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Q9Z2D1

- MTMR2_MOUSE

UniProt

Q9Z2D1 - MTMR2_MOUSE

Protein

Myotubularin-related protein 2

Gene

Mtmr2

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 3 (27 Jul 2011)
      Previous versions | rss
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    Functioni

    Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. Binds phosphatidylinositol 4-phosphate, hosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate.1 Publication

    Enzyme regulationi

    interaction with SBF1 increases phosphatase activity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei417 – 4171Phosphocysteine intermediate
    Binding sitei463 – 4631SubstrateBy similarity

    GO - Molecular functioni

    1. phosphatidylinositol phosphate phosphatase activity Source: MGI
    2. protein homodimerization activity Source: MGI
    3. protein tyrosine phosphatase activity Source: InterPro

    GO - Biological processi

    1. dendritic spine maintenance Source: Ensembl
    2. dephosphorylation Source: MGI
    3. inositol phosphate dephosphorylation Source: MGI
    4. myelin assembly Source: MGI
    5. negative regulation of excitatory postsynaptic membrane potential Source: Ensembl
    6. negative regulation of myelination Source: MGI
    7. negative regulation of receptor catabolic process Source: Ensembl
    8. negative regulation of receptor internalization Source: Ensembl
    9. neuron development Source: MGI
    10. phosphatidylinositol dephosphorylation Source: MGI
    11. phosphatidylinositol metabolic process Source: MGI
    12. positive regulation of early endosome to late endosome transport Source: Ensembl
    13. protein tetramerization Source: MGI

    Keywords - Molecular functioni

    Hydrolase

    Enzyme and pathway databases

    ReactomeiREACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early endosome membrane.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myotubularin-related protein 2 (EC:3.1.3.-)
    Gene namesi
    Name:Mtmr2
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 9

    Organism-specific databases

    MGIiMGI:1924366. Mtmr2.

    Subcellular locationi

    Cytoplasm 1 Publication. Early endosome membrane By similarity; Peripheral membrane protein By similarity
    Note: Partly associated with membranes.

    GO - Cellular componenti

    1. axon Source: Ensembl
    2. cytoplasm Source: MGI
    3. cytosol Source: Ensembl
    4. dendritic spine Source: Ensembl
    5. early endosome membrane Source: UniProtKB-SubCell
    6. neuronal postsynaptic density Source: Ensembl
    7. nucleus Source: Ensembl
    8. synaptic membrane Source: Ensembl
    9. synaptic vesicle Source: Ensembl
    10. vacuolar membrane Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Endosome, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi103 – 1031G → E: Severely impaired interaction with membranes and strongly reduced catalytic activity. 2 Publications
    Mutagenesisi417 – 4171C → A: Loss of activity. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 643643Myotubularin-related protein 2PRO_0000094935Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei6 – 61Phosphoserine1 Publication
    Modified residuei58 – 581PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9Z2D1.
    PaxDbiQ9Z2D1.
    PRIDEiQ9Z2D1.

    PTM databases

    PhosphoSiteiQ9Z2D1.

    Expressioni

    Tissue specificityi

    Detected in fetal forebrain, dorsal root ganglia, trigeminal ganglia, kidney, adrenal gland and lung. Detected in adult dorsal root ganglia, neurons of the central nervous system, motor neurons, cell soma and neurites of sensory neurons, olfactory bulb, cerebellum and hippocampus.1 Publication

    Gene expression databases

    BgeeiQ9Z2D1.
    CleanExiMM_MTMR2.
    GenevestigatoriQ9Z2D1.

    Interactioni

    Subunit structurei

    Homooligomer and heterooligomer. Interacts with SBF1 and SBF2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi218525. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Z2D1.
    SMRiQ9Z2D1. Positions 73-585.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini68 – 13972GRAMAdd
    BLAST
    Domaini205 – 580376Myotubularin phosphatasePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni330 – 3334Substrate bindingBy similarity
    Regioni355 – 3562Substrate bindingBy similarity
    Regioni417 – 4237Substrate bindingBy similarity

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili593 – 62735By similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi4 – 5350Ser-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 GRAM domain.Curated
    Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG322789.
    GeneTreeiENSGT00670000097670.
    HOGENOMiHOG000210598.
    HOVERGENiHBG000220.
    InParanoidiQ9Z2D1.
    KOiK18081.
    OMAiPENGWKV.
    OrthoDBiEOG7XDBF9.
    TreeFamiTF315197.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    InterProiIPR004182. GRAM.
    IPR010569. Myotubularin-like_Pase_dom.
    IPR011993. PH_like_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR000387. Tyr/Dual-sp_Pase.
    IPR016130. Tyr_Pase_AS.
    [Graphical view]
    PfamiPF02893. GRAM. 1 hit.
    PF06602. Myotub-related. 1 hit.
    [Graphical view]
    SMARTiSM00568. GRAM. 1 hit.
    [Graphical view]
    SUPFAMiSSF52799. SSF52799. 1 hit.
    PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS00383. TYR_PHOSPHATASE_1. 1 hit.
    PS50056. TYR_PHOSPHATASE_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Z2D1-1 [UniParc]FASTAAdd to Basket

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    MEKSSSCESL GAQLPAARLP SEDSLSSAST SHSENSVHTK SASAISSDSI    50
    STSADNFSPD LRVLREANKL AEMEEPALLP GENIKDMAKD VTYICPFTGA 100
    VRGTLTVTSY RLYFKSMERD PPFVLDASLG VISRVEKIGG ASSRGENSYG 150
    LETVCKDIRN LRFAHKPEGR TRRSIFENLM KYAFPVSNGL PLFAFEYKEV 200
    FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY PALLVVPANI 250
    PDEELKRVAS FRSRGRIPVL SWIHPESQAT VTRCSQPMVG VSGKRSKEDE 300
    KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF 350
    LDIHNIHVMR ESLRKLKEIV YPTIEETHWL SNLESTHWLE HIKLILAGAL 400
    RIADKVESGK TSVVVHCSDG WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE 450
    KEWLSFGHRF QLRVGHGDKN HADADRSPVF LQFIDCVWQM TRQFPTAFEF 500
    NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKKTVSL WSYINSQLED 550
    FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHSRYKEL 600
    LAKRAELQRK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV 643
    Length:643
    Mass (Da):73,232
    Last modified:July 27, 2011 - v3
    Checksum:iFD4E43867CBB9864
    GO

    Sequence cautioni

    The sequence AAC80002.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY055832 mRNA. Translation: AAL14198.1.
    CT010488 Genomic DNA. Translation: CAX15666.1.
    CH466522 Genomic DNA. Translation: EDL24975.1.
    AF073880 mRNA. Translation: AAC80002.1. Different initiation.
    CCDSiCCDS22818.3.
    RefSeqiNP_076347.3. NM_023858.3.
    UniGeneiMm.210405.

    Genome annotation databases

    EnsembliENSMUST00000034396; ENSMUSP00000034396; ENSMUSG00000031918.
    GeneIDi77116.
    KEGGimmu:77116.
    UCSCiuc009odz.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY055832 mRNA. Translation: AAL14198.1 .
    CT010488 Genomic DNA. Translation: CAX15666.1 .
    CH466522 Genomic DNA. Translation: EDL24975.1 .
    AF073880 mRNA. Translation: AAC80002.1 . Different initiation.
    CCDSi CCDS22818.3.
    RefSeqi NP_076347.3. NM_023858.3.
    UniGenei Mm.210405.

    3D structure databases

    ProteinModelPortali Q9Z2D1.
    SMRi Q9Z2D1. Positions 73-585.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 218525. 1 interaction.

    PTM databases

    PhosphoSitei Q9Z2D1.

    Proteomic databases

    MaxQBi Q9Z2D1.
    PaxDbi Q9Z2D1.
    PRIDEi Q9Z2D1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000034396 ; ENSMUSP00000034396 ; ENSMUSG00000031918 .
    GeneIDi 77116.
    KEGGi mmu:77116.
    UCSCi uc009odz.2. mouse.

    Organism-specific databases

    CTDi 8898.
    MGIi MGI:1924366. Mtmr2.

    Phylogenomic databases

    eggNOGi NOG322789.
    GeneTreei ENSGT00670000097670.
    HOGENOMi HOG000210598.
    HOVERGENi HBG000220.
    InParanoidi Q9Z2D1.
    KOi K18081.
    OMAi PENGWKV.
    OrthoDBi EOG7XDBF9.
    TreeFami TF315197.

    Enzyme and pathway databases

    Reactomei REACT_198972. Synthesis of PIPs at the late endosome membrane.
    REACT_198975. Synthesis of PIPs at the early endosome membrane.

    Miscellaneous databases

    NextBioi 346504.
    PROi Q9Z2D1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Z2D1.
    CleanExi MM_MTMR2.
    Genevestigatori Q9Z2D1.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    InterProi IPR004182. GRAM.
    IPR010569. Myotubularin-like_Pase_dom.
    IPR011993. PH_like_dom.
    IPR029021. Prot-tyrosine_phosphatase-like.
    IPR000387. Tyr/Dual-sp_Pase.
    IPR016130. Tyr_Pase_AS.
    [Graphical view ]
    Pfami PF02893. GRAM. 1 hit.
    PF06602. Myotub-related. 1 hit.
    [Graphical view ]
    SMARTi SM00568. GRAM. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52799. SSF52799. 1 hit.
    PROSITEi PS51339. PPASE_MYOTUBULARIN. 1 hit.
    PS00383. TYR_PHOSPHATASE_1. 1 hit.
    PS50056. TYR_PHOSPHATASE_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization and expression analysis of Mtmr2, mouse homolog of MTMR2, the myotubularin-related 2 gene, mutated in CMT4B."
      Bolino A., Marigo V., Loader J., Romio L., Leoni A., Di Duca M., Cinti R., Feltri M.L., Wrabetz L., Ravazzolo R., Monaco A.P.
      Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    3. Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human."
      Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L.
      Hum. Mol. Genet. 7:1703-1712(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-225.
    5. "Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1."
      Berger P., Bonneick S., Willi S., Wymann M., Suter U.
      Hum. Mol. Genet. 11:1569-1579(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF GLY-103, TISSUE SPECIFICITY.
    6. "Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module."
      Berger P., Schaffitzel C., Berger I., Ban N., Suter U.
      Proc. Natl. Acad. Sci. U.S.A. 100:12177-12182(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-103 AND CYS-417, SUBUNIT.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-6, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.

    Entry informationi

    Entry nameiMTMR2_MOUSE
    AccessioniPrimary (citable) accession number: Q9Z2D1
    Secondary accession number(s): B8JJF4, Q8VHA7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: July 27, 2011
    Last modified: October 1, 2014
    This is version 110 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3