Version 5.4
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
IDBP-15393
myotubularin related protein 14
IDBP-15397
myotubularin related protein 14
IDBP-15399
myotubularin related protein 14
IDBP-361504
myotubularin related protein 14
IDBP-361541
myotubularin related protein 14
IDBP-361558
myotubularin related protein 14
IDBP-361563
myotubularin related protein 14
IDBP-361566
myotubularin related protein 14
IDBP-361572
myotubularin related protein 14
IDBP-361576
myotubularin related protein 14
IDBP-361579
myotubularin related protein 14
IDBP-809472
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
ENSMUSG00000030269
View Gene Order
ENSBTAG00000009765
Not yet available
Pathways
NETPATH
REACTOME
REACT_121025
Synthesis of PIPs at the plasma membrane pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_121175
PI Metabolism pathway
REACT_120870
Phospholipid metabolism pathway
REACT_111217
Metabolism pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B4DQK9
UniProt Splice Variant
Entrez Gene 64419
UniGene Hs.475382
RefSeq NM_001077525 NM_001077526 NM_022485
HUGO HGNC:26190
OMIM 611089
CCDS CCDS43043 CCDS43044 CCDS43045
HPRD 08654
IMGT
EMBL AC022382 AC024163 AK298846
GenPept BAG60971
RNA Seq Atlas 64419

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca