MTMR3

MTMR3
Identifiers
Aliases	MTMR3, FYVE-DSP1, ZFYVE10, myotubularin related protein 3
External IDs	OMIM: 603558 MGI: 1921552 HomoloGene: 23662 GeneCards: MTMR3
EC number	3.1.3.95
Gene location (Human)
Chr.	Chromosome 22 (human)[1]
End	30,030,868 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	4,544,863 bp[2]
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; blood; ; bone marrow cells; ; right uterine tube; ; monocyte; ; sural nerve; ; Achilles tendon; ; amniotic fluid; ; right lung;
	Top expressed in
	blood; ; ciliary body; ; facial motor nucleus; ; ankle; ; iris; ; substantia nigra; ; triceps brachii muscle; ; hair follicle; ; interventricular septum; ; conjunctival fornix;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	phosphoprotein phosphatase activity; metal ion binding; protein tyrosine phosphatase activity; hydrolase activity; protein binding; protein serine/threonine phosphatase activity; phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; protein phosphatase binding;
Cellular component	cytoplasm; cytosol; membrane; extrinsic component of membrane; nucleoplasm;
Biological process	cellular response to glucose starvation; lipid metabolism; protein dephosphorylation; regulation of autophagosome assembly; phosphatidylinositol dephosphorylation; phosphatidylinositol biosynthetic process; macroautophagy; dephosphorylation; peptidyl-tyrosine dephosphorylation; phosphatidylinositol 5-phosphate metabolic process; regulation of phosphatidylinositol dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	8897
	74302
	ENSG00000100330
	ENSMUSG00000034354
	Q13615
	Q8K296
	NM_001013676; NM_021090; NM_153050; NM_153051
	NM_028860; NM_001373897
	NP_066576; NP_694690; NP_694691; NP_694691.1
	NP_083136; NP_001360826
	Wikidata
View/Edit Human	View/Edit Mouse

Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.[5][6][7]

This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene.[7]

References

GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000034354 - 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.
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 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, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 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.
"Entrez Gene: MTMR3 myotubularin related protein 3".

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034354 - 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.

[pmid8640223-5] Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 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.

[pmid9736772-6] Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 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.

[entrez-7] "Entrez Gene: MTMR3 myotubularin related protein 3".