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RNA category is based on mRNA expression levels in the analyzed samples (RNA assay description). The categories include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected. RNA category is calculated separately for data imported from The Genotype-Tissue Expression project (GTEX), FANTOM5 Consortium (FANTOM5) and internally generated Human Protein Atlas (HPA) data.
Protein evidence scores are generated from several independent sources and are classified as evidence at i) protein level, ii) transcript level, iii) no evidence, or iv) not available.
Evidence at protein level
Protein expressioni
A summary of the overall protein expression pattern across the analyzed normal tissues. The summary is based on knowledge-based annotation.
"Estimation of protein expression could not be performed. View primary data." is shown for genes analyzed with a knowledge-based approach where available RNA-seq and gene/protein characterization data has been evaluated as not sufficient in combination with immunohistochemistry data to yield a reliable estimation of the protein expression profile.
Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.
Antibody staining mainly not consistent with RNA expression data.
Reliability scorei
Reliability score (score description), divided into Enhanced, Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between antibody staining pattern, available RNA-Seq and gene/protein characterization data, as well as similarity between independent antibodies targeting the same protein.
Below is an overview of RNA and protein expression data generated in the Human Protein Atlas project. Analyzed tissues are divided into color-coded groups according to which functional features they have in common. For each group, a list of included tissues is accessed by clicking on group name, group symbol, RNA bar, or protein bar. Subsequent selection of a particular tissue in this list links to the image data page.
Images of selected tissues give a visual summary of the protein expression profile furthest to the right.
The gray human body provides links to a histology dictionary when clicking on any part of the figure.
RNA expression (TPM)i
RNA-seq results generated in HPA are reported as number of transcripts per million (TPM). Each bar represents the highest expression score found in a particular group of tissues. The assay is described more in detail in Assays & Annotation.
Protein expression (score)i
Each bar represents the highest expression score found in a particular group of tissues. Protein expression scores are based on a best estimate of the "true" protein expression from a knowledge-based annotation, described more in detail under Assays & annotation. For genes where more than one antibody has been used, a collective score is set displaying the estimated true protein expression.
Protein expression data is shown for each of the 44 tissues. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. Mouse-over function shows protein score for analyzed cell types in a selected tissue. To access image data click on tissue name or bar. Annotation of protein expression is described in detail in Assays & annotation.
For genes with available protein data for which a knowledge-based annotation gave inconclusive results, no protein expression data is displayed in the protein expression data overview. However, all immunohistochemical images are still available and the annotation data can be found under Primary data.
Organ
Expression
Alphabetical
RNA EXPRESSION OVERVIEWi
RNA expression overview shows RNA-data from three different sources: Internally generated Human Protein Atlas (HPA) RNA-seq data, RNA-seq data from the Genotype-Tissue Expression (GTEx) project and CAGE data from FANTOM5 project. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar.
HPA dataseti
HPA dataset RNA-seq tissue data is reported as mean TPM (transcripts per million), corresponding to mean values of the different individual samples from each tissue. Color-coding is based on tissue groups, each consisting of tissues with functional features in common. To access sample data, click on tissue name or bar. The RNA-seq assay is described in detail in Assays & Annotation.
RNA tissue category HPA HPA RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataseti
GTEx dataset RNA-seq data is reported as median RPKM (reads per kilobase per million mapped reads), generated by the Genotype-Tissue Expression (GTEx) project. More information can be found in Assays & Annotation.
RNA tissue category GTEx GTEx RNA tissue category (category description) is calculated based on mRNA expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataseti
FANTOM5 dataset Tissue data obtained through Cap Analysis of Gene Expression (CAGE) are reported as Tags Per Million, generated by the FANTOM5 project. More information can be found in Assays & Annotation.
RNA tissue category FANTOM5 FANTOM5 RNA tissue category (category description) is calculated based on gene expression levels across all tissues and include: tissue enriched, group enriched, tissue enhanced, expressed in all, mixed and not detected.
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GENE INFORMATIONi
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name
PTEN (HGNC Symbol)
Synonyms
BZS, MHAM, MMAC1, PTEN1, TEP1
Description
Phosphatase and tensin homolog (HGNC Symbol)
Entrez gene 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]
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Under the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
PTEN-001
PTEN-005
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P60484 [Direct mapping] Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN F6KD01 [Target identity:100%; Query identity:100%] Phosphatase and tensin-like protein; Phosphatase and tensin-like protein isoform A
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Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000079 [regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0000287 [magnesium ion binding] GO:0001525 [angiogenesis] GO:0001933 [negative regulation of protein phosphorylation] GO:0002902 [regulation of B cell apoptotic process] GO:0004438 [phosphatidylinositol-3-phosphatase activity] GO:0004721 [phosphoprotein phosphatase activity] GO:0004722 [protein serine/threonine phosphatase activity] GO:0004725 [protein tyrosine phosphatase activity] GO:0005161 [platelet-derived growth factor receptor binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005739 [mitochondrion] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006470 [protein dephosphorylation] GO:0006629 [lipid metabolic process] GO:0006661 [phosphatidylinositol biosynthetic process] GO:0006915 [apoptotic process] GO:0007270 [neuron-neuron synaptic transmission] GO:0007399 [nervous system development] GO:0007416 [synapse assembly] GO:0007417 [central nervous system development] GO:0007507 [heart development] GO:0007568 [aging] GO:0007584 [response to nutrient] GO:0007611 [learning or memory] GO:0007613 [memory] GO:0007626 [locomotory behavior] GO:0008138 [protein tyrosine/serine/threonine phosphatase activity] GO:0008283 [cell proliferation] GO:0008284 [positive regulation of cell proliferation] GO:0008285 [negative regulation of cell proliferation] GO:0008289 [lipid binding] GO:0009749 [response to glucose] GO:0009898 [cytoplasmic side of plasma membrane] GO:0010033 [response to organic substance] GO:0010035 [response to inorganic substance] GO:0010043 [response to zinc ion] GO:0010975 [regulation of neuron projection development] GO:0010997 [anaphase-promoting complex binding] GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling] GO:0014070 [response to organic cyclic compound] GO:0016311 [dephosphorylation] GO:0016314 [phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity] GO:0016324 [apical plasma membrane] GO:0016477 [cell migration] GO:0016579 [protein deubiquitination] GO:0016605 [PML body] GO:0016787 [hydrolase activity] GO:0016791 [phosphatase activity] GO:0019899 [enzyme binding] GO:0019901 [protein kinase binding] GO:0021542 [dentate gyrus development] GO:0021955 [central nervous system neuron axonogenesis] GO:0030165 [PDZ domain binding] GO:0030336 [negative regulation of cell migration] GO:0030534 [adult behavior] GO:0031175 [neuron projection development] GO:0031642 [negative regulation of myelination] GO:0031647 [regulation of protein stability] GO:0031658 [negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle] GO:0032228 [regulation of synaptic transmission, GABAergic] GO:0032286 [central nervous system myelin maintenance] GO:0032355 [response to estradiol] GO:0032535 [regulation of cellular component size] GO:0033032 [regulation of myeloid cell apoptotic process] GO:0033198 [response to ATP] GO:0033555 [multicellular organismal response to stress] GO:0035176 [social behavior] GO:0035335 [peptidyl-tyrosine dephosphorylation] GO:0035749 [myelin sheath adaxonal region] GO:0036294 [cellular response to decreased oxygen levels] GO:0042493 [response to drug] GO:0042711 [maternal behavior] GO:0042802 [identical protein binding] GO:0042995 [cell projection] GO:0043005 [neuron projection] GO:0043065 [positive regulation of apoptotic process] GO:0043066 [negative regulation of apoptotic process] GO:0043197 [dendritic spine] GO:0043220 [Schmidt-Lanterman incisure] GO:0043491 [protein kinase B signaling] GO:0043542 [endothelial cell migration] GO:0043647 [inositol phosphate metabolic process] GO:0045211 [postsynaptic membrane] GO:0045471 [response to ethanol] GO:0045475 [locomotor rhythm] GO:0045792 [negative regulation of cell size] GO:0046621 [negative regulation of organ growth] GO:0046685 [response to arsenic-containing substance] GO:0046855 [inositol phosphate dephosphorylation] GO:0046856 [phosphatidylinositol dephosphorylation] GO:0048008 [platelet-derived growth factor receptor signaling pathway] GO:0048015 [phosphatidylinositol-mediated signaling] GO:0048679 [regulation of axon regeneration] GO:0048681 [negative regulation of axon regeneration] GO:0048738 [cardiac muscle tissue development] GO:0048853 [forebrain morphogenesis] GO:0048854 [brain morphogenesis] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0050765 [negative regulation of phagocytosis] GO:0050771 [negative regulation of axonogenesis] GO:0050821 [protein stabilization] GO:0050852 [T cell receptor signaling pathway] GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] GO:0051717 [inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity] GO:0051726 [regulation of cell cycle] GO:0051800 [phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity] GO:0051895 [negative regulation of focal adhesion assembly] GO:0051898 [negative regulation of protein kinase B signaling] GO:0060024 [rhythmic synaptic transmission] GO:0060044 [negative regulation of cardiac muscle cell proliferation] GO:0060070 [canonical Wnt signaling pathway] GO:0060074 [synapse maturation] GO:0060134 [prepulse inhibition] GO:0060179 [male mating behavior] GO:0060291 [long-term synaptic potentiation] GO:0060292 [long term synaptic depression] GO:0060341 [regulation of cellular localization] GO:0060736 [prostate gland growth] GO:0060997 [dendritic spine morphogenesis] GO:0061002 [negative regulation of dendritic spine morphogenesis] GO:0070373 [negative regulation of ERK1 and ERK2 cascade] GO:0070374 [positive regulation of ERK1 and ERK2 cascade] GO:0071456 [cellular response to hypoxia] GO:0090071 [negative regulation of ribosome biogenesis] GO:0090344 [negative regulation of cell aging] GO:0090394 [negative regulation of excitatory postsynaptic potential] GO:0097105 [presynaptic membrane assembly] GO:0097107 [postsynaptic density assembly] GO:1903984 [positive regulation of TRAIL-activated apoptotic signaling pathway] GO:1904668 [positive regulation of ubiquitin protein ligase activity] GO:1990381 [ubiquitin-specific protease binding] GO:2000060 [positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:2000134 [negative regulation of G1/S transition of mitotic cell cycle] GO:2000463 [positive regulation of excitatory postsynaptic potential] GO:2000808 [negative regulation of synaptic vesicle clustering] GO:2001235 [positive regulation of apoptotic signaling pathway]
The Human Protein Atlas project is funded
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