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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Plasma proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
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.
Chromosome
X
Cytoband
q28
Chromosome location (bp)
150568417 - 150673143
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) 1,2,3,4. Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides 5. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome 6. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture 7. Plays a role in mitochondrial morphology and positioning 8. Required for skeletal muscle maintenance but not for myogenesis 9. In skeletal muscles, stabilizes MTMR12 protein levels 10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protein phosphatase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Lipid metabolism, Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000045[autophagosome assembly] GO:0001726[ruffle] GO:0004438[phosphatidylinositol-3-phosphatase activity] GO:0004721[phosphoprotein phosphatase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005770[late endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006470[protein dephosphorylation] GO:0006629[lipid metabolic process] GO:0006661[phosphatidylinositol biosynthetic process] GO:0008333[endosome to lysosome transport] GO:0015031[protein transport] GO:0016020[membrane] GO:0016311[dephosphorylation] GO:0016787[hydrolase activity] GO:0016791[phosphatase activity] GO:0019215[intermediate filament binding] GO:0030017[sarcomere] GO:0030175[filopodium] GO:0031674[I band] GO:0031929[TOR signaling] GO:0032007[negative regulation of TOR signaling] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035091[phosphatidylinositol binding] GO:0042995[cell projection] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043491[protein kinase B signaling] GO:0044088[regulation of vacuole organization] GO:0045109[intermediate filament organization] GO:0046716[muscle cell cellular homeostasis] GO:0046856[phosphatidylinositol dephosphorylation] GO:0048311[mitochondrion distribution] GO:0048630[skeletal muscle tissue growth] GO:0048633[positive regulation of skeletal muscle tissue growth] GO:0051898[negative regulation of protein kinase B signaling] GO:0052629[phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity] GO:0070584[mitochondrion morphogenesis] GO:0106018[phosphatidylinositol-3,5-bisphosphate phosphatase activity] GO:1902902[negative regulation of autophagosome assembly]
Metabolic proteins Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Muscular diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Phobius predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
