MTMR1

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 70,408,366 bp [2] End 70,462,802 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte middle temporal gyrus Brodmann area 23 thymus amniotic fluid palpebral conjunctiva human penis hair follicle placenta thymus Top expressed in temporal muscle triceps brachii muscle sternocleidomastoid muscle superior frontal gyrus digastric muscle esophagus lip knee joint cerebellar cortex quadriceps femoris muscle More reference expression data BioGPS 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 plasma 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: 70.41 – 70.46 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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 . 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.