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    PTEN phosphatase and tensin homolog [ Homo sapiens (human) ]

    Gene ID: 5728, updated on 24-Aug-2015
    Official Symbol
    PTENprovided by HGNC
    Official Full Name
    phosphatase and tensin homologprovided by HGNC
    Primary source
    HGNC:HGNC:9588
    See related
    Ensembl:ENSG00000171862; HPRD:03431; MIM:601728; Vega:OTTHUMG00000018688
    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
    BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del
    Summary
    This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
    Orthologs
    See PTEN in Epigenomics, MapViewer
    Location:
    10q23.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (87863438..87971930)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89623195..89728532)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATPase family, AAA domain containing 1 Neighboring gene cofilin 1 (non-muscle) pseudogene 1 Neighboring gene killin, p53-regulated DNA replication inhibitor Neighboring gene ribosomal protein L11 pseudogene 3 Neighboring gene uncharacterized LOC105378414 Neighboring gene uncharacterized LOC105378415 Neighboring gene mediator complex subunit 6 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in PTEN that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Bannayan-Riley-Ruvalcaba syndrome Compare labs
    Cowden syndrome 1 Compare labs
    Cutaneous malignant melanoma 1
    MedGen: C1835047 OMIM: 155600 GeneReviews: Not available
    Compare labs
    Endometrial carcinoma
    MedGen: C0476089 OMIM: 608089 GeneReviews: Not available
    Compare labs
    Glioma susceptibility 2
    MedGen: C2751642 OMIM: 613028 GeneReviews: Not available
    Compare labs
    Macrocephaly/autism syndrome
    MedGen: C1854416 OMIM: 605309 GeneReviews: Not available
    Compare labs
    Malignant tumor of prostate
    MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
    Compare labs
    Meningioma, familial
    MedGen: C1333989 OMIM: 607174 GeneReviews: Not available
    Compare labs
    PTEN hamartoma tumor syndrome Compare labs
    Squamous cell carcinoma of the head and neck
    MedGen: C1168401 OMIM: 275355 GeneReviews: Not available
    Compare labs
    Thyroid cancer, follicular
    MedGen: C0206682 OMIM: 188470 GeneReviews: Not available
    Compare labs
    Vacterl association with hydrocephalus
    MedGen: C1848599 OMIM: 276950 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2011-10-28)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    NHGRI GWA Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of phosphatase and tensin homolog (PTEN) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Silencing PTEN gene by siRNA prevents HIV-1 gp120-mediated neurotoxic effects PubMed
    Nef nef HIV-1 Nef- and KSHV K1-induced angiogenesis is regulated by miR-718-mediated target of PTEN PubMed
    Tat 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 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 upregulates PTEN expression in Tat-infected Jurkat T cells PubMed
    tat Inhibiting phosphatidylinositol 3-kinase by overexpressing PTEN phosphatase enhances HIV-1 Tat transactivation of the viral LTR promoter 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-induced activation of PTEN is mediated by RhoA-associated kinase (ROCK) PubMed

    Go to the HIV-1, Human Interaction Database

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    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
      Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
      Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystem (from REACTOME)
      Synthesis of IP3 and IP4 in the cytosol, organism-specific biosystemAn array of inositol trisphosphate (IP3) and tetrakisphosphate (IP4) molecules are synthesised by the action of various kinases and phosphatases in the cytosol (Irvine & Schell 2001, Bunney & Katan 2...
    • Synthesis of PIPs at the plasma membrane, organism-specific biosystem (from REACTOME)
      Synthesis of PIPs at the plasma membrane, organism-specific biosystemAt the plasma membrane, subsequent phosphorylation of phosphatidylinositol 4-phosphate (PI4P) produces phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate (...
    • TCR signaling, organism-specific biosystem (from REACTOME)
      TCR signaling, organism-specific biosystemThe TCR is a multisubunit complex that consists of clonotypic alpha/beta chains noncovalently associated with the invariant CD3 delta/epsilon/gamma and TCR zeta chains. T cell activation by antigen p...
    • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD4+ T cells, organism-specific biosystem
      TCR signaling in naive CD4+ T cells
    • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Metabolic Genes, organism-specific biosystemThe tumor suppressor protein TP53 (p53) regulates transcription of a number of genes involved in the metabolism of carbohydrates, nucleotides and amino acids, protein synthesis and aerobic respiratio...
    • Tight junction, organism-specific biosystem (from KEGG)
      Tight junction, organism-specific biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Tight junction, conserved biosystem (from KEGG)
      Tight junction, conserved biosystemEpithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of ma...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemTP53 regulates transcription of a number of genes involved in cellular metabolism, survival, senescence and DNA damage response. For a recent review, please refer to Vousden and Prives 2009.
    • mTOR signaling pathway, organism-specific biosystem (from KEGG)
      mTOR signaling pathway, organism-specific biosystem
      mTOR signaling pathway
    • mTOR signaling pathway, conserved biosystem (from KEGG)
      mTOR signaling pathway, conserved biosystem
      mTOR signaling pathway
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem (from BIOCYC)
      superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem
      superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
    • superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem (from BIOCYC)
      superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
    • superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
      superpathway of inositol phosphate compounds, organism-specific biosystem
      superpathway of inositol phosphate compounds
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC11227

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    anaphase-promoting complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol-3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet-derived growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein tyrosine/serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    activation of APC-Cdc20 complex activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    central nervous system myelin maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    central nervous system neuron axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    forebrain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gene expression TAS
    Traceable Author Statement
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    inositol phosphate dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    locomotor rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    long term synaptic depression IEA
    Inferred from Electronic Annotation
    more info
     
    long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    male mating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    memory IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organismal response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell aging IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell size ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of organ growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of synaptic vesicle clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron-neuron synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    peptidyl-tyrosine dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
     
    platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of sequence-specific DNA binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prepulse inhibition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    presynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein dephosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    protein kinase B signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cellular component size ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cyclin-dependent protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of myeloid cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
     
    response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    rhythmic synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    PML body IEA
    Inferred from Electronic Annotation
    more info
     
    Schmidt-Lanterman incisure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    myelin sheath adaxonal region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
    Names
    MMAC1 phosphatase and tensin homolog deleted on chromosome 10
    mitochondrial PTENalpha
    mitochondrial phosphatase and tensin protein alpha
    mutated in multiple advanced cancers 1
    phosphatase and tensin-like protein
    phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
    NP_000305.3
    NP_001291647.1

    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_007466.2 RefSeqGene

      Range
      5001..113492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_311

    mRNA and Protein(s)

    1. NM_000314.6NP_000305.3  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform PTEN

      See identical proteins and their annotated locations for NP_000305.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (PTEN-L, PMID:23744781; also known as PTENalpha, PMID: 24768297) is derived from the use of an upstream non-AUG (CUG) start codon, while two shorter isoforms are derived from downstream AUG start codons. The most abundant isoform (PTEN), which is derived from the use of 5'-most AUG start codon, is represented in this RefSeq.
      Source sequence(s)
      AA836562, AC063965, BC005821, U92436
      Consensus CDS
      CCDS31238.1
      UniProtKB/TrEMBL
      F6KD01
      UniProtKB/Swiss-Prot
      P60484
      Related
      ENSP00000361021, OTTHUMP00000020032, ENST00000371953, OTTHUMT00000049241
      Conserved Domains (2) summary
      smart00404
      Location:92183
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      pfam10409
      Location:188349
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    2. NM_001304717.2NP_001291646.2  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform PTEN-L

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes multiple isoforms due to the use of alternative translation initiation codons. The longest isoform (PTEN-L, PMID:23744781; also known as PTENalpha, PMID: 24768297) is derived from the use of an upstream non-AUG (CUG) start codon, while two shorter isoforms are derived from downstream AUG start codons. PTEN-L, initiates with a Leucine, rather than a Methionine, is thought to be preferentially associated with the mitochondrial inner membrane (PMID: 24768297), and is represented in this RefSeq.
      Source sequence(s)
      AA836562, AC063965, BC005821, U92436
      UniProtKB/Swiss-Prot
      P60484
      Conserved Domains (2) summary
      smart00404
      Location:265356
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      pfam10409
      Location:361522
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    3. NM_001304718.1NP_001291647.1  phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform 3

      See identical proteins and their annotated locations for NP_001291647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) both contains and lacks alternate exons in its 5' UTR compared to variant 1. This variant represents translation initiation at a downstream AUG compared to the more upstream CUG and AUG start codons, as used in variant 1. Use of the more 5' initiation codons, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter N-terminus, compared to isoform PTENalpha and PTEN.
      Source sequence(s)
      AA836562, AC063965, BC005821, JF268690, U92436
      UniProtKB/Swiss-Prot
      P60484
      Conserved Domains (1) summary
      pfam10409
      Location:1152
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      87863438..87971930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717926.2XP_006717989.1  

      See identical proteins and their annotated locations for XP_006717989.1

      Conserved Domains (2) summary
      smart00404
      Location:77168
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      pfam10409
      Location:173334
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    2. XM_011539981.1XP_011538283.1  

      Conserved Domains (2) summary
      smart00404
      Location:92183
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      pfam10409
      Location:188342
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    3. XM_011539982.1XP_011538284.1  

      Conserved Domains (2) summary
      smart00404
      Location:60151
      PTPc_motif; Protein tyrosine phosphatase, catalytic domain motif
      pfam10409
      Location:156317
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein

    RNA

    1. XR_945791.1 RNA Sequence

    2. XR_945790.1 RNA Sequence

    3. XR_945789.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      89905493..90013981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)