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)
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; ; 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

Last updated March 05, 2023

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]

Related Research Articles

ABCD1 is a protein that transfers fatty acids into peroxisomes.

Myotubularin is a protein that in humans is encoded by the MTM1 gene.

Zinc finger protein 281 is a protein that in humans is encoded by the ZNF281 gene.

Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain InterPro: IPR004182. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate. Mutations in gene encoding myotubularin-related proteins have been associated with disease.

Myotubularin-related protein 6 is a protein that in humans is encoded by the MTMR6 gene.

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.

Tyrosine-protein phosphatase non-receptor type 9 is an enzyme that in humans is encoded by the PTPN9 gene.

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.

Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene.

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

Dual specificity protein phosphatase 12 is an enzyme that in humans is encoded by the DUSP12 gene.

Dual specificity protein phosphatase 15 is an enzyme that in humans is encoded by the DUSP15 gene.

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.

Dual specificity protein phosphatase 23, also known as low molecular mass dual specificity phosphatase 3 (LDP-3), is an enzyme that in humans is encoded by the DUSP23 gene.

Myotubularin related protein 12 is a protein that in humans is encoded by the MTMR12 gene.

Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.

Dual specificity phosphatase 8 is a protein that in humans is encoded by the DUSP8 gene.

GRAM domain containing 1A also known as Aster-A is a protein that is encoded by the GRAMD1A gene. It contains a transmembrane region, a GRAM domain and a VASt domain that can bind cholesterol. GRAMD1A has four paralogs: GRAMD1B and GRAMD1C and two without VASt domains, GRAMD2A and GRAMD2B. These proteins are mammalian representatives of the yeast lipid transfer proteins anchored at a membrane contact site (LAM) family.

Inositol polyphosphate-5-phosphatase F is a protein that in humans is encoded by the INPP5F gene.

GRAM domain-containing 2A protein is a protein encoded by the GRAMD2A gene. Like GRAMD2B, the protein consists of a GRAM domain and a transmembrane domain that anchors it to the endoplasmic reticulum.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017
1 2 3 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.
1 2 "Entrez Gene: MTMR3 myotubularin related protein 3".

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000100330 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 "Entrez Gene: MTMR3 myotubularin related protein 3".

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