{ "uniprot_canonical_ac": "A0A0G2JXT6-1", "uniprot_ac": "A0A0G2JXT6", "uniprot_id": "MTMR6_RAT", "mass": { "chemical_mass": 75577.0, "monoisotopic_mass": 75577.0 }, "refseq": {}, "gene_names": [ { "name": "Mtmr6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6", "id": "A0A0G2JXT6" } ], "protein_names": [ { "name": "Myotubularin-related protein 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A0G2JXT6" }, { "name": "3.1.3.64", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JXT6" }, { "name": "3.1.3.95", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JXT6" }, { "name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JXT6" }, { "name": "Phosphatidylinositol-3-phosphate phosphatase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0G2JXT6" } ], "function": [ { "annotation": "Phosphatase that acts on lipids with a phosphoinositol headgroup. Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate. Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (By similarity). Negatively regulates ER-Golgi protein transport (PubMed:23188820). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate. Negatively regulates proliferation of reactivated CD4(+) T-cells. In complex with MTMR9, negatively regulates DNA damage-induced apoptosis. The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6#function" }, { "database": "PubMed", "id": "23188820", "url": "https://glygen.org/publication/PubMed/23188820" }, { "database": "UniProtKB", "id": "Q9Y217", "url": "https://www.uniprot.org/uniprot/Q9Y217#function" } ] } ], "disease": [ { "disease_id": "DOID:0111225", "recommended_name": { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "centronuclear myopathy X-linked", "description": "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28." }, "synonyms": [ { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "CNMX", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "MTM1", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "X-linked myotubular myopathy", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "XLCNM", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "XLMTM", "description": "" }, { "id": "DOID:0111225", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111225", "name": "myotubular myopathy 1", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "X-linked centronuclear myopathy", "description": "A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure." }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "MTM", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "X-linked centronuclear myopathy", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "X-linked myotubular myopathy", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "XLCNM", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "XLMTM", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "centronuclear myopathy, X-linked", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myotubular myopathy, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "CNMX", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myopathy, centronuclear, X-linked", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myotubular myopathy 1", "description": "" }, { "id": "MONDO:0010683", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010683", "name": "myotubular myopathy, X-linked", "description": "" }, { "id": "MIM:310400", "resource": "MIM", "url": "https://www.omim.org/entry/310400", "name": "Myopathy, centronuclear, X-linked", "description": "Myopathy, centronuclear, X-linked" } ], "evidence": [ { "id": "0111225", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111225" } ] }, { "disease_id": "DOID:10595", "recommended_name": { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." }, "synonyms": [ { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "CMT - Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth syndrome type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "hereditary motor and sensory neuropathy 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "microduplication 17p12", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot Marie Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN 1A", "description": "" }, { "id": "MIM:118220", "resource": "MIM", "url": "https://www.omim.org/entry/118220", "name": "Charcot-Marie-Tooth disease, demyelinating, 1A", "description": "Charcot-Marie-Tooth disease, demyelinating, 1A" } ], "evidence": [ { "id": "10595", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ] }, { "disease_id": "DOID:14717", "recommended_name": { "id": "DOID:14717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14717", "name": "centronuclear myopathy", "description": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery." }, "synonyms": [ { "id": "DOID:14717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14717", "name": "myotubular myopathy", "description": "" } ], "evidence": [ { "id": "14717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "common_name": "Rat" } ], "gene": [ { "name": "Mtmr6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6", "locus": { "chromosome": "15", "start_pos": 34457861, "end_pos": 34419903, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000012918", "url": "https://www.ensembl.org/id/ENSRNOG00000012918" } ] } } ], "crossref": [ { "id": "ENSRNOG00000012918", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000012918", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd13343", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd13343", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "305935", "url": "https://www.ncbi.nlm.nih.gov/gene/305935", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR003595", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003595", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR010569", "url": "https://www.ebi.ac.uk/interpro/entry/IPR010569", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016130", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016130", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029021", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029021", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030564", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030564", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035998", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035998", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:305935", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:305935", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "QHTDVNR", "url": "https://omabrowser.org/oma/group/QHTDVNR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5474662at2759", "url": "http://www.orthodb.org/?query=5474662at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10807", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10807", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10807:SF34", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10807:SF34", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF06602", "url": "http://pfam.xfam.org/family/PF06602", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A0A0G2JXT6", "url": "http://purl.obolibrary.org/obo/PR_A0A0G2JXT6", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-1660499", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1660499", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "XP_006252173", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006252173", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1305378", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1305378", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "12316", "url": "https://www.rhea-db.org/rhea/12316", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "39019", "url": "https://www.rhea-db.org/rhea/39019", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "42328", "url": "https://www.rhea-db.org/rhea/42328", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "45632", "url": "https://www.rhea-db.org/rhea/45632", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2JXT6-1", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AFC4", "url": "https://www.uniprot.org/uniprot/A0A8I6AFC4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AFC4-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AFC4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZC22", "url": "https://www.uniprot.org/uniprot/D3ZC22", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZC22-1", "url": "https://www.uniprot.org/uniprot/D3ZC22-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEHIRTTKVEQVKLLDRFSTNNKSLTGTLYLTATHLLFIDAHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRIVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDTERLNGWQLIDLAAEYERMGVPNANWQLSDANREYKVCETYPRELYVPRTASRPVIVGSSNFRSKGRLPVLSYCQQGTEAAICRCSQPLSGFSARCLEDEHLLQAISKANPGNRYMYVVDTRPKLRMQSWWDTQKDIGRIIVRISSKIWNDEKIRESDEKKRLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGSKGLSVNDFYSGLESSGWLRHIKAVLDAAIFLAKAIVVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTMKGFMVLIEKDWISFGHKFSERCGHLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFNEAFLLQIHEHIHSCQFGNFLGNCQKEREELRLKEKTYSLWPFLLADKKKYLNPLYSSKSQRLTVLEPNTASFNFKFWRNMYHQFDRTLHPRQSVLNIIMNMNEQNKQLEEDVKDLEAKIKQCKSGILTKDLLHAVHPESPSLKTSLCLKEQSLLPVKDTLRAVEGSSPADNRYCDYTEEFSKSEPAVVSLEYGVARMTC", "length": 655, "header": "sp|A0A0G2JXT6-1|MTMR6_RAT Isoform 1 of Myotubularin-related protein 6 OS=Rattus norvegicus OX=10116 GN=Mtmr6 PE=1 SV=1 CANONICAL=A0A0G2JXT6-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JXT6-1", "url": "", "sequence": { "sequence": "MEHIRTTKVEQVKLLDRFSTNNKSLTGTLYLTATHLLFIDAHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRIVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDTERLNGWQLIDLAAEYERMGVPNANWQLSDANREYKVCETYPRELYVPRTASRPVIVGSSNFRSKGRLPVLSYCQQGTEAAICRCSQPLSGFSARCLEDEHLLQAISKANPGNRYMYVVDTRPKLRMQSWWDTQKDIGRIIVRISSKIWNDEKIRESDEKKRLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGSKGLSVNDFYSGLESSGWLRHIKAVLDAAIFLAKAIVVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTMKGFMVLIEKDWISFGHKFSERCGHLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFNEAFLLQIHEHIHSCQFGNFLGNCQKEREELRLKEKTYSLWPFLLADKKKYLNPLYSSKSQRLTVLEPNTASFNFKFWRNMYHQFDRTLHPRQSVLNIIMNMNEQNKQLEEDVKDLEAKIKQCKSGILTKDLLHAVHPESPSLKTSLCLKEQSLLPVKDTLRAVEGSSPADNRYCDYTEEFSKSEPAVVSLEYGVARMTC", "length": 655, "header": "sp|A0A0G2JXT6-1|MTMR6_RAT Isoform 1 of Myotubularin-related protein 6 OS=Rattus norvegicus OX=10116 GN=Mtmr6 PE=1 SV=1 CANONICAL=A0A0G2JXT6-1" }, "locus": { "chromosome": "15", "start_pos": 34456103, "end_pos": 34420015, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000082665", "url": "https://www.ensembl.org/id/ENSRNOT00000082665" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070397", "url": "https://www.ensembl.org/id/ENSRNOP00000070397" } ] } }, { "isoform_ac": "A0A8I6AFC4-1", "url": "", "sequence": { "sequence": "MSFLGLEKSIYTTGLVEQVKLLDRFSTNNKSLTGTLYLTATHLLFIDAHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRIVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDTERLNGWQLIDLAAEYERMGVPNANWQLSDANREYKVCETYPRELYVPRTASRPVIVGSSNFRSKGRLPVLSYCQQGTEAAICRCSQPLSGFSARCLEDEHLLQAISKANPGNRYMYVVDTRPKLRMQSWWDTQKDIGRIIVRISSKIWNDEKIRESDEKKRLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGSKGLSVNDFYSGLESSGWLRHIKAVLDAAIFLAKAIVVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTMKGFMVLIEKDWISFGHKFSERCGHLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFNEAFLLQIHEHIHSCQFGNFLGNCQKEREELRLKEKTYSLWPFLLADKKKYLNPLYSSKSQRLTVLEPNTASFNFKFWRNMYHQFDRTLHPRQSVLNIIMNMNEQNKQLEEDVKDLEAKIKQCKSGILTKDLLHAVHPESPSLKTSLCLKEQSLLPVKDTLRAVEGSSPADNRYCDYTEEFSKSEPAVVSLEYGVARMTC", "length": 662, "header": "tr|A0A8I6AFC4-1|A0A8I6AFC4_RAT Computationally mapped isoform of phosphatidylinositol-3-phosphatase OS=Rattus norvegicus OX=10116 GN=Mtmr6 PE=1 SV=1 CANONICAL=A0A0G2JXT6-1" }, "locus": { "chromosome": "15", "start_pos": 34456103, "end_pos": 34432723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000111768.1", "url": "https://www.ensembl.org/id/ENSRNOT00000111768.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000091311.1", "url": "https://www.ensembl.org/id/ENSRNOP00000091311.1" } ] } }, { "isoform_ac": "D3ZC22-1", "url": "", "sequence": { "sequence": "MEHIRTTKVEQVKLLDRFSTNNKSLTGTLYLTATHLLFIDAHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRIVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDTERLNGWQLIDLAAEYERMGVPNANWQLSDANREYKVCETYPRELYVPRTASRPVIVGSSNFRSKGRLPVLSYCQQGTEAAICRCSQPLSGFSARCLEDEHLLQAISKANPGNRYMYVVDTRPKLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGSKGLSVNDFYSGLESSGWLRHIKAVLDAAIFLAKAIVVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTMKGFMVLIEKDWISFGHKFSERCGHLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFNEAFLLQIHEHIHSCQFGNFLGNCQKEREELRLKEKTYSLWPFLLADKKKYLNPLYSSKSQRLTVLEPNTASFNFKFWRNMYHQFDRTLHPRQSVLNIIMNMNEQNKQLEEDVKDLEAKIKQCKSGILTKDLLHAVHPESPSLKTSLCLKEQSLLPVKDTLRAVEGSSPADNRYCDYTEEFSKSEPAVVSLEYGVARMTC", "length": 617, "header": "tr|D3ZC22-1|D3ZC22_RAT Computationally mapped isoform of phosphatidylinositol-3-phosphatase OS=Rattus norvegicus OX=10116 GN=Mtmr6 PE=3 SV=2 CANONICAL=A0A0G2JXT6-1" }, "locus": { "chromosome": "15", "start_pos": 34456103, "end_pos": 34420015, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000065328.2", "url": "https://www.ensembl.org/id/ENSRNOT00000065328.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000062812.2", "url": "https://www.ensembl.org/id/ENSRNOP00000062812.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 108, "end_pos": 108, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "site_lbl": "Tyr108" }, { "start_pos": 595, "end_pos": 595, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "site_lbl": "Ser595" }, { "start_pos": 623, "end_pos": 623, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "site_lbl": "Ser623" }, { "start_pos": 645, "end_pos": 645, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "site_lbl": "Ser645" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Mochizuki Y, Ohashi R, Kawamura T, Iwanari H, Kodama T, Naito M, Hamakubo T", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "reference": [ { "type": "PubMed", "id": "23188820", "url": "https://glygen.org/publication/PubMed/23188820" } ] } ], "pathway": [ { "id": "rno:305935", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:305935", "resource": "KEGG Pathway" }, { "id": "R-RNO-1660499", "name": "Synthesis of PIPs at the plasma membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1660499", "resource": "Reactome", "description": "Synthesis of PIPs at the plasma membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8VE11-1", "protein_name": "Myotubularin-related protein 6", "gene_name": "Mtmr6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MEHIRTTKVEQVKLLDRFSTNNKSLTGTLYLTATHLLFIDAQQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRIVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDTERRNGWQLIDLAAEYERMGVPNANWQLSDANREYKVCETYPRELYVPRTASRPVIVGSSNFRSKGRLPVLSYCRQGTEAAICRCSQPLSGFSARCLEDEHLLQAISKANPGNRYMYVVDTRPKLNAIANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGSKGLSVNDFYSGLESSGWLRHIKAVLDAAIFLAKAIVVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTMKGFMVLIEKDWISFGHKFSERCGHLDGDPREVSPVFTQFLECVWHLTQQFPQAFEFNEAFLLQIHEHIHSCQFGNFLGNCQKEREELRLKEKTYSLWPFLLDDKKKYLNPLYSSKSQRLTVLEPNTASFNFKFWRNMYHQFDRTLHPRQSVLSIIMNMNEQSKQLEEDIKDLEAKIKQCKNGILTKELLHAVHPESPALKTSLCLKEPSLLPVKDTLRAIEGSSPADNRYCDYAEEFSKSEPTVVSLEYGVARMTC", "length": 617 }, "evidence": [ { "id": "45235857", "url": "http://www.informatics.jax.org/homology/45235857", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9Y217-1", "protein_name": "Myotubularin-related protein 6", "gene_name": "MTMR6", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MEHIRTTKVEQVKLLDRFSTSNKSLTGTLYLTATHLLFIDSHQKETWILHHHIASVEKLALTTSGCPLVIQCKNFRTVHFIVPRERDCHDIYNSLLQLSKQAKYEDLYAFSYNPKQNDSERLQGWQLIDLAEEYKRMGVPNSHWQLSDANRDYKICETYPRELYVPRIASKPIIVGSSKFRSKGRFPVLSYYHQDKEAAICRCSQPLSGFSARCLEDEHLLQAISKANPVNRYMYVMDTRPKLNAMANRAAGKGYENEDNYSNIRFQFVGIENIHVMRSSLQKLLEVNGTKGLSVNDFYSGLESSGWLRHIKAVMDAAIFLAKAITVENASVLVHCSDGWDRTSQVCSLGSLLLDSYYRTIKGFMVLIEKDWISFGHKFSERCGQLDGDPKEVSPVFTQFLECVWHLTEQFPQAFEFSEAFLLQIHEHIHSCQFGNFLGNCQKEREELKLKEKTYSLWPFLLEDQKKYLNPLYSSESHRFTVLEPNTVSFNFKFWRNMYHQFDRTLHPRQSVFNIIMNMNEQNKQLEKDIKDLESKIKQRKNKQTDGILTKELLHSVHPESPNLKTSLCFKEQTLLPVNDALRTIEGSSPADNRYSEYAEEFSKSEPAVVSLEYGVARMTC", "length": 621 }, "evidence": [ { "id": "45235857", "url": "http://www.informatics.jax.org/homology/45235857", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "phosphatidylinositol-3,5-bisphosphate phosphatase activity", "id": "GO:0106018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106018", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004438", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "id": "GO:0052629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052629", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment", "id": "GO:0005793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005793", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "dephosphorylation", "id": "GO:0016311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016311", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JXT6", "url": "https://www.uniprot.org/uniprot/A0A0G2JXT6" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 117, "end_pos": 119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 22, "end_pos": 24, "annotation": "n_glycosylation_sequon" }, { "start_pos": 298, "end_pos": 300, "annotation": "n_glycosylation_sequon" }, { "start_pos": 326, "end_pos": 328, "annotation": "n_glycosylation_sequon" }, { "start_pos": 367, "end_pos": 369, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "12316", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PQT2-1", "Q6AXQ4-1", "A0A0G2JXT6-1", "Q9ES21-1", "A0A8I5Y1D5-1", "A0A8I6AEZ2-1", "D3ZW40-1", "A0A8I5ZTB8-1", "Q9Y216-1", "Q13614-1", "Q9Y217-1", "Q13496-1", "Q13615-1", "Q13613-1", "Q96EF0-1", "Q9NTJ5-1", "Q9NYA4-1", "Q8VE11-1", "Q8K296-1", "Q9Z2C5-1", "Q9Z2C4-1", "Q9Z2D1-1", "Q9Z2C9-1", "Q9EP69-1", "P32368-1", "P47147-1", "Q54PL3-1", "Q54TD5-1", "Q54YC2-1", "Q1ZXD2-1", "Q55AW9-1", "Q9W0I6-1", "A1ZAS8-1", "Q7YU03-1", "Q8MLR7-1", "Q9VMI9-1" ], "evidence": [ { "id": "12316", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/12316" } ] }, { "id": "39019", "name": "", "equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PQT2-1", "Q6AXQ4-1", "A0A0G2JXT6-1", "A0A8I5Y1D5-1", "A0A8I5ZTB8-1", "Q13614-1", "Q9Y217-1", "Q13496-1", "Q13615-1", "Q13613-1", "Q96EF0-1", "Q8VE11-1", "Q8K296-1", "Q9Z2C5-1", "Q9Z2C4-1", "Q9Z2D1-1", "Q9VMI9-1" ], "evidence": [ { "id": "39019", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/39019" } ] }, { "id": "42328", "name": "", "equation": "1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PQT2-1", "Q6AXQ4-1", "A0A0G2JXT6-1", "A0A8I5Y1D5-1", "D3ZW40-1", "A0A8I5ZTB8-1", "Q13614-1", "Q9NYA4-1", "Q13615-1", "Q13613-1", "Q9Y217-1", "Q13496-1", "Q9Z2C5-1", "Q9Z2D1-1", "Q8K296-1", "Q9Z2C4-1", "Q8VE11-1", "Q7YU03-1", "Q8MLR7-1", "Q9VMI9-1" ], "evidence": [ { "id": "42328", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/42328" } ] }, { "id": "45632", "name": "", "equation": "1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AXQ4-1", "A0A0G2JXT6-1", "Q13614-1", "Q9Y217-1", "Q13496-1", "Q8VE11-1", "Q9Z2C5-1", "Q9Z2D1-1" ], "evidence": [ { "id": "45632", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/45632" } ] }, { "id": "R-RNO-1675994", "name": "PI3P is dephosphorylated to PI by SYNJ/MTMs at the plasma membrane", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-426658" ], "enzyme_list": [ "Q62910-1", "O55207-1", "A0A8I5Y1D5-1", "A0A0G2JXT6-1", "Q5PQT2-1", "Q6AXQ4-1" ], "evidence": [ { "id": "R-RNO-1675994", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1675994" } ] }, { "id": "R-RNO-1676203", "name": "PI(3,5)P2 is dephosphorylated to PI5P by SYNJ/MTMs at the plasma membrane", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [ "R-ALL-1806224" ], "output_participant_list": [ "R-ALL-1806240" ], "enzyme_list": [ "Q62910-1", "O55207-1", "A0A8I5Y1D5-1", "A0A0G2JXT6-1", "Q5PQT2-1", "Q6AXQ4-1" ], "evidence": [ { "id": "R-RNO-1676203", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1676203" } ] }, { "id": "R-RNO-6809309", "name": "MTMR6 binds MTMR9", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A0G2JXT6-1" ], "evidence": [ { "id": "R-RNO-6809309", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6809309" } ] }, { "id": "R-RNO-6809320", "name": "PI(3,5)P2 is dephosphorylated to PI5P by MTMR9-bound MTMR6 or MTMR8 at the plasma membrane", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A0G2JXT6-1" ], "evidence": [ { "id": "R-RNO-6809320", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6809320" } ] }, { "id": "R-RNO-6809325", "name": "PI3P is dephosphorylated to PI by MTMR9-bound MTMR8 or MTMR6 at the plasma membrane", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A0G2JXT6-1" ], "evidence": [ { "id": "R-RNO-6809325", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-6809325" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1806224", "participant_name": "PI(3,5)P2 [plasma membrane]", "crossref": [ { "id": "57923", "database": "ChEBI", "url": "" }, { "id": "57923", "database": "ChEBI", "url": "" }, { "id": "57923", "database": "ChEBI", "url": "" }, { "id": "57923", "database": "ChEBI", "url": "" }, { "id": "57923", "database": "ChEBI", "url": "" }, { "id": "57923", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-1806240", "participant_name": "PI5P [plasma membrane]", "crossref": [ { "id": "57795", "database": "ChEBI", "url": "" }, { "id": "57795", "database": "ChEBI", "url": "" }, { "id": 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