MTMR3

MTMR3
Identifiers
Aliases	MTMR3, FYVE-DSP1, ZFYVE10, myotubularin related protein 3
External IDs	OMIM: 603558; MGI: 1921552; HomoloGene: 23662; GeneCards: MTMR3; OMA:MTMR3 - orthologs
EC number	3.1.3.95
Gene location (Human)
Chr.	Chromosome 22 (human)
End	30,030,868 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	4,544,863 bp
RNA expression pattern
	Top expressed in
	oocyte; ; secondary oocyte; ; blood; ; bone marrow cells; ; right uterine tube; ; skin of leg; ; monocyte; ; sural nerve; ; Achilles tendon; ; amniotic fluid;
	Top expressed in
	blood; ; vestibular membrane of cochlear duct; ; granulocyte; ; transitional epithelium of urinary bladder; ; ciliary body; ; facial motor nucleus; ; ankle; ; iris; ; substantia nigra; ; epithelium of lens;
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100330 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "Entrez Gene: MTMR3 myotubularin related protein 3".

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

[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".

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