Homo sapiens Protein: MTMR12
Summary
InnateDB Protein IDBP-14523.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTMR12
Protein Name myotubularin related protein 12
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000371577
InnateDB Gene IDBG-14517 (MTMR12)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:12847286}. Note=Localizes to punctate vesicles when associated with MTM1.
Disease Associations
Tissue Specificity Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung. {ECO:0000269PubMed:11504939}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0016791 phosphatase activity
Biological Process
GO:0016311 dephosphorylation
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR022587 Myotubularin-associated
IPR029021 Protein-tyrosine phosphatase-like
PFAM PF12578
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9C0I1
PhosphoSite PhosphoSite-Q9C0I1
TrEMBL
UniProt Splice Variant
Entrez Gene 54545
UniGene Hs.481836
RefSeq NP_001035536
HUGO HGNC:18191
OMIM 606501
CCDS CCDS34138
HPRD 05933
IMGT
EMBL AB051469 AK000483 AL833231 AY028703 BC057393
GenPept AAH57393 AAK26171 BAA91195 BAB21773 CAH10604