Human Gene AKT1 (uc001ypj.3)
  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: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:105,235,687-105,238,058)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkH-INVHGNC
LynxMalacardsPubMedWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AKT1
CDC HuGE Published Literature: AKT1
Positive Disease Associations: methamphetamine abuse , schizophrenia
Related Studies:
  1. 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]
  2. 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.
  3. schizophrenia
    Emamian ES 2004, Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia., Nature genetics. 2004 Feb;36(2):131-7. [PubMed 14745448]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AKT1
Diseases sorted by gene-association score: cowden syndrome 6* (1329), proteus syndrome, somatic* (1266), ovarian cancer, somatic* (233), breast cancer* (223), cowden disease* (159), colorectal cancer* (107), thymoma (48), ductal carcinoma in situ (32), schizophrenia* (16), serous cystadenocarcinoma (12), adenocarcinoma (12), renal cell carcinoma (10), hidradenoma (10), insulin-like growth factor i (10), cystadenocarcinoma (9), prostate cancer (9), pancreatic ductal adenocarcinoma (9), pancreatic cancer (8), apical myocardial infarction (8), brain cancer (8), glioblastoma multiforme (8), leopard syndrome (8), hepatopulmonary syndrome (7), colitis (7), salivary gland cancer (7), tuberous sclerosis (7), hepatocellular carcinoma (7), anal squamous cell carcinoma (7), oral squamous cell carcinoma (6), male reproductive organ cancer (6), endometrial cancer (6), estrogen-receptor positive breast cancer (6), macroglobulinemia (6), ovarian serous cystadenocarcinoma (6), primary effusion lymphoma (6), female reproductive organ cancer (5), reproductive organ cancer (5), lung cancer (5), gastrointestinal system cancer (5), kaposi sarcoma (5), mitral valve disease (5), pleural cancer (5), cell type cancer (5), malignant ovarian surface epithelial-stromal neoplasm (5), peripheral nervous system neoplasm (4), autonomic nervous system neoplasm (4), ovary epithelial cancer (4), pancreas adenocarcinoma (4), pharynx cancer (4), testicular germ cell tumor (4), huntington disease (4), kidney cancer (4), ulcerative colitis (4), wiskott-aldrich syndrome (4), astrocytoma (3), mantle cell lymphoma (3), psychotic disorder (3), esophageal cancer (3), gastrointestinal stromal tumor (2), multiple myeloma (2), medulloblastoma (2), glucose metabolism disease (2), acquired metabolic disease (2), diabetes mellitus, noninsulin-dependent (2), nervous system cancer (1), endocrine gland cancer (1), neuroblastoma (1), toxic encephalopathy (1), connective tissue cancer (1), diabetes mellitus, insulin-dependent (1), integumentary system cancer (1), stroke, ischemic (1), macular degeneration, age-related, 1 (1), parkinson disease, late-onset (1), leukemia, acute myeloid (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.70 RPKM in Adrenal Gland
Total median expression: 1544.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo 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.

-  Other Names for This Gene
  Alternate Gene Symbols: AK094287
UCSC ID: uc001ypj.3
RefSeq Accession: NM_001014431

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AKT1:
proteus (Proteus Syndrome)

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AK094287.1
exon count: 2CDS single in 3' UTR: no RNA size: 2046
ORF size: 0CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 397.50frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.