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    MTOR mechanistic target of rapamycin kinase [ Homo sapiens (human) ]

    Gene ID: 2475, updated on 27-Dec-2024

    Summary

    Official Symbol
    MTORprovided by HGNC
    Official Full Name
    mechanistic target of rapamycin kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:3942
    See related
    Ensembl:ENSG00000198793 MIM:601231; AllianceGenome:HGNC:3942
    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
    SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1
    Summary
    The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
    Expression
    Broad expression in testis (RPKM 23.6), brain (RPKM 8.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MTOR in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11106535..11262551, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (10648106..10804142, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11166592..11322608, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 163 Neighboring gene exosome component 10 Neighboring gene spermidine synthase Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11152350-11152530 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11159092-11159654 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11159655-11160215 Neighboring gene EXOSC10 antisense RNA 1 Neighboring gene MTOR antisense RNA 1 Neighboring gene RNA, U6 small nuclear 537, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr1:11237905-11238443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11249765-11250265 Neighboring gene MPRA-validated peak73 silencer Neighboring gene angiopoietin like 7 Neighboring gene RNA, U6 small nuclear 291, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:11301605-11302164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11308472-11309038 Neighboring gene ribosomal protein L39 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 167 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11349216-11349398 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 3 Neighboring gene UbiA prenyltransferase domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11365397-11366222 Neighboring gene uncharacterized LOC105376737

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (825 hits/1298 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.
    EBI GWAS Catalog
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Syncytia arising from the fusion of cells expressing HIV-1 gp120 with cells expressing the CD4/CXCR4 complex causes phosphorylation of p53, which is mediated by the upregulation of mammalian target of FKBP12-rapamycin-associated protein (FRAP) 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
    Tat tat HIV-1 Tat induces phosphorylation of mTOR in Tat-expressing cells and HIV-1-infected cells PubMed
    capsid gag Treatment with Torin 1, mTOR kinase inhibitor, significantly downregulates HIV-1 p24 levels in HIV-1-infected primary CD4+ T cells, Jurkat cells, and MOLT-X4 cells, suggesting mTOR kinase regulates HIV-1 production PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ44809

    Gene Ontology Provided by GOA

    Items 1 - 25 of 37
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA-dependent protein kinase activity  
    enables RNA polymerase III type 1 promoter sequence-specific DNA binding PubMed 
    enables RNA polymerase III type 2 promoter sequence-specific DNA binding PubMed 
    enables RNA polymerase III type 3 promoter sequence-specific DNA binding PubMed 
    enables Rho-dependent protein serine/threonine kinase activity  
    enables TFIIIC-class transcription factor complex binding PubMed 
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables identical protein binding PubMed 
    enables inositol hexakisphosphate binding PubMed 
    enables phosphoprotein binding PubMed 
    enables protein binding PubMed 
    enables protein kinase activity PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity PubMed 
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity PubMed 
    enables protein serine/threonine kinase activity  
    enables protein tyrosine kinase activity PubMed 
    enables ribosomal protein S6 kinase activity  
    enables ribosome binding PubMed 
    Items 1 - 25 of 37
    Items 1 - 25 of 93
    Process Evidence Code Pubs
    involved_in 'de novo' pyrimidine nucleobase biosynthetic process  
    involved_in DNA damage response PubMed 
    involved_in T cell costimulation  
    involved_in T-helper 1 cell lineage commitment  
    involved_in TOR signaling PubMed 
    involved_in TOR signaling PubMed 
    involved_in TORC1 signaling  
    involved_in TORC1 signaling PubMed 
    involved_in TORC1 signaling PubMed 
    involved_in TORC2 signaling PubMed 
    involved_in anoikis PubMed 
    involved_in behavioral response to pain  
    involved_in calcineurin-NFAT signaling cascade  
    involved_in cardiac muscle cell development  
    involved_in cardiac muscle contraction  
    involved_in cellular response to L-leucine PubMed 
    involved_in cellular response to amino acid starvation PubMed 
    involved_in cellular response to amino acid stimulus PubMed 
    involved_in cellular response to hypoxia  
    involved_in cellular response to hypoxia PubMed 
    involved_in cellular response to insulin stimulus PubMed 
    involved_in cellular response to leucine starvation PubMed 
    involved_in cellular response to methionine PubMed 
    involved_in cellular response to nutrient PubMed 
    involved_in cellular response to nutrient levels PubMed 
    involved_in cellular response to nutrient levels  
    involved_in cellular response to nutrient levels PubMed 
    involved_in cellular response to osmotic stress PubMed 
    involved_in cellular response to starvation PubMed 
    involved_in chromatin remodeling  
    involved_in cytoskeleton organization PubMed 
    involved_in energy reserve metabolic process  
    involved_in germ cell development  
    involved_in heart morphogenesis  
    involved_in heart valve morphogenesis  
    involved_in inflammatory response  
    involved_in macroautophagy  
    involved_in multicellular organism growth  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of autophagy PubMed 
    involved_in negative regulation of autophagy PubMed 
    involved_in negative regulation of autophagy  
    involved_in negative regulation of autophagy PubMed 
    involved_in negative regulation of calcineurin-NFAT signaling cascade  
    involved_in negative regulation of cell size  
    involved_in negative regulation of lysosome organization PubMed 
    involved_in negative regulation of macroautophagy  
    acts_upstream_of_or_within negative regulation of macroautophagy PubMed 
    involved_in negative regulation of protein localization to nucleus PubMed 
    involved_in neuronal action potential  
    involved_in oligodendrocyte differentiation  
    involved_in positive regulation of actin filament polymerization  
    involved_in positive regulation of cell growth PubMed 
    involved_in positive regulation of cytoplasmic translational initiation PubMed 
    involved_in positive regulation of epithelial to mesenchymal transition PubMed 
    involved_in positive regulation of glycolytic process PubMed 
    involved_in positive regulation of keratinocyte migration PubMed 
    involved_in positive regulation of lamellipodium assembly  
    involved_in positive regulation of lipid biosynthetic process PubMed 
    involved_in positive regulation of lipid biosynthetic process  
    involved_in positive regulation of lipid biosynthetic process PubMed 
    involved_in positive regulation of myotube differentiation  
    involved_in positive regulation of oligodendrocyte differentiation  
    involved_in positive regulation of pentose-phosphate shunt PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in positive regulation of stress fiber assembly  
    involved_in positive regulation of transcription by RNA polymerase III PubMed 
    involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I PubMed 
    involved_in positive regulation of translation PubMed 
    involved_in positive regulation of translational initiation PubMed 
    involved_in positive regulation of wound healing, spreading of epidermal cells PubMed 
    involved_in post-embryonic development  
    acts_upstream_of protein destabilization PubMed 
    involved_in regulation of actin cytoskeleton organization PubMed 
    involved_in regulation of autophagosome assembly PubMed 
    involved_in regulation of cell growth PubMed 
    involved_in regulation of cell size PubMed 
    involved_in regulation of cellular response to heat  
    involved_in regulation of circadian rhythm  
    involved_in regulation of locomotor rhythm  
    involved_in regulation of lysosome organization PubMed 
    involved_in regulation of macroautophagy  
    involved_in regulation of membrane permeability  
    involved_in regulation of myelination  
    involved_in regulation of osteoclast differentiation  
    involved_in regulation of signal transduction by p53 class mediator  
    involved_in response to amino acid PubMed 
    involved_in response to heat  
    involved_in response to nutrient levels PubMed 
    involved_in rhythmic process  
    involved_in ruffle organization  
    involved_in voluntary musculoskeletal movement  
    Items 1 - 25 of 93
    Items 1 - 20 of 30
    Component Evidence Code Pubs
    located_in Golgi membrane  
    colocalizes_with PML body  
    part_of TORC1 complex  
    part_of TORC1 complex PubMed 
    part_of TORC1 complex PubMed 
    part_of TORC1 complex PubMed 
    part_of TORC2 complex  
    part_of TORC2 complex PubMed 
    part_of TORC2 complex PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    is_active_in cytosol PubMed 
    located_in cytosol  
    located_in dendrite  
    located_in endomembrane system PubMed 
    is_active_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane  
    located_in lysosomal membrane PubMed 
    is_active_in lysosomal membrane PubMed 
    located_in lysosomal membrane PubMed 
    located_in lysosome PubMed 
    located_in lysosome PubMed 
    located_in membrane PubMed 
    located_in membrane PubMed 
    located_in mitochondrial outer membrane  
    located_in nuclear envelope PubMed 
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in phagocytic vesicle PubMed 
    is_active_in plasma membrane PubMed 
    Items 1 - 20 of 30

    General protein information

    Preferred Names
    serine/threonine-protein kinase mTOR
    Names
    FK506 binding protein 12-rapamycin associated protein 2
    FK506-binding protein 12-rapamycin complex-associated protein 1
    FKBP-rapamycin associated protein
    FKBP12-rapamycin complex-associated protein 1
    mammalian target of rapamycin
    mechanistic target of rapamycin (serine/threonine kinase)
    rapamycin and FKBP12 target 1
    rapamycin associated protein FRAP2
    rapamycin target protein 1
    NP_001373429.1
    NP_001373430.1
    NP_004949.1
    XP_011539468.1
    XP_016856389.1
    XP_047272677.1
    XP_047272680.1
    XP_054191719.1
    XP_054191720.1
    XP_054191721.1
    XP_054191722.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033239.1 RefSeqGene

      Range
      5001..161021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_734

    mRNA and Protein(s)

    1. NM_001386500.1 → NP_001373429.1  serine/threonine-protein kinase mTOR isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AL049653, AL109811, AL391561
      Consensus CDS
      CCDS127.1
      UniProtKB/Swiss-Prot
      P42345, Q4LE76, Q5TER1, Q6LE87, Q96QG3, Q9Y4I3
      UniProtKB/TrEMBL
      A0A8V8TRG9
      Conserved Domains (2) summary
      COG5032
      Location:363 → 2549
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      sd00044
      Location:655 → 681
      HEAT; HEAT repeat [structural motif]
    2. NM_001386501.1 → NP_001373430.1  serine/threonine-protein kinase mTOR isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049653, AL109811, AL391561
      UniProtKB/TrEMBL
      A0A8V8TRG9
      Conserved Domains (2) summary
      COG5032
      Location:66 → 2133
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      sd00044
      Location:239 → 265
      HEAT; HEAT repeat [structural motif]
    3. NM_004958.4 → NP_004949.1  serine/threonine-protein kinase mTOR isoform 1

      See identical proteins and their annotated locations for NP_004949.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA725390, AB209995, BC117166, BP250183, DC403129, L34075, U88966
      Consensus CDS
      CCDS127.1
      UniProtKB/Swiss-Prot
      P42345, Q4LE76, Q5TER1, Q6LE87, Q96QG3, Q9Y4I3
      UniProtKB/TrEMBL
      A0A8V8TRG9
      Related
      ENSP00000354558.4, ENST00000361445.9
      Conserved Domains (2) summary
      COG5032
      Location:363 → 2549
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      sd00044
      Location:655 → 681
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      11106535..11262551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000900.1 → XP_016856389.1  serine/threonine-protein kinase mTOR isoform X2

      UniProtKB/TrEMBL
      A0A8V8TRG9
    2. XM_047416724.1 → XP_047272680.1  serine/threonine-protein kinase mTOR isoform X3

    3. XM_047416721.1 → XP_047272677.1  serine/threonine-protein kinase mTOR isoform X1

      UniProtKB/TrEMBL
      A0A8V8TQN3
    4. XM_011541166.3 → XP_011539468.1  serine/threonine-protein kinase mTOR isoform X4

      UniProtKB/TrEMBL
      A0A8V8TQ52, A0A8V8TQM6
      Related
      ENSP00000515198.1, ENST00000703141.1
      Conserved Domains (3) summary
      COG5032
      Location:363 → 1587
      TEL1; Phosphatidylinositol kinase or protein kinase, PI-3 family [Signal transduction mechanisms]
      pfam11865
      Location:854 → 1024
      DUF3385; Domain of unknown function (DUF3385)
      sd00044
      Location:655 → 681
      HEAT; HEAT repeat [structural motif]

    RNA

    1. XR_007058581.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      10648106..10804142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335745.1 → XP_054191720.1  serine/threonine-protein kinase mTOR isoform X2

      UniProtKB/TrEMBL
      A0A8V8TRG9
    2. XM_054335746.1 → XP_054191721.1  serine/threonine-protein kinase mTOR isoform X3

    3. XM_054335744.1 → XP_054191719.1  serine/threonine-protein kinase mTOR isoform X1

      UniProtKB/TrEMBL
      A0A8V8TQN3
    4. XM_054335747.1 → XP_054191722.1  serine/threonine-protein kinase mTOR isoform X4

      UniProtKB/TrEMBL
      A0A8V8TQ52, A0A8V8TQM6

    RNA

    1. XR_008485983.1 RNA Sequence

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