InnateDB Protein
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IDBP-15399.7
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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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MTMR14
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Protein Name
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myotubularin related protein 14
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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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ENSP00000334070
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InnateDB Gene
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IDBG-15391 (MTMR14)
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Protein Structure
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Function |
Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. {ECO:0000269PubMed:17008356}.
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Subcellular Localization |
Cytoplasm {ECO:0000269PubMed:17008356}. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.
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Disease Associations |
Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. {ECO:0000269PubMed:17008356}. Note=The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease- associated mutation in DNM2 (PubMed:17008356). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (PubMed:17008356). {ECO:0000269PubMed:17008356}.
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Tissue Specificity |
Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. {ECO:0000269PubMed:17008356}.
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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 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[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 |
Accession |
GO Term |
GO:0004438
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phosphatidylinositol-3-phosphatase activity
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GO:0004725
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protein tyrosine phosphatase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR029021
Protein-tyrosine phosphatase-like
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PFAM |
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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 |
Q8NCE2
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PhosphoSite |
PhosphoSite-Q8NCE2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
64419
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UniGene |
Hs.475382
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RefSeq |
NP_071930
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HUGO |
HGNC:26190
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OMIM |
611089
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CCDS |
CCDS43045
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HPRD |
08654
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IMGT |
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EMBL |
AK026058
AK074792
AL713695
AM393050
AM393309
AY545552
BC001674
BC025952
BC035690
BC050626
DQ630520
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GenPept |
AAH01674
AAH25952
AAH35690
AAH50626
AAS50151
ABG02221
BAB15340
BAC11211
CAD28494
CAL37928
CAL38187
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