MTMR1

Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.[5][6]

MTMR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5C16
Identifiers
Aliases	MTMR1, myotubularin related protein 1
External IDs	OMIM: 300171 MGI: 1858271 HomoloGene: 2840 GeneCards: MTMR1
EC number	3.1.3.64
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 150,692,971 bp[1] End 150,765,108 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A7.3 Start 71,364,760 bp[2] End 71,419,196 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • protein tyrosine phosphatase activity • phosphatase activity • hydrolase activity • protein homodimerization activity • phosphatidylinositol-3-phosphatase activity • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity • phosphatidylinositol phosphate phosphatase activity Cellular component • cytosol • cell membrane • membrane • cytoplasm Biological process • phosphatidylinositol biosynthetic process • peptidyl-tyrosine dephosphorylation • phosphatidylinositol dephosphorylation • lipid metabolism • dephosphorylation • regulation of phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8776	53332
Ensembl	ENSG00000063601	ENSMUSG00000015214
UniProt	Q13613	Q9Z2C4
RefSeq (mRNA)	NM_001306144 NM_001306145 NM_003828 NM_176789 NM_001353990 NM_001353991 NM_001353992 NM_001353993 NM_001353994 NM_001353995 NM_001353996	NM_016985 NM_001313702 NM_001313703 NM_001313706 NM_001313707 NM_001313704
RefSeq (protein)	NP_001293073 NP_001293074 NP_003819 NP_001340919 NP_001340920 NP_001340921 NP_001340922 NP_001340923 NP_001340924 NP_001340925	NP_001300631 NP_001300632 NP_001300633 NP_001300635 NP_001300636 NP_058681
Location (UCSC)	Chr X: 150.69 – 150.77 Mb	Chr X: 71.36 – 71.42 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/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

1. GRCh38: Ensembl release 89: ENSG00000063601 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000015214 - 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. 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.
6. "Entrez Gene: MTMR1 myotubularin related protein 1".

Further reading

• 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.
• 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. 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.