MTMR3: Difference between revisions

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{{Infobox_gene}}
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'''Myotubularin-related protein 3''' is a [[protein]] that in humans is encoded by the ''MTMR3'' [[gene]].<ref name="pmid8640223">{{cite journal |vauthors=Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N | title = A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast | journal = Nat Genet | volume = 13 | issue = 2 | pages = 175–82 |date=Jul 1996 | pmid = 8640223 | pmc =  | doi = 10.1038/ng0696-175 }}</ref><ref name="pmid9736772">{{cite journal |vauthors=Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL | title = Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human | journal = Hum Mol Genet | volume = 7 | issue = 11 | pages = 1703–12 |date=Dec 1998 | pmid = 9736772 | pmc =  | doi 10.1093/hmg/7.11.1703}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MTMR3 myotubularin related protein 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8897| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Myotubularin related protein 3
| HGNCid = 7451
| Symbol = MTMR3
| AltSymbols =; FYVE-DSP1; KIAA0371; ZFYVE10
| OMIM = 603558
| ECnumber = 
| Homologene = 23662
| MGIid = 1921552
| GeneAtlas_image1 = PBB_GE_MTMR3_202197_at_tn.png
| GeneAtlas_image2 = PBB_GE_MTMR3_202198_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_MTMR3_211507_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004437 |text = inositol or phosphatidylinositol phosphatase activity}} {{GNF_GO|id=GO:0004722 |text = protein serine/threonine phosphatase activity}} {{GNF_GO|id=GO:0004725 |text = protein tyrosine phosphatase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
  | Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
| Process = {{GNF_GO|id=GO:0006470 |text = protein amino acid dephosphorylation}} {{GNF_GO|id=GO:0046839 |text = phospholipid dephosphorylation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8897
    | Hs_Ensembl = ENSG00000100330
    | Hs_RefseqProtein = NP_066576
    | Hs_RefseqmRNA = NM_021090
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 28609199
    | Hs_GenLoc_end = 28753869
    | Hs_Uniprot = Q13615
    | Mm_EntrezGene = 74302
    | Mm_Ensembl = ENSMUSG00000034354
    | Mm_RefseqmRNA = NM_028860
    | Mm_RefseqProtein = NP_083136
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 4382771
    | Mm_GenLoc_end = 4428409
    | Mm_Uniprot = Q5NCA1
  }}
}}
'''Myotubularin related protein 3''', also known as '''MTMR3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MTMR3 myotubularin related protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8897| accessdate = }}</ref>


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{{PBB_Summary
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| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: MTMR3 myotubularin related protein 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8897| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}


==References==
==References==
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{{Protein tyrosine phosphatases}}
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Latest revision as of 02:19, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.[1][2][3]

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.[3]

References

  1. 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.
  2. 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.
  3. 3.0 3.1 "Entrez Gene: MTMR3 myotubularin related protein 3".