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

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; AllianceGenome:HGNC:9588
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; PTENgama
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]
Annotation information: Annotation category: suggests misassembly
Expression: Ubiquitous expression in fat (RPKM 42.8), spleen (RPKM 28.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (87863625..87971930)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (88747528..88855830)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (89623382..89731687)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HOTAIR Promotes the Hyperactivation of PI3K/Akt and Wnt/beta-Catenin Signaling Pathways via PTEN Hypermethylation in Cervical Cancer.
Title: HOTAIR Promotes the Hyperactivation of PI3K/Akt and Wnt/β-Catenin Signaling Pathways via PTEN Hypermethylation in Cervical Cancer.
Decoding PTEN: from biological functions to signaling pathways in tumors.
Title: Decoding PTEN: from biological functions to signaling pathways in tumors.
NHEJ is promoted by the phosphorylation and phosphatase activity of PTEN via regulation of DNA-PKcs.
Title: NHEJ is promoted by the phosphorylation and phosphatase activity of PTEN via regulation of DNA-PKcs.
Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Title: Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids.
Rs12039395 Variant Influences the Expression of hsa-miR-181a-5p and PTEN Toward Colorectal Cancer Risk.
Title: Rs12039395 Variant Influences the Expression of hsa-miR-181a-5p and PTEN Toward Colorectal Cancer Risk.
RNA-binding protein GIGYF2 orchestrates hepatic insulin resistance through STAU1/PTEN-mediated disruption of the PI3K/AKT signaling cascade.
Title: RNA-binding protein GIGYF2 orchestrates hepatic insulin resistance through STAU1/PTEN-mediated disruption of the PI3K/AKT signaling cascade.
A retrospective analysis suggests PTEN expression is associated with favorable clinicopathological features of breast cancer.
Title: A retrospective analysis suggests PTEN expression is associated with favorable clinicopathological features of breast cancer.
The Role of PTEN in Chemoresistance Mediated by the HIF-1alpha/YY1 Axis in Pediatric Acute Lymphoblastic Leukemia.
Title: The Role of PTEN in Chemoresistance Mediated by the HIF-1α/YY1 Axis in Pediatric Acute Lymphoblastic Leukemia.
A miRNA-21-Mediated PTEN/Akt/NF-kappaB Axis Promotes Chronic Obstructive Pulmonary Disease Pathogenesis.
Title: A miRNA-21-Mediated PTEN/Akt/NF-κB Axis Promotes Chronic Obstructive Pulmonary Disease Pathogenesis.
Hsa_circ_0007590/PTBP1 complex reprograms glucose metabolism by reducing the stability of m[6]A-modified PTEN mRNA in pancreatic ductal adenocarcinoma.
Title: Hsa_circ_0007590/PTBP1 complex reprograms glucose metabolism by reducing the stability of m(6)A-modified PTEN mRNA in pancreatic ductal adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (2548)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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	not available
Familial meningioma MedGen: C3551915 OMIM: 607174 GeneReviews: MN1 C-Terminal Truncation Syndrome	not available
Glioma susceptibility 2 MedGen: C2751642 OMIM: 613028 GeneReviews: Not available	not available
Macrocephaly-autism syndrome MedGen: C1854416 OMIM: 605309 GeneReviews: Not available	not available
Malignant tumor of prostate MedGen: C0376358 GeneReviews: Not available	not available
PTEN hamartoma tumor syndrome MedGen: C1959582 GeneReviews: PTEN Hamartoma Tumor Syndrome	not available

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S610 (e-PCR)
- UniSTS:23815

PMC20246P1 (e-PCR)
- UniSTS:271890

STS-H71499 (e-PCR)
- UniSTS:5911

G19918 (e-PCR)
- UniSTS:77108

D10S221 (e-PCR)
- UniSTS:35654

RH66859 (e-PCR)
- UniSTS:92239

RH92455 (e-PCR)
- UniSTS:85842

RH122960 (e-PCR)
- UniSTS:135257

RH122724 (e-PCR)
- UniSTS:133995

AFMA086WG9 (e-PCR)
- UniSTS:2163

PTEN_234 (e-PCR)
- UniSTS:468624

MARC_17017-17018:1023291848:1 (e-PCR)
- UniSTS:268185

Pten (e-PCR), detects polymorphism
- UniSTS:144288

WI-18385 (e-PCR)
- UniSTS:55210

STS-W73720 (e-PCR)
- UniSTS:71597

PMC154149P1 (e-PCR)
- UniSTS:271292

PMC88770P1 (e-PCR)
- UniSTS:273605

PMC88770P2 (e-PCR)
- UniSTS:273606

PMC88770P3 (e-PCR)
- UniSTS:273607

RH103681 (e-PCR)
- UniSTS:98006

SHGC-111133 (e-PCR)
- UniSTS:168163

RH79866 (e-PCR)
- UniSTS:90866

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MAP kinase serine/threonine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables anaphase-promoting complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin-dependent protein phosphatase activity	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone H2AXS140 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables molecular function inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables myosin phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
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-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein tyrosine phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info
enables ubiquitin ligase activator activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables ubiquitin-specific protease binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adult behavior	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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
involved_in cellular response to electrical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
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	PubMed
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in dentate gyrus development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 learning or memory	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in locomotor rhythm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in maternal behavior	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in multicellular organismal response to stress	ISS Inferred from Sequence or Structural Similarity more info
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 axonogenesis	ISS Inferred from Sequence or Structural Similarity 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	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	PubMed
involved_in negative regulation of cellular senescence	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 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 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	PubMed
involved_in negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS Traceable Author Statement more info	PubMed
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 synaptic vesicle clustering	ISS Inferred from Sequence or Structural Similarity more info	PubMed
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 phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
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 positive regulation of DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
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 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	PubMed
involved_in presynaptic membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
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 stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in rhythmic synaptic transmission	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in social behavior	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in spindle assembly involved in female meiosis	IDA Inferred from Direct Assay more info	PubMed
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
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
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 myelin sheath adaxonal region	ISS Inferred from Sequence or Structural Similarity more info
is_active_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
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
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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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; PTEN variant PTEN-K267Rfs*9; PTEN variant PTEN-L247*; PTEN variant PTEN-R234Afs*11; PTENepsilon; inositol polyphosphate 3-phosphatase; 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

EC 3.1.3.16

EC 3.1.3.48

EC 3.1.3.67

NP_001291646.4

EC 3.1.3.16

EC 3.1.3.48

EC 3.1.3.67

NP_001291647.1

EC 3.1.3.16

EC 3.1.3.48

EC 3.1.3.67

NCBI Reference Sequences (RefSeq)

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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

NG_007466.2 RefSeqGene

Range

5001..113492

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_311

mRNA and Protein(s)

NM_000314.8 → NP_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

B2R904, F2YHV0, O00633, O02679, P60484, Q6ICT7

UniProtKB/TrEMBL

A0A386NCS8, F6KCZ3, F6KCZ4, F6KD01

Related

ENSP00000361021.3, ENST00000371953.8

Conserved Domains (2) summary

cd14509
Location:24 → 181

PTP_PTEN; protein tyrosine phosphatase-like catalytic domain of phosphatase and tensin homolog

pfam10409
Location:188 → 349

PTEN_C2; C2 domain of PTEN tumor-suppressor protein
NM_001304717.5 → NP_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

UniProtKB/TrEMBL

A0A024QYR6

Related

ENSP00000509861.1, ENST00000693560.1
NM_001304718.2 → NP_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:1 → 152

PTEN_C2; C2 domain of PTEN tumor-suppressor protein