia. Fine linkage disequilibrium mapping is required for a conclusive result.
schizophrenia Emamian ES 2004, Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia., Nature genetics. 2004 Feb;36(2):131-7.
[PubMed 14745448]
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
BX648205 - Homo sapiens mRNA; cDNA DKFZp686K13249 (from clone DKFZp686K13249). FW399331 - NUCLEIC ACID COMPOUNDS FOR INHIBITING AKT GENE EXPRESSION AND USES THEREOF. BC000479 - Homo sapiens v-akt murine thymoma viral oncogene homolog 1, mRNA (cDNA clone MGC:8686 IMAGE:2964603), complete cds. BC084538 - Homo sapiens v-akt murine thymoma viral oncogene homolog 1, mRNA (cDNA clone MGC:99656 IMAGE:6645486), complete cds. FW399332 - NUCLEIC ACID COMPOUNDS FOR INHIBITING AKT GENE EXPRESSION AND USES THEREOF. FW399333 - NUCLEIC ACID COMPOUNDS FOR INHIBITING AKT GENE EXPRESSION AND USES THEREOF. AK122894 - Homo sapiens cDNA FLJ16549 fis, clone PLACE7003657, highly similar to RAC-alpha serine/threonine-protein kinase (EC 2.7.11.1). M63167 - Human rac protein kinase alpha mRNA, complete cds. EU832491 - Synthetic construct Homo sapiens clone HAIB:100067520; DKFZo008E0929 v-akt murine thymoma viral oncogene homolog 1 protein (AKT1) gene, encodes complete protein. EU832571 - Synthetic construct Homo sapiens clone HAIB:100067600; DKFZo004E0930 v-akt murine thymoma viral oncogene homolog 1 protein (AKT1) gene, encodes complete protein. AK314256 - Homo sapiens cDNA, FLJ95003, Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1),mRNA. KJ890652 - Synthetic construct Homo sapiens clone ccsbBroadEn_00046 AKT1 gene, encodes complete protein. KJ905141 - Synthetic construct Homo sapiens clone ccsbBroadEn_14538 AKT1 gene, encodes complete protein. KR710120 - Synthetic construct Homo sapiens clone CCSBHm_00009883 AKT1 (AKT1) mRNA, encodes complete protein. AB451242 - Homo sapiens AKT1 mRNA for v-akt murine thymoma viral oncogene homolog 1, complete cds, clone: FLJ08041AAAN. AB451367 - Homo sapiens AKT1 mRNA for v-akt murine thymoma viral oncogene homolog 1, partial cds, clone: FLJ08041AAAF. KU177898 - Homo sapiens v-akt murine thymoma viral oncogene-like protein 1 isoform 1 (AKT1) mRNA, partial cds. KU177899 - Homo sapiens v-akt murine thymoma viral oncogene-like protein 1 isoform 2 (AKT1) mRNA, complete cds, alternatively spliced. AB463340 - Synthetic construct DNA, clone: pF1KB5680, Homo sapiens AKT1 gene for v-akt murine thymoma viral oncogene homolog 1, without stop codon, in Flexi system. BC001737 - Homo sapiens, clone IMAGE:3354010, mRNA, partial cds. AK094287 - Homo sapiens cDNA FLJ36968 fis, clone BRACE2006105. AK131465 - Homo sapiens cDNA FLJ16631 fis, clone TESTI4021482. AK127193 - Homo sapiens cDNA FLJ45258 fis, clone BRHIP2019884, highly similar to RAC-alpha serine/threonine-protein kinase (EC 2.7.11.1). JD329707 - Sequence 310731 from Patent EP1572962. JD402074 - Sequence 383098 from Patent EP1572962. JD099210 - Sequence 80234 from Patent EP1572962. JD073445 - Sequence 54469 from Patent EP1572962. JD482375 - Sequence 463399 from Patent EP1572962. JD249208 - Sequence 230232 from Patent EP1572962. JD226294 - Sequence 207318 from Patent EP1572962. JD449304 - Sequence 430328 from Patent EP1572962. JD307821 - Sequence 288845 from Patent EP1572962. AK299310 - Homo sapiens cDNA FLJ53606 complete cds, highly similar to RAC-alpha serine/threonine-protein kinase (EC 2.7.11.1). JD498438 - Sequence 479462 from Patent EP1572962. JD076408 - Sequence 57432 from Patent EP1572962. JD462696 - Sequence 443720 from Patent EP1572962. X61037 - H.sapiens mRNA for protein kinase B. BX647722 - Homo sapiens mRNA; cDNA DKFZp686M0424 (from clone DKFZp686M0424).
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04010 - MAPK signaling pathway hsa04012 - ErbB signaling pathway hsa04062 - Chemokine signaling pathway hsa04150 - mTOR signaling pathway hsa04210 - Apoptosis hsa04370 - VEGF signaling pathway hsa04510 - Focal adhesion hsa04530 - Tight junction hsa04620 - Toll-like receptor signaling pathway hsa04630 - Jak-STAT signaling pathway hsa04660 - T cell receptor signaling pathway hsa04662 - B cell receptor signaling pathway hsa04664 - Fc epsilon RI signaling pathway hsa04666 - Fc gamma R-mediated phagocytosis hsa04722 - Neurotrophin signaling pathway hsa04910 - Insulin signaling pathway hsa04914 - Progesterone-mediated oocyte maturation hsa04920 - Adipocytokine signaling pathway hsa05142 - Chagas disease hsa05200 - Pathways in cancer hsa05210 - Colorectal cancer hsa05211 - Renal cell carcinoma hsa05212 - Pancreatic cancer hsa05213 - Endometrial cancer hsa05214 - Glioma hsa05215 - Prostate cancer hsa05218 - Melanoma hsa05220 - Chronic myeloid leukemia hsa05221 - Acute myeloid leukemia hsa05222 - Small cell lung cancer hsa05223 - Non-small cell lung cancer
BioCarta from NCI Cancer Genome Anatomy Project h_aktPathway - AKT Signaling Pathway h_chemicalPathway - Apoptotic Signaling in Response to DNA Damage h_hdacPathway - Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) h_mTORPathway - mTOR Signaling Pathway h_nfatPathway - NFAT and Hypertrophy of the heart (Transcription in the broken heart) h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway h_il4Pathway - IL 4 signaling pathway h_telPathway - Telomeres, Telomerase, Cellular Aging, and Immortality h_gsk3Pathway - Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages h_trkaPathway - Trka Receptor Signaling Pathway h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis h_erk5Pathway - Role of Erk5 in Neuronal Survival h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition h_edg1Pathway - Phospholipids as signalling intermediaries h_no1Pathway - Actions of Nitric Oxide in the Heart h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system h_plcPathway - Phospholipase C Signaling Pathway h_bcellsurvivalPathway - B Cell Survival Pathway h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase h_hcmvPathway - Human Cytomegalovirus and Map Kinase Pathways h_igf1rPathway - Multiple antiapoptotic pathways from IGF-1R signaling lead to BAD phosphorylation h_rasPathway - Ras Signaling Pathway h_crebPathway - Transcription factor CREB and its extracellular signals h_gcrPathway - Corticosteroids and cardioprotection h_longevityPathway - The IGF-1 Receptor and Longevity h_ptenPathway - PTEN dependent cell cycle arrest and apoptosis h_tffPathway - Trefoil Factors Initiate Mucosal Healing h_badPathway - Regulation of BAD phosphorylation h_gleevecpathway - Inhibition of Cellular Proliferation by Gleevec h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation h_ptdinsPathway - Phosphoinositides and their downstream targets.