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; OMA:MTMR1 - orthologs
EC number	3.1.3.64
Gene location (Human)
Chr.	X chromosome (human)
End	150,765,108 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	70,462,802 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; buccal mucosa cell; ; gingival epithelium; ; middle temporal gyrus; ; skin of thigh; ; epithelium of nasopharynx; ; Brodmann area 23; ; thymus; ; amniotic fluid; ; palpebral conjunctiva;
	Top expressed in
	muscle of thigh; ; neural layer of retina; ; temporal muscle; ; triceps brachii muscle; ; dentate gyrus of hippocampal formation granule cell; ; sternocleidomastoid muscle; ; superior frontal gyrus; ; digastric muscle; ; primary visual cortex; ; esophagus;
	More reference expression data
	; ; ; ;
	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
	8776
	53332
	ENSG00000063601
	ENSMUSG00000015214
	Q13613
	Q9Z2C4
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
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
	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

^ ^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".

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.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000063601 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9828128-5] 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.

[entrez-6] "Entrez Gene: MTMR1 myotubularin related protein 1".

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References

Further reading