NP_001070993.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
72,203 Da
NCBI Official Full Name
myotubularin-related protein 14 isoform 2
NCBI Official Synonym Full Names
myotubularin related protein 14
NCBI Official Synonym Symbols
NCBI Protein Information
myotubularin-related protein 14; jumpy; NS5ATP4ABP1; egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
UniProt Protein Name
Myotubularin-related protein 14
UniProt Synonym Protein Names
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; NS5ATP4ABP1; hJumpy
UniProt Synonym Gene Names
UniProt Entry Name
MTMRE_HUMAN
NCBI Summary for MTMR14
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
UniProt Comments for MTMR14
MTMR14: 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. Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.3.-; Phosphatase, lipid; Protein phosphatase, tyrosine (non-receptor)
Chromosomal Location of Human Ortholog: 3p26
Cellular Component: ruffle; perinuclear region of cytoplasm; cytosol
Molecular Function: phosphatidylinositol-3-phosphatase activity; protein tyrosine phosphatase activity
Biological Process: phospholipid metabolic process; phosphatidylinositol biosynthetic process
Disease: Myopathy, Centronuclear, 1
Research Articles on MTMR14
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Pathways associated with MTMR14 elisa kit
Diseases associated with MTMR14 elisa kit
Organs/Tissues associated with MTMR14 elisa kit
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