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

    Gene ID: 5728, updated on 26-Jul-2021

    Summary

    Official Symbol
    PTENprovided by HGNC
    Official Full Name
    phosphatase and tensin homologprovided by HGNC
    Primary source
    HGNC:HGNC:9588
    See related
    Ensembl:ENSG00000171862 MIM:601728
    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; PTENbeta
    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]
    Expression
    Ubiquitous expression in fat (RPKM 42.8), spleen (RPKM 28.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PTEN in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (87863625..87971930)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89623382..89731687)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 1 Neighboring gene cofilin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 78, pseudogene Neighboring gene uncharacterized LOC107987150 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

    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

    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
    Cowden syndrome 1
    MedGen: CN072330 OMIM: 158350 GeneReviews: PTEN Hamartoma Tumor Syndrome
    Compare labs
    Genome-wide association study of chronic periodontitis in a general German population.
    GeneReviews: Not available
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    GeneReviews: Not available
    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 Compare labs
    PTEN hamartoma tumor syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-24)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-24)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    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 MA proteins from HIV-1 infected non-Hodgkin lymphoma patients activates AKT1 and PTEN PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC11227

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables anaphase-promoting complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity TAS
    Traceable Author Statement
    more info
     
    enables phosphatidylinositol-3-phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphoprotein phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables platelet-derived growth factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein tyrosine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein tyrosine/serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin-specific protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in brain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to electrical stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to insulin-like growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to leptin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to nerve growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system myelin maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in central nervous system neuron axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inositol phosphate dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotor rhythm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in long-term synaptic depression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male mating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maternal behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell aging IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell cycle G1/S phase transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell size ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of focal adhesion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of keratinocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of organ growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of potassium ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein kinase B signaling TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic vesicle clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of vascular associated smooth muscle cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of wound healing, spreading of epidermal cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron-neuron synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-tyrosine dephosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phosphatidylinositol 3-kinase signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphatidylinositol dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of TRAIL-activated apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in prepulse inhibition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in presynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein dephosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein dephosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein kinase B signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of B cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cellular component size ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of myeloid cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein kinase B signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ATP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to arsenic-containing substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhythmic synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in social behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synapse maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Schmidt-Lanterman incisure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in myelin sheath adaxonal region ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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
    PTENepsilon
    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
    protein tyrosine phosphatase
    NP_000305.3
    NP_001291646.4
    NP_001291647.1

    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_007466.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000314.8NP_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 the 5'-most AUG start codon, is represented in this RefSeq.
      Source sequence(s)
      AC063965
      Consensus CDS
      CCDS31238.1
      UniProtKB/Swiss-Prot
      P60484
      UniProtKB/TrEMBL
      F6KD01
      Related
      ENSP00000361021.3, ENST00000371953.8
      Conserved Domains (2) summary
      cd14509
      Location:24181
      PTP_PTEN; protein tyrosine phosphatase-like catalytic domain of phosphatase and tensin homolog
      pfam10409
      Location:188349
      PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    2. NM_001304717.5NP_001291646.4  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
    3. NM_001304718.2NP_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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

      Range
      87863625..87971930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_013171807.1 Reference GRCh38.p13 PATCHES

      Range
      79449..187719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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