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Details on Person UniProt:Q9C0I1 MTMR12
| Class:Id | ReferenceGeneProduct:238089 |
|---|---|
| _chainChangeLog | chain:1-747 added on Fri February 6 2015 |
| _displayName | UniProt:Q9C0I1 MTMR12 |
| _timestamp | 2024-11-03 20:10:53 |
| chain | chain:1-747 |
| checksum | 1D11A678CC92F70B |
| comment | FUNCTION Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).SUBUNIT Heterodimer with lipid phosphatase MTM1 (PubMed:12847286, PubMed:23818870). Heterodimer with lipid phosphatase MTMR2 (PubMed:12847286).INTERACTION Localizes to punctate vesicles when associated with MTM1 (PubMed:12847286). Localizes to triads, a structure formed by a T tubule and two sarcoplasmic reticulum terminal cisterna (By similarity). In skeletal muscles, co-localizes with MTM1 in the sarcomere (By similarity). Partially localizes to the sarcoplasmic reticulum in skeletal muscles (By similarity).ALTERNATIVE PRODUCTS Expressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939).SIMILARITY Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.CAUTION Although it belongs to the non-receptor class myotubularin subfamily, lacks the conserved active site cysteine residue at position 391 in the dsPTPase catalytic loop and does not have phosphatase activity. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Myotubularin-related protein 12 alternativeName: fullName evidence="9"Inactive phosphatidylinositol 3-phosphatase 12 alternativeName: Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit shortName: 3-PAP shortName: 3-phosphatase adapter protein |
| geneName | MTMR12 KIAA1682 PIP3AP |
| identifier | Q9C0I1 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Cytoplasm Phosphoprotein Proteomics identification Reference proteome Sarcoplasmic reticulum |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | MTMR12 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9003661] ENSEMBL:ENSG00000150712 MTMR12 [Homo sapiens] |
| secondaryIdentifier | MTMRC_HUMAN Q69YJ4 Q6PFW3 Q96QU2 Q9NX27 |
| sequenceLength | 747 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:238090] UniProt:Q9C0I1-2 MTMR12 [Homo sapiens] [ReferenceIsoform:238091] UniProt:Q9C0I1-3 MTMR12 [Homo sapiens] [ReferenceIsoform:413619] UniProt:Q9C0I1-1 MTMR12 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:6809657] MTMR12 [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9C0I1 MTMR12 (238089)
