This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000063601 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000015214 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kioschis P, Wiemann S, Heiss NS, Francis F, Gotz C, Poustka A, Taudien S, Platzer M, Wiehe T, Beckmann G, Weber J, Nordsiek G, Rosenthal A (Jan 1999). "Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)". Genomics. 54 (2): 256–66. doi:10.1006/geno.1998.5560. PMID 9828128.
^ ab"Entrez Gene: MTMR1 myotubularin related protein 1".
Further readingedit
Laporte J, Hu LJ, Kretz C, et al. (1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.
Laporte J, Blondeau F, Buj-Bello A, et al. (1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
<Please add first missing authors to populate metadata.> (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
Laporte J, Blondeau F, Buj-Bello A, Mandel JL (2001). "The myotubularin family: from genetic disease to phosphoinositide metabolism". Trends Genet. 17 (4): 221–8. doi:10.1016/S0168-9525(01)02245-4. PMID 11275328.
Kim SA, Taylor GS, Torgersen KM, Dixon JE (2002). "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease". J. Biol. Chem. 277 (6): 4526–31. doi:10.1074/jbc.M111087200. PMID 11733541.
Laporte J, Liaubet L, Blondeau F, et al. (2002). "Functional redundancy in the myotubularin family". Biochem. Biophys. Res. Commun. 291 (2): 305–12. doi:10.1006/bbrc.2002.6445. PMID 11846405.
Buj-Bello A, Furling D, Tronchère H, et al. (2003). "Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells". Hum. Mol. Genet. 11 (19): 2297–307. doi:10.1093/hmg/11.19.2297. PMID 12217958.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.
mtmr1, myotubularin, related, protein, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes5c16identifiersaliases, myotubularin, related, protein, 1external, idsomim, 300171, 1858271, homologene, 2840, genecards. Myotubularin related protein 1 is a protein that in humans is encoded by the MTMR1 gene 5 6 MTMR1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes5C16IdentifiersAliasesMTMR1 myotubularin related protein 1External IDsOMIM 300171 MGI 1858271 HomoloGene 2840 GeneCards MTMR1EC number3 1 3 64Gene location Human Chr X chromosome human 1 BandXq28Start150 692 971 bp 1 End150 765 108 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX X A7 3Start70 408 366 bp 2 End70 462 802 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocytemiddle temporal gyrusBrodmann area 23thymusamniotic fluidpalpebral conjunctivahuman penishair follicleplacentathymusTop expressed intemporal muscletriceps brachii musclesternocleidomastoid musclesuperior frontal gyrusdigastric muscleesophaguslipknee jointcerebellar cortexquadriceps femoris muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionprotein tyrosine phosphatase activity phosphatase activity hydrolase activity protein homodimerization activity phosphatidylinositol 3 phosphatase activity phosphatidylinositol 3 5 bisphosphate 3 phosphatase activity phosphatidylinositol phosphate phosphatase activityCellular componentcytosol plasma membrane membrane cytoplasmBiological processphosphatidylinositol biosynthetic process peptidyl tyrosine dephosphorylation phosphatidylinositol dephosphorylation lipid metabolism dephosphorylation regulation of phosphatidylinositol dephosphorylationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez877653332EnsemblENSG00000063601ENSMUSG00000015214UniProtQ13613Q9Z2C4RefSeq mRNA NM 001306144NM 001306145NM 003828NM 176789NM 001353990NM 001353991NM 001353992NM 001353993NM 001353994NM 001353995NM 001353996NM 016985NM 001313702NM 001313703NM 001313706NM 001313707NM 001313704RefSeq protein NP 001293073NP 001293074NP 003819NP 001340919NP 001340920NP 001340921NP 001340922NP 001340923NP 001340924NP 001340925NP 001300631NP 001300632NP 001300633NP 001300635NP 001300636NP 058681Location UCSC Chr X 150 69 150 77 MbChr X 70 41 70 46 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse This gene encodes a member of the myotubularin related family of proteins Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases Alternatively spliced variants have been described but their biological validity has not been determined 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000063601 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000015214 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Kioschis P Wiemann S Heiss NS Francis F Gotz C Poustka A Taudien S Platzer M Wiehe T Beckmann G Weber J Nordsiek G Rosenthal A Jan 1999 Genomic organization of a 225 kb region in Xq28 containing the gene for X linked myotubular myopathy MTM1 and a related gene MTMR1 Genomics 54 2 256 66 doi 10 1006 geno 1998 5560 PMID 9828128 a b Entrez Gene MTMR1 myotubularin related protein 1 Further reading editLaporte J Hu LJ Kretz C et al 1996 A gene mutated in X linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast Nat Genet 13 2 175 82 doi 10 1038 ng0696 175 PMID 8640223 S2CID 30028223 Laporte J Blondeau F Buj Bello A et al 1998 Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human Hum Mol Genet 7 11 1703 12 doi 10 1093 hmg 7 11 1703 PMID 9736772 lt Please add first missing authors to populate metadata gt 1999 Toward a complete human genome sequence Genome Res 8 11 1097 108 doi 10 1101 gr 8 11 1097 PMID 9847074 Laporte J Blondeau F Buj Bello A Mandel JL 2001 The myotubularin family from genetic disease to phosphoinositide metabolism Trends Genet 17 4 221 8 doi 10 1016 S0168 9525 01 02245 4 PMID 11275328 Kim SA Taylor GS Torgersen KM Dixon JE 2002 Myotubularin and MTMR2 phosphatidylinositol 3 phosphatases mutated in myotubular myopathy and type 4B Charcot Marie Tooth disease J Biol Chem 277 6 4526 31 doi 10 1074 jbc M111087200 PMID 11733541 Laporte J Liaubet L Blondeau F et al 2002 Functional redundancy in the myotubularin family Biochem Biophys Res Commun 291 2 305 12 doi 10 1006 bbrc 2002 6445 PMID 11846405 Buj Bello A Furling D Tronchere H et al 2003 Muscle specific alternative splicing of myotubularin related 1 gene is impaired in DM1 muscle cells Hum Mol Genet 11 19 2297 307 doi 10 1093 hmg 11 19 2297 PMID 12217958 Strausberg RL Feingold EA Grouse LH et al 2003 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 nbsp This article on a gene on the human X chromosome and or its associated protein is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MTMR1 amp oldid 1108536592, wikipedia, wiki, book, books, library,
