InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MTMR14

Summary

InnateDB Protein

IDBP-15399.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MTMR14

Protein Name

myotubularin related protein 14

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000334070

InnateDB Gene

IDBG-15391 (MTMR14)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17008356}. Note=Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.

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}.

Tissue Specificity

Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas. {ECO:0000269PubMed:17008356}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004438	phosphatidylinositol-3-phosphatase activity
GO:0004725	protein tyrosine phosphatase activity

Biological Process

GO:0006644	phospholipid metabolic process
GO:0006661	phosphatidylinositol biosynthetic process
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0044281	small molecule metabolic process