MTMR14
| Myotubularin related protein 14 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | MTMR14 ; C3orf29 | ||||||||||||
| External IDs | OMIM: 611089 MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14 Gene | ||||||||||||
| |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 64419 | 97287 | |||||||||||
| Ensembl | ENSG00000163719 | ENSMUSG00000030269 | |||||||||||
| UniProt | Q8NCE2 | Q8VEL2 | |||||||||||
| RefSeq (mRNA) | NM_001077525 | NM_026849 | |||||||||||
| RefSeq (protein) | NP_001070993 | NP_081125 | |||||||||||
| Location (UCSC) |
Chr 3: 9.65 – 9.7 Mb |
Chr 6: 113.24 – 113.28 Mb | |||||||||||
| PubMed search | |||||||||||||
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[1]
Function
Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.[2]
Clinical significance
Mutations in the MTMR14 gene are associated with myotubular myopathy.[2]
References
- ↑ 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.
- 1 2 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.
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