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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