MTMR3

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

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] Band 22q12.2 Start 29,883,155 bp[1] End 30,030,866 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 A1 Start 4,480,868 bp[2] End 4,594,863 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • phosphoprotein phosphatase activity • metal ion binding • protein tyrosine phosphatase activity • hydrolase activity • GO:0001948 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
Species	Human	Mouse
Entrez	8897	74302
Ensembl	ENSG00000100330	ENSMUSG00000034354
UniProt	Q13615	Q8K296
RefSeq (mRNA)	NM_001013676 NM_021090 NM_153050 NM_153051	NM_028860 NM_001373897
RefSeq (protein)	NP_066576 NP_694690 NP_694691 NP_694691.1	NP_083136 NP_001360826
Location (UCSC)	Chr 22: 29.88 – 30.03 Mb	Chr 11: 4.48 – 4.59 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

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