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    AKT3 AKT serine/threonine kinase 3 [ Homo sapiens (human) ]

    Gene ID: 10000, updated on 12-Sep-2020

    Summary

    Official Symbol
    AKT3provided by HGNC
    Official Full Name
    AKT serine/threonine kinase 3provided by HGNC
    Primary source
    HGNC:HGNC:393
    See related
    Ensembl:ENSG00000117020 MIM:611223
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPPH; PKBG; MPPH2; PRKBG; STK-2; PKB-GAMMA; RAC-gamma; RAC-PK-gamma
    Summary
    The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 16.6), ovary (RPKM 12.6) and 22 other tissues See more
    Orthologs

    Genomic context

    See AKT3 in Genome Data Viewer
    Location:
    1q43-q44
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (243488233..243851079, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (243651535..244014381, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SHH signaling and ciliogenesis regulator SDCCAG8 Neighboring gene FCF1 pseudogene 7 Neighboring gene microRNA 4677 Neighboring gene uncharacterized LOC105373255 Neighboring gene fatty acid binding protein 7 pseudogene 1 Neighboring gene VISTA enhancer hs545 Neighboring gene Sharpr-MPRA regulatory region 14056 Neighboring gene long intergenic non-protein coding RNA 2774 Neighboring gene uncharacterized LOC105373258

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    GeneReviews: Not available
    Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder.
    GeneReviews: Not available
    Genome-wide association study of age at menarche in African-American women.
    GeneReviews: Not available
    Genome-wide meta-analysis for severe diabetic retinopathy.
    GeneReviews: Not available
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
    MedGen: C4014738 OMIM: 615937 GeneReviews: MPPH Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2016-04-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated (2016-04-14)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of IL-6 and IL-8 via the p38 signaling pathway and the PI3K/Akt signaling pathway in astrocytes PubMed
    env HIV-1 gp120 activates AKT, ERK1/2, and p38 signaling in tonsil CD4+ T cells. Soluble CD4 inhibits AKT and ERK1/2 activation, but enhances phosphorylation of p38 PubMed
    env Gp120-mediated activation of caspase-3 is significantly reduced in cells pretreated with PDGF-B. PDGF-mediated protection against gp120 involves the phosphoinositide (PI)3-kinase/Akt pathway PubMed
    env Insulin-like growth factor-I (IGF-I) and erythropoietin treatment protect against HIV/gp120-mediated neuronal damage in culture and in vivo, in part, through cooperative activation of phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling PubMed
    env HIV-1 gp120 induced cell death is inhibited by a CCR5-mediated neuroprotective pathway that involves protein kinase Akt/PKB as an essential component and can be triggered by the CCR5 agonists MIP-1beta and RANTES PubMed
    env CD45 modulates HIV-1 gp120-induced apoptosis by regulating Fas ligand induction and activation of the phosphoinositide 3-kinase/Akt pathway PubMed
    env Fractalkine (CX3CL1) protects hippocampal neurons from the neurotoxicity induced by the HIV-1 envelope protein gp120, and neuronal CX(3)CR1 receptors and Akt activation are responsible for the neuroprotective effects of fractalkine PubMed
    env Pre-treatment of endothelial cells with fibroblast growth factor 2 (FGF2) protects cells from HIV-1 gp120 angiotoxicity; this protection is regulated by crosstalk among the ERK, PI3K-AKT and PKC signaling pathways PubMed
    env HIV-1 gp120 downregulates expression of c-Myc, Max, and 14-3-3epsilon proteins, and decreases phosphorylation of ATP-dependent tyrosine kinases (Akt) at Ser-473 in human mesangial cells (HMC) PubMed
    Nef nef HIV-1 Nef synergizes with KSHV oncoprotein K1 to activate PI3K/AKT/mTOR signaling pathway, and induces cell proliferation and microtubule formation in endothelial cells PubMed
    nef Knockdown of AKT2 and AKT3 by siRNA shows significant reduction of CCL5 levels, suggesting that AKT2 and AKT3 proteins are involved in Nef-mediated upregulation of CCL5 PubMed
    nef HIV-1 Nef induces phosphorylation of MEK1 at position serine 298, which depends on Pak and Rac activity PubMed
    nef HIV-1 Nef synergizes with IL-6 to activate the AKT pathway promoting angiogenesis and tumorigenesis in a chicken chorioallantoic membrane model and nude mice PubMed
    nef HIV-1 Nef synergizes with IL-6 to enhance vascular tube formation, cell proliferation, VEGF expression, and phosphorylated AKT activation in human umbilical vein endothelial cells PubMed
    nef Incubation of human macrophages with exogenous HIV-1 Nef protein induces phosphorylation of Akt and GSK-3ss, and promotes IL-10 release PubMed
    nef HIV-1 Nef decreases levels of AKT phosphorylation in insulin-stimulated adipocytes PubMed
    Tat tat HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins PubMed
    tat Treatment with HIV-Tat and morphine activates extracellular signal-regulated kinase-1/2 (ERK1/2), upregulates p53 and p21 levels, and downregulates cyclin D1 and Akt levels in human fetal brain-derived neural precursor cells PubMed
    tat HIV-1 Tat induces phosphorylation of PI3K, AKT, PTEN, and GSK-3beta activating PI3K and AKT and inactivating PTEN and GSK-3beta in vIL-6 expressing cells PubMed
    tat PI3K/Akt, TRPC, and GSK3beta signaling pathways are all involved in PDGF-C mediated neuroprotection against HIV-1 Tat in human neuroblastoma cells PubMed
    tat HIV-1 Tat activates AKT kinase through activation of PI3 kinase, resulting in the protection of cells from apoptosis PubMed
    tat Lancemaside A1 inhibits the movement of Akt to the plasma membrane, a critical step for Akt activation, and Compound K inhibits Akt phosphorylation in Tat-expressing CHME5 cells PubMed
    tat PDGF-BB-mediated protection against HIV-1 Tat and morphine-induced neuron apoptosis involves Akt activation PubMed
    tat HIV-1 Tat inhibits autophagy in bystander macrophages/monocytic cells through Tat-mediated activation and phosphorylation of Src-Akt signaling PubMed
    tat Phosphatidylinositol 3-kinase/Akt signaling pathway is involved in HIV-1 Tat-induced NADPH oxidase stimulation and LTR transactivation PubMed
    tat A Coumarin derivative BPRHIV001 modulates Tat function through a reduction of the p300 protein level and a concordant reduction of phosphorylated Akt PubMed
    tat Pro-survival effects of intracellular HIV-1 Tat in a microglial cell line is attributed to activation of the PI-3-kinase (PI3K)/Akt pathway via decreasing expression of PTEN, a negative regulator of the PI-3-K pathway PubMed
    tat HIV-1 Tat downregulates CREB transcription factor expression in PC12 neuronal cells through activation of a phosphatidylinositol 3-kinase/AKT/cyclic nucleoside phosphodiesterase pathway PubMed
    Vpr vpr HIV-1 Vpr-induced upregulation of CCL5 requires p50 and p65 subunits of NF-kappaB, p38delta MAPK, Akt-2 and Akt-3, and AP-1 transcription factor in HIV-1 Vpr transfected astrocytes PubMed
    vpr HIV-1 Vpr inhibits Akt-induced cytoplasmic translocation of Foxo3a, a subtype of the forkhead transcription factors PubMed
    matrix gag HIV-1 p17 and its C-terminal truncated form of p17 (p17delta36) differentially regulate Akt phosphorylation by reducing and increasing phosphorylation levels of PTEN, respectively PubMed
    gag HIV-1 p17 induces capillary-like structures in human endothelial cells by binding to CXCR1 and CXCR2, which requires activation of the Akt-dependent ERK signaling pathway PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434N0250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RAC-gamma serine/threonine-protein kinase
    Names
    PKB gamma
    RAC-gamma serine/threonine protein kinase
    v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
    NP_001193658.1
    NP_001357003.1
    NP_005456.1
    NP_859029.1
    XP_011542316.1
    XP_016855474.1
    XP_024301768.1
    XP_024302660.1
    XP_024303706.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029764.2 RefSeqGene

      Range
      5837..356356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1396

    mRNA and Protein(s)

    1. NM_001206729.2NP_001193658.1  RAC-gamma serine/threonine-protein kinase isoform 2

      See identical proteins and their annotated locations for NP_001193658.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (2) is shorter and has has a distinct C-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC096539, AL117525
      Consensus CDS
      CCDS31076.1
      UniProtKB/Swiss-Prot
      Q9Y243
      Related
      ENSP00000355498.1, ENST00000366540.5
      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cd05571
      Location:152451
      STKc_PKB; Catalytic domain of the Serine/Threonine Kinase, Protein Kinase B
    2. NM_001370074.1NP_001357003.1  RAC-gamma serine/threonine-protein kinase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC096539, AL591721, AL592151, AL662889
      Related
      ENSP00000263826.5, ENST00000263826.11
      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cd05593
      Location:132479
      STKc_PKB_gamma; Catalytic domain of the Serine/Threonine Kinase, Protein Kinase B gamma (also called Akt3)
    3. NM_005465.7NP_005456.1  RAC-gamma serine/threonine-protein kinase isoform 1

      See identical proteins and their annotated locations for NP_005456.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC096539, AF135794, AL592151, U79271
      Consensus CDS
      CCDS31077.1
      UniProtKB/Swiss-Prot
      Q9Y243
      Related
      ENSP00000500582.1, ENST00000673466.1
      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cd05593
      Location:132479
      STKc_PKB_gamma; Catalytic domain of the Serine/Threonine Kinase, Protein Kinase B gamma (also called Akt3)
    4. NM_181690.2NP_859029.1  RAC-gamma serine/threonine-protein kinase isoform 2

      See identical proteins and their annotated locations for NP_859029.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (2) is shorter and has has a distinct C-terminus, compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AL591721, AL592151, AY005799, BC121154
      Consensus CDS
      CCDS31076.1
      UniProtKB/Swiss-Prot
      Q9Y243
      Related
      ENSP00000336943.5, ENST00000336199.9
      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cd05571
      Location:152451
      STKc_PKB; Catalytic domain of the Serine/Threonine Kinase, Protein Kinase B

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      243488233..243851079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_016999985.1XP_016855474.1  RAC-gamma serine/threonine-protein kinase isoform X3

      Related
      ENSP00000500597.1, ENST00000672578.1
      Conserved Domains (2) summary
      cd05593
      Location:71418
      STKc_PKB_gamma; Catalytic domain of the Serine/Threonine Kinase, Protein Kinase B gamma (also called Akt3)
      cl17171
      Location:149
      PH-like; Pleckstrin homology-like domain
    2. XM_011544014.2XP_011542316.1  RAC-gamma serine/threonine-protein kinase isoform X5

      See identical proteins and their annotated locations for XP_011542316.1

      Conserved Domains (1) summary
      cl21453
      Location:40249
      PKc_like; Protein Kinases, catalytic domain
    3. XM_024446000.1XP_024301768.1  RAC-gamma serine/threonine-protein kinase isoform X2

      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cl21453
      Location:152435
      PKc_like; Protein Kinases, catalytic domain
    4. XM_024446892.1XP_024302660.1  RAC-gamma serine/threonine-protein kinase isoform X4

      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cl21453
      Location:132273
      PKc_like; Protein Kinases, catalytic domain
    5. XM_024447938.1XP_024303706.1  RAC-gamma serine/threonine-protein kinase isoform X6

      Conserved Domains (2) summary
      cd01241
      Location:4110
      PH_PKB; Protein Kinase B-like pleckstrin homology (PH) domain
      cl21453
      Location:132235
      PKc_like; Protein Kinases, catalytic domain

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187519.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      500341..867542 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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