Homo sapiens Gene: MTMR14
Summary
InnateDB Gene IDBG-15391.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MTMR14
Gene Name myotubularin related protein 14
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000163719
Encoded Proteins
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
myotubularin related protein 14
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:9649433-9702394
Strand Forward strand
Band p25.3
Transcripts
ENST00000296003 ENSP00000296003
ENST00000353332 ENSP00000323462
ENST00000351233 ENSP00000334070
ENST00000420925 ENSP00000401993
ENST00000447144 ENSP00000410761
ENST00000430020 ENSP00000392690
ENST00000416864 ENSP00000412644
ENST00000437997 ENSP00000408813
ENST00000449543 ENSP00000411417
ENST00000414996 ENSP00000392935
ENST00000431250 ENSP00000388746
ENST00000480578
ENST00000606184
ENST00000617504 ENSP00000478236
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
Cellular Component
GO:0001726 ruffle
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Synthesis of PIPs at the plasma membrane pathway
PI Metabolism pathway
Phospholipid metabolism pathway
Metabolism pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.475382
RefSeq NM_001077525 NM_001077526 NM_022485
HUGO
OMIM
CCDS CCDS43043 CCDS43044 CCDS43045
HPRD 08654
IMGT
EMBL
GenPept
RNA Seq Atlas