MTMR14

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[5]

MTMR14
Identifiers
Aliases	MTMR14, C3orf29, myotubularin related protein 14
External IDs	OMIM: 611089 MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.3 Start 9,649,433 bp[1] End 9,702,393 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E3 Start 113,237,843 bp[2] End 113,281,392 bp[2]
Gene ontology Molecular function • protein tyrosine phosphatase activity • GO:0001948 protein binding • hydrolase activity • phosphatidylinositol-3-phosphatase activity • protein serine/threonine phosphatase activity • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Cellular component • ruffle • perinuclear region of cytoplasm • cytoplasm • cytosol Biological process • phosphatidylinositol biosynthetic process • peptidyl-tyrosine dephosphorylation • macroautophagy • dephosphorylation • protein dephosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	64419	97287
Ensembl	ENSG00000163719	ENSMUSG00000030269
UniProt	Q8NCE2	Q8VEL2
RefSeq (mRNA)	NM_001077525 NM_001077526 NM_022485	NM_026849 NM_001362182 NM_001362183 NM_001362185
RefSeq (protein)	NP_001070993 NP_001070994 NP_071930	NP_081125 NP_001349111 NP_001349112 NP_001349114
Location (UCSC)	Chr 3: 9.65 – 9.7 Mb	Chr 6: 113.24 – 113.28 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P2.[6]

Clinical significance

Mutations in the MTMR14 gene are associated with myotubular myopathy.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000163719 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030269 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004). "Protein tyrosine phosphatases in the human genome". Cell. 117 (6): 699–711. doi:10.1016/j.cell.2004.05.018. PMID 15186772.
6. Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006). "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106. doi:10.1093/hmg/ddl250. PMID 17008356.

Further reading

• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.