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

Gene ID: 5728, updated on 24-May-2020

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

Genomic context

See PTEN in Genome Data Viewer
Location:
10q23.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (87863625..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 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
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: C3551915 OMIM: 607174 GeneReviews: Not available
Compare labs
PTEN hamartoma tumor syndrome
MedGen: C1959582 OMIM: 601728 GeneReviews: PTEN Hamartoma Tumor Syndrome
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

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
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 
ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase binding IEA
Inferred from Electronic Annotation
more info
 
protein tyrosine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
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
 
ubiquitin-specific protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
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 motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to electrical stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to ethanol IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin-like growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to leptin stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to nerve growth factor stimulus 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
 
dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
forebrain morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
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 ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 axon regeneration IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell cycle G1/S phase transition IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
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 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 epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 keratinocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of myelination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of organ growth ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
PubMed 
negative regulation of potassium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
negative regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of ribosome biogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of synaptic vesicle clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of vascular smooth muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of wound healing, spreading of epidermal cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron-neuron synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol 3-kinase signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
platelet-derived growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of TRAIL-activated apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle cell apoptotic process 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 gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein dephosphorylation TAS
Traceable Author Statement
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
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 cellular component size ISS
Inferred from Sequence or Structural Similarity
more info
 
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 kinase B signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 activity IEA
Inferred from Electronic Annotation
more info
 
response to arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to glucose 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
 
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 IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
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
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
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)

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
    pfam10409
    Location:188349
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    cd14509
    Location:24181
    PTP_PTEN; protein tyrosine phosphatase-like catalytic domain of phosphatase and tensin homolog
  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.

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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