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InnateDB Protein
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IDBP-14523.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MTMR12
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Protein Name
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myotubularin related protein 12
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000371577
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InnateDB Gene
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IDBG-14517 (MTMR12)
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Protein Structure
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| Function |
Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location. {ECO:0000269PubMed:11504939, ECO:0000269PubMed:12847286}.
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| Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:12847286}. Note=Localizes to punctate vesicles when associated with MTM1.
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| Disease Associations |
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| Tissue Specificity |
Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung. {ECO:0000269PubMed:11504939}.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
5
[view]
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| Protein-Protein |
5
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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Molecular Function |
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR022587
Myotubularin-associated
IPR029021
Protein-tyrosine phosphatase-like
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| PFAM |
PF12578
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q9C0I1
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| PhosphoSite |
PhosphoSite-Q9C0I1
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| TrEMBL |
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| UniProt Splice Variant |
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| Entrez Gene |
54545
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| UniGene |
Hs.481836
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| RefSeq |
NP_001035536
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| HUGO |
HGNC:18191
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| OMIM |
606501
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| CCDS |
CCDS34138
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| HPRD |
05933
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| IMGT |
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| EMBL |
AB051469
AK000483
AL833231
AY028703
BC057393
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| GenPept |
AAH57393
AAK26171
BAA91195
BAB21773
CAH10604
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