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Protein

Myotubularin

Gene

MTM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) (PubMed:11001925, PubMed:10900271, PubMed:12646134, PubMed:14722070). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides (PubMed:9537414). Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome (PubMed:14722070). Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture (PubMed:21135508). Plays a role in mitochondrial morphology and positioning (PubMed:21135508). Required for skeletal muscle maintenance but not for myogenesis (PubMed:21135508). In skeletal muscles, stabilizes MTMR12 protein levels (PubMed:23818870).7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Allosterically activated by phosphatidylinositol 5-phosphate (PI5P).1 Publication

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=39 µM for PI3P1 Publication
  2. KM=17 µM for PI(3,5)P21 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei375Phosphocysteine intermediatePROSITE-ProRule annotation1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionHydrolase, Protein phosphatase
    Biological processLipid metabolism, Protein transport, Transport

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...
    BRENDAi
    3.1.3.64 2681
    3.1.3.95 2681

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-1660499 Synthesis of PIPs at the plasma membrane
    R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
    R-HSA-1660517 Synthesis of PIPs at the late endosome membrane

    SABIO-RK: Biochemical Reaction Kinetics Database

    More...
    SABIO-RKi
    Q13496

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...
    SwissLipidsi
    SLP:000000846
    SLP:000000847

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Myotubularin
    Alternative name(s):
    Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.952 Publications)
    Phosphatidylinositol-3-phosphate phosphatase (EC:3.1.3.645 Publications)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:MTM1
    Synonyms:CG2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000171100.14

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:7448 MTM1

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    300415 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q13496

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cytoplasm, Endosome, Membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Myopathy, centronuclear, X-linked (CNMX)14 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
    See also OMIM:310400
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00638647Missing in CNMX. 1 Publication1
    Natural variantiVAR_01822749V → F in CNMX; greatly reduced binding to PI(3,5)P2; abolishes interaction with MTMR12; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation. 3 PublicationsCorresponds to variant dbSNP:rs587783796EnsemblClinVar.1
    Natural variantiVAR_01822868Y → D in CNMX. 1 Publication1
    Natural variantiVAR_00638769R → C in CNMX; mild; reduced response to PI5P and reduced binding to PI(3,5)P2; abolishes interaction with MTMR12. 6 PublicationsCorresponds to variant dbSNP:rs132630304EnsemblClinVar.1
    Natural variantiVAR_01822969R → P in CNMX. 1 Publication1
    Natural variantiVAR_01823069R → S in CNMX; severe. 1 Publication1
    Natural variantiVAR_00638870L → F in CNMX; mild; reduced binding to PI(3,5)P2. 3 PublicationsCorresponds to variant dbSNP:rs587783809EnsemblClinVar.1
    Natural variantiVAR_00638987L → P in CNMX; mild; reduced binding to PI(3,5)P2. 2 PublicationsCorresponds to variant dbSNP:rs587783816EnsemblClinVar.1
    Natural variantiVAR_018231157E → K in CNMX. 1 PublicationCorresponds to variant dbSNP:rs132630307EnsemblClinVar.1
    Natural variantiVAR_009217179P → S in CNMX; mild. 2 PublicationsCorresponds to variant dbSNP:rs587783832EnsemblClinVar.1
    Natural variantiVAR_018232180N → K in CNMX; very mild. 1 Publication1
    Natural variantiVAR_006390184R → G in CNMX; severe; loss of activity; abolishes interaction with DES and MTMR12. 4 PublicationsCorresponds to variant dbSNP:rs587783835EnsemblClinVar.1
    Natural variantiVAR_018233184R → L in CNMX. 1 Publication1
    Natural variantiVAR_018234186T → I in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783836EnsemblClinVar.1
    Natural variantiVAR_006391189N → S in CNMX. 1 PublicationCorresponds to variant dbSNP:rs132630302EnsemblClinVar.1
    Natural variantiVAR_018235197T → I in CNMX. 1 Publication1
    Natural variantiVAR_006392198Y → N in CNMX; severe. 1 Publication1
    Natural variantiVAR_018236199P → S in CNMX. 1 Publication1
    Natural variantiVAR_018237202L → S in CNMX; severe. 1 Publication1
    Natural variantiVAR_006393205P → L in CNMX; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES and MTMR12. 7 PublicationsCorresponds to variant dbSNP:rs587783841EnsemblClinVar.1
    Natural variantiVAR_009218225I → T in CNMX; mild. 2 Publications1
    Natural variantiVAR_018238226P → T in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783848EnsemblClinVar.1
    Natural variantiVAR_018239227V → M in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783850EnsemblClinVar.1
    Natural variantiVAR_018240228L → P in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783851EnsemblClinVar.1
    Natural variantiVAR_006394229S → P in CNMX; mild. 1 Publication1
    Natural variantiVAR_018241230W → C in CNMX. 2 Publications1
    Natural variantiVAR_018242232H → R in CNMX. 1 Publication1
    Natural variantiVAR_006395241R → C in CNMX; mild to moderate; abolishes interaction with DES, but not with MTMR12; reduces MTMR12 protein levels in myotubes. 7 PublicationsCorresponds to variant dbSNP:rs132630305EnsemblClinVar.1
    Natural variantiVAR_006396241R → L in CNMX; severe; loss of activity. 3 Publications1
    Natural variantiVAR_009219264I → S in CNMX; severe. 1 PublicationCorresponds to variant dbSNP:rs587783856EnsemblClinVar.1
    Natural variantiVAR_018243279A → G in CNMX. 1 Publication1
    Natural variantiVAR_009220294Missing in CNMX; mild. 1 Publication1
    Natural variantiVAR_006397317M → R in CNMX; mild. 1 Publication1
    Natural variantiVAR_018244346W → C in CNMX; mild. 1 Publication1
    Natural variantiVAR_018245346W → S in CNMX. 1
    Natural variantiVAR_018246364V → G in CNMX. 1 Publication1
    Natural variantiVAR_018247374H → D in CNMX. Corresponds to variant dbSNP:rs587783754EnsemblClinVar.1
    Natural variantiVAR_006398376S → N in CNMX; dramatic decrease in phosphatase activity. 2 Publications1
    Natural variantiVAR_018248378G → E in CNMX. 1 Publication1
    Natural variantiVAR_006399378G → R in CNMX; severe; dramatic decrease in phosphatase activity; does not affect EGFR degradation. 5 PublicationsCorresponds to variant dbSNP:rs587783755EnsemblClinVar.1
    Natural variantiVAR_068846387S → Y in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783759EnsemblClinVar.1
    Natural variantiVAR_018249389A → D in CNMX; severe. 1 Publication1
    Natural variantiVAR_018250391L → P in CNMX. 1 Publication1
    Natural variantiVAR_006400397Y → C in CNMX; severe; dramatic decrease in phosphatase activity. 5 PublicationsCorresponds to variant dbSNP:rs132630303EnsemblClinVar.1
    Natural variantiVAR_006401402G → A in CNMX; mild. 1 PublicationCorresponds to variant dbSNP:rs587783762EnsemblClinVar.1
    Natural variantiVAR_018251402G → R in CNMX. 3 Publications1
    Natural variantiVAR_018252402G → V in CNMX. 1 Publication1
    Natural variantiVAR_006402404E → K in CNMX; mild. 2 PublicationsCorresponds to variant dbSNP:rs781933660EnsemblClinVar.1
    Natural variantiVAR_006403406L → P in CNMX; severe. 1 Publication1
    Natural variantiVAR_018253411W → C in CNMX. Corresponds to variant dbSNP:rs587783764EnsemblClinVar.1
    Natural variantiVAR_009221420S → SFIQ in CNMX; severe. 1
    Natural variantiVAR_006404421R → Q in CNMX; severe; reduced activity and response to PI5P; does not affect interaction with DES or MTMR12. 7 PublicationsCorresponds to variant dbSNP:rs587783772EnsemblClinVar.1
    Natural variantiVAR_006405421R → RFIQ in CNMX; severe. 1
    Natural variantiVAR_006406431D → N in CNMX. 1 PublicationCorresponds to variant dbSNP:rs886044782EnsemblClinVar.1
    Natural variantiVAR_006407433D → N in CNMX. 1 PublicationCorresponds to variant dbSNP:rs886044783EnsemblClinVar.1
    Natural variantiVAR_018254444C → Y in CNMX. 1 Publication1
    Natural variantiVAR_006408469H → P in CNMX. 2 Publications1
    Natural variantiVAR_018255470L → P in CNMX; severe. 1 Publication1
    Natural variantiVAR_018256481N → Y in CNMX; mild. 1 Publication1
    Natural variantiVAR_006409499W → R in CNMX; mild. 1 PublicationCorresponds to variant dbSNP:rs587783801EnsemblClinVar.1
    Natural variantiVAR_009222510K → N in CNMX; severe. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi114K → A: Reduced response to PI5P. 1 Publication1
    Mutagenesisi181H → A: Disrupts interaction with DES. Does not affect lipid phosphatase activity. 1 Publication1
    Mutagenesisi206Y → A: Disrupts interaction with DES. Does not affect lipid phosphatase activity. 1 Publication1
    Mutagenesisi209S → A: Disrupts interaction with DES. Does not affect lipid phosphatase activity. 1 Publication1
    Mutagenesisi220R → A: Loss of activity. 1 Publication1
    Mutagenesisi255K → A: Disrupts interaction with DES. 1 Publication1
    Mutagenesisi257D → A: No effect on subcellular location. 1 Publication1
    Mutagenesisi269K → A: Disrupts interaction with DES. Does not affect lipid phosphatase activity. 1 Publication1
    Mutagenesisi278D → A: Localizes to plasma membrane extensions. Does not affect interaction with DES. 3 Publications1
    Mutagenesisi375C → A: No effect on subcellular location. 5 Publications1
    Mutagenesisi375C → S: Lacks activity toward PI3P. Does not affect interaction with DES or MTMR12. 6 Publications1
    Mutagenesisi377D → A: No effect on subcellular location. 2 Publications1
    Mutagenesisi380D → A: Does not affect interaction with DES. 3 Publications1
    Mutagenesisi394D → A: Produces an unstable protein. 1 Publication1
    Mutagenesisi410E → A: Produces an unstable protein. 1 Publication1
    Mutagenesisi420S → D: Does not affect interaction with DES. 1 Publication1
    Mutagenesisi443D → A: Produces an unstable protein. 1 Publication1
    Mutagenesisi474 – 603Missing : Reduces MTMR12 protein levels in myotubes. 1 PublicationAdd BLAST130

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    4534

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...
    GeneReviewsi
    MTM1

    MalaCards human disease database

    More...
    MalaCardsi
    MTM1
    MIMi310400 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000171100

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    596 X-linked centronuclear myopathy
    456328 X-linked myotubular myopathy-abnormal genitalia syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA31251

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    MTM1

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    2851537

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000949301 – 603MyotubularinAdd BLAST603

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei13PhosphoserineCombined sources1
    Modified residuei18PhosphoserineCombined sources1
    Modified residuei495PhosphothreonineCombined sources1
    Modified residuei588PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q13496

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q13496

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    Q13496

    PeptideAtlas

    More...
    PeptideAtlasi
    Q13496

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q13496

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    59495

    PTM databases

    DEPOD human dephosphorylation database

    More...
    DEPODi
    Q13496

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q13496

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    Q13496

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000171100 Expressed in 216 organ(s), highest expression level in secondary oocyte

    CleanEx database of gene expression profiles

    More...
    CleanExi
    HS_MTM1

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q13496 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q13496 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA010008
    HPA010665

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Forms a complex composed of MTMR12 and lipid phosphatase MTM1; in skeletal muscles, the interaction stabilizes both MTMR12 and MTM1 protein levels; the interaction may modulate MTM1 intracellular location (PubMed:12847286, PubMed:23818870). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with DES in skeletal muscle but not in cardiac muscle (PubMed:21135508). Interacts with SPEG (PubMed:25087613).5 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    110630, 33 interactors

    Database of interacting proteins

    More...
    DIPi
    DIP-61934N

    Protein interaction database and analysis system

    More...
    IntActi
    Q13496, 8 interactors

    Molecular INTeraction database

    More...
    MINTi
    Q13496

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000359423

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q13496

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    Q13496

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini29 – 97GRAMAdd BLAST69
    Domaini163 – 538Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

    <p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.

    <p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1089 Eukaryota
    ENOG410XPTU LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000157029

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    HOG000210598

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG000220

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q13496

    KEGG Orthology (KO)

    More...
    KOi
    K01108

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    KYTNPFY

    Database of Orthologous Groups

    More...
    OrthoDBi
    EOG091G04DS

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q13496

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF315197

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    2.30.29.30, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR004182 GRAM
    IPR030561 Myotubularin
    IPR010569 Myotubularin-like_Pase_dom
    IPR030564 Myotubularin_fam
    IPR011993 PH-like_dom_sf
    IPR029021 Prot-tyrosine_phosphatase-like
    IPR016130 Tyr_Pase_AS
    IPR003595 Tyr_Pase_cat
    IPR000387 TYR_PHOSPHATASE_dom

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10807 PTHR10807, 1 hit
    PTHR10807:SF69 PTHR10807:SF69, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF02893 GRAM, 1 hit
    PF06602 Myotub-related, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...
    SMARTi
    View protein in SMART
    SM00568 GRAM, 1 hit
    SM00404 PTPc_motif, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF52799 SSF52799, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS51339 PPASE_MYOTUBULARIN, 1 hit
    PS00383 TYR_PHOSPHATASE_1, 1 hit
    PS50056 TYR_PHOSPHATASE_2, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q13496-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MASASTSKYN SHSLENESIK RTSRDGVNRD LTEAVPRLPG ETLITDKEVI
    60 70 80 90 100
    YICPFNGPIK GRVYITNYRL YLRSLETDSS LILDVPLGVI SRIEKMGGAT
    110 120 130 140 150
    SRGENSYGLD ITCKDMRNLR FALKQEGHSR RDMFEILTRY AFPLAHSLPL
    160 170 180 190 200
    FAFLNEEKFN VDGWTVYNPV EEYRRQGLPN HHWRITFINK CYELCDTYPA
    210 220 230 240 250
    LLVVPYRASD DDLRRVATFR SRNRIPVLSW IHPENKTVIV RCSQPLVGMS
    260 270 280 290 300
    GKRNKDDEKY LDVIRETNKQ ISKLTIYDAR PSVNAVANKA TGGGYESDDA
    310 320 330 340 350
    YHNAELFFLD IHNIHVMRES LKKVKDIVYP NVEESHWLSS LESTHWLEHI
    360 370 380 390 400
    KLVLTGAIQV ADKVSSGKSS VLVHCSDGWD RTAQLTSLAM LMLDSFYRSI
    410 420 430 440 450
    EGFEILVQKE WISFGHKFAS RIGHGDKNHT DADRSPIFLQ FIDCVWQMSK
    460 470 480 490 500
    QFPTAFEFNE QFLIIILDHL YSCRFGTFLF NCESARERQK VTERTVSLWS
    510 520 530 540 550
    LINSNKEKFK NPFYTKEINR VLYPVASMRH LELWVNYYIR WNPRIKQQQP
    560 570 580 590 600
    NPVEQRYMEL LALRDEYIKR LEELQLANSA KLSDPPTSPS SPSQMMPHVQ

    THF
    Length:603
    Mass (Da):69,932
    Last modified:July 15, 1998 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iBE9770F2471957C0
    GO
    Isoform 2 (identifier: Q13496-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         78-114: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:566
    Mass (Da):66,053
    Checksum:i237719B8DEB99D1B
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    C9J2A2C9J2A2_HUMAN
    Myotubularin
    MTM1
    103Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti410E → K in AAH30779 (PubMed:15489334).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_00638647Missing in CNMX. 1 Publication1
    Natural variantiVAR_01822749V → F in CNMX; greatly reduced binding to PI(3,5)P2; abolishes interaction with MTMR12; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation. 3 PublicationsCorresponds to variant dbSNP:rs587783796EnsemblClinVar.1
    Natural variantiVAR_01822868Y → D in CNMX. 1 Publication1
    Natural variantiVAR_00638769R → C in CNMX; mild; reduced response to PI5P and reduced binding to PI(3,5)P2; abolishes interaction with MTMR12. 6 PublicationsCorresponds to variant dbSNP:rs132630304EnsemblClinVar.1
    Natural variantiVAR_01822969R → P in CNMX. 1 Publication1
    Natural variantiVAR_01823069R → S in CNMX; severe. 1 Publication1
    Natural variantiVAR_00638870L → F in CNMX; mild; reduced binding to PI(3,5)P2. 3 PublicationsCorresponds to variant dbSNP:rs587783809EnsemblClinVar.1
    Natural variantiVAR_00638987L → P in CNMX; mild; reduced binding to PI(3,5)P2. 2 PublicationsCorresponds to variant dbSNP:rs587783816EnsemblClinVar.1
    Natural variantiVAR_018231157E → K in CNMX. 1 PublicationCorresponds to variant dbSNP:rs132630307EnsemblClinVar.1
    Natural variantiVAR_009217179P → S in CNMX; mild. 2 PublicationsCorresponds to variant dbSNP:rs587783832EnsemblClinVar.1
    Natural variantiVAR_018232180N → K in CNMX; very mild. 1 Publication1
    Natural variantiVAR_006390184R → G in CNMX; severe; loss of activity; abolishes interaction with DES and MTMR12. 4 PublicationsCorresponds to variant dbSNP:rs587783835EnsemblClinVar.1
    Natural variantiVAR_018233184R → L in CNMX. 1 Publication1
    Natural variantiVAR_018234186T → I in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783836EnsemblClinVar.1
    Natural variantiVAR_006391189N → S in CNMX. 1 PublicationCorresponds to variant dbSNP:rs132630302EnsemblClinVar.1
    Natural variantiVAR_018235197T → I in CNMX. 1 Publication1
    Natural variantiVAR_006392198Y → N in CNMX; severe. 1 Publication1
    Natural variantiVAR_018236199P → S in CNMX. 1 Publication1
    Natural variantiVAR_018237202L → S in CNMX; severe. 1 Publication1
    Natural variantiVAR_006393205P → L in CNMX; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES and MTMR12. 7 PublicationsCorresponds to variant dbSNP:rs587783841EnsemblClinVar.1
    Natural variantiVAR_009218225I → T in CNMX; mild. 2 Publications1
    Natural variantiVAR_018238226P → T in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783848EnsemblClinVar.1
    Natural variantiVAR_018239227V → M in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783850EnsemblClinVar.1
    Natural variantiVAR_018240228L → P in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783851EnsemblClinVar.1
    Natural variantiVAR_006394229S → P in CNMX; mild. 1 Publication1
    Natural variantiVAR_018241230W → C in CNMX. 2 Publications1
    Natural variantiVAR_018242232H → R in CNMX. 1 Publication1
    Natural variantiVAR_006395241R → C in CNMX; mild to moderate; abolishes interaction with DES, but not with MTMR12; reduces MTMR12 protein levels in myotubes. 7 PublicationsCorresponds to variant dbSNP:rs132630305EnsemblClinVar.1
    Natural variantiVAR_006396241R → L in CNMX; severe; loss of activity. 3 Publications1
    Natural variantiVAR_009219264I → S in CNMX; severe. 1 PublicationCorresponds to variant dbSNP:rs587783856EnsemblClinVar.1
    Natural variantiVAR_018243279A → G in CNMX. 1 Publication1
    Natural variantiVAR_009220294Missing in CNMX; mild. 1 Publication1
    Natural variantiVAR_006397317M → R in CNMX; mild. 1 Publication1
    Natural variantiVAR_018244346W → C in CNMX; mild. 1 Publication1
    Natural variantiVAR_018245346W → S in CNMX. 1
    Natural variantiVAR_018246364V → G in CNMX. 1 Publication1
    Natural variantiVAR_018247374H → D in CNMX. Corresponds to variant dbSNP:rs587783754EnsemblClinVar.1
    Natural variantiVAR_006398376S → N in CNMX; dramatic decrease in phosphatase activity. 2 Publications1
    Natural variantiVAR_018248378G → E in CNMX. 1 Publication1
    Natural variantiVAR_006399378G → R in CNMX; severe; dramatic decrease in phosphatase activity; does not affect EGFR degradation. 5 PublicationsCorresponds to variant dbSNP:rs587783755EnsemblClinVar.1
    Natural variantiVAR_068846387S → Y in CNMX. 1 PublicationCorresponds to variant dbSNP:rs587783759EnsemblClinVar.1
    Natural variantiVAR_018249389A → D in CNMX; severe. 1 Publication1
    Natural variantiVAR_018250391L → P in CNMX. 1 Publication1
    Natural variantiVAR_006400397Y → C in CNMX; severe; dramatic decrease in phosphatase activity. 5 PublicationsCorresponds to variant dbSNP:rs132630303EnsemblClinVar.1
    Natural variantiVAR_006401402G → A in CNMX; mild. 1 PublicationCorresponds to variant dbSNP:rs587783762EnsemblClinVar.1
    Natural variantiVAR_018251402G → R in CNMX. 3 Publications1
    Natural variantiVAR_018252402G → V in CNMX. 1 Publication1
    Natural variantiVAR_006402404E → K in CNMX; mild. 2 PublicationsCorresponds to variant dbSNP:rs781933660EnsemblClinVar.1
    Natural variantiVAR_006403406L → P in CNMX; severe. 1 Publication1
    Natural variantiVAR_018253411W → C in CNMX. Corresponds to variant dbSNP:rs587783764EnsemblClinVar.1
    Natural variantiVAR_009221420S → SFIQ in CNMX; severe. 1
    Natural variantiVAR_006404421R → Q in CNMX; severe; reduced activity and response to PI5P; does not affect interaction with DES or MTMR12. 7 PublicationsCorresponds to variant dbSNP:rs587783772EnsemblClinVar.1
    Natural variantiVAR_006405421R → RFIQ in CNMX; severe. 1
    Natural variantiVAR_006406431D → N in CNMX. 1 PublicationCorresponds to variant dbSNP:rs886044782EnsemblClinVar.1
    Natural variantiVAR_006407433D → N in CNMX. 1 PublicationCorresponds to variant dbSNP:rs886044783EnsemblClinVar.1
    Natural variantiVAR_018254444C → Y in CNMX. 1 Publication1
    Natural variantiVAR_006408469H → P in CNMX. 2 Publications1
    Natural variantiVAR_018255470L → P in CNMX; severe. 1 Publication1
    Natural variantiVAR_018256481N → Y in CNMX; mild. 1 Publication1
    Natural variantiVAR_006409499W → R in CNMX; mild. 1 PublicationCorresponds to variant dbSNP:rs587783801EnsemblClinVar.1
    Natural variantiVAR_009222510K → N in CNMX; severe. 1 Publication1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05620878 – 114Missing in isoform 2. 1 PublicationAdd BLAST37

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    U46024 mRNA Translation: AAC51682.1
    AF020676
    , AF020664, AF020665, AF020666, AF020667, AF020668, AF020669, AF020670, AF020671, AF020672, AF020673, AF020674, AF020675 Genomic DNA Translation: AAC12865.1
    AK297021 mRNA Translation: BAH12477.1
    AC109994 Genomic DNA No translation available.
    AF002223 Genomic DNA No translation available.
    CH471169 Genomic DNA Translation: EAW99377.1
    BC030779 mRNA Translation: AAH30779.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS14694.1 [Q13496-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_000243.1, NM_000252.2 [Q13496-1]
    XP_005274744.1, XM_005274687.2 [Q13496-1]
    XP_011529475.1, XM_011531173.2 [Q13496-1]
    XP_016885039.1, XM_017029550.1 [Q13496-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.655056

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000370396; ENSP00000359423; ENSG00000171100 [Q13496-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    4534

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:4534

    UCSC genome browser

    More...
    UCSCi
    uc004fef.5 human [Q13496-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    <p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

    Leiden Muscular Dystrophy pages, Myotubularin 1 (MTM1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    U46024 mRNA Translation: AAC51682.1
    AF020676
    , AF020664, AF020665, AF020666, AF020667, AF020668, AF020669, AF020670, AF020671, AF020672, AF020673, AF020674, AF020675 Genomic DNA Translation: AAC12865.1
    AK297021 mRNA Translation: BAH12477.1
    AC109994 Genomic DNA No translation available.
    AF002223 Genomic DNA No translation available.
    CH471169 Genomic DNA Translation: EAW99377.1
    BC030779 mRNA Translation: AAH30779.1
    CCDSiCCDS14694.1 [Q13496-1]
    RefSeqiNP_000243.1, NM_000252.2 [Q13496-1]
    XP_005274744.1, XM_005274687.2 [Q13496-1]
    XP_011529475.1, XM_011531173.2 [Q13496-1]
    XP_016885039.1, XM_017029550.1 [Q13496-2]
    UniGeneiHs.655056

    3D structure databases

    ProteinModelPortaliQ13496
    SMRiQ13496
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi110630, 33 interactors
    DIPiDIP-61934N
    IntActiQ13496, 8 interactors
    MINTiQ13496
    STRINGi9606.ENSP00000359423

    Chemistry databases

    SwissLipidsiSLP:000000846
    SLP:000000847

    PTM databases

    DEPODiQ13496
    iPTMnetiQ13496
    PhosphoSitePlusiQ13496

    Polymorphism and mutation databases

    BioMutaiMTM1
    DMDMi2851537

    Proteomic databases

    EPDiQ13496
    MaxQBiQ13496
    PaxDbiQ13496
    PeptideAtlasiQ13496
    PRIDEiQ13496
    ProteomicsDBi59495

    Protocols and materials databases

    The DNASU plasmid repository

    More...
    DNASUi
    4534
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000370396; ENSP00000359423; ENSG00000171100 [Q13496-1]
    GeneIDi4534
    KEGGihsa:4534
    UCSCiuc004fef.5 human [Q13496-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    4534
    DisGeNETi4534
    EuPathDBiHostDB:ENSG00000171100.14

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    MTM1
    GeneReviewsiMTM1
    HGNCiHGNC:7448 MTM1
    HPAiHPA010008
    HPA010665
    MalaCardsiMTM1
    MIMi300415 gene
    310400 phenotype
    neXtProtiNX_Q13496
    OpenTargetsiENSG00000171100
    Orphaneti596 X-linked centronuclear myopathy
    456328 X-linked myotubular myopathy-abnormal genitalia syndrome
    PharmGKBiPA31251

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1089 Eukaryota
    ENOG410XPTU LUCA
    GeneTreeiENSGT00940000157029
    HOGENOMiHOG000210598
    HOVERGENiHBG000220
    InParanoidiQ13496
    KOiK01108
    OMAiKYTNPFY
    OrthoDBiEOG091G04DS
    PhylomeDBiQ13496
    TreeFamiTF315197

    Enzyme and pathway databases

    BRENDAi3.1.3.64 2681
    3.1.3.95 2681
    ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane
    R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
    R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
    SABIO-RKiQ13496

    Miscellaneous databases

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    MTM1 human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    Myotubularin_1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    4534

    Protein Ontology

    More...
    PROi
    PR:Q13496

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000171100 Expressed in 216 organ(s), highest expression level in secondary oocyte
    CleanExiHS_MTM1
    ExpressionAtlasiQ13496 baseline and differential
    GenevisibleiQ13496 HS

    Family and domain databases

    Gene3Di2.30.29.30, 1 hit
    InterProiView protein in InterPro
    IPR004182 GRAM
    IPR030561 Myotubularin
    IPR010569 Myotubularin-like_Pase_dom
    IPR030564 Myotubularin_fam
    IPR011993 PH-like_dom_sf
    IPR029021 Prot-tyrosine_phosphatase-like
    IPR016130 Tyr_Pase_AS
    IPR003595 Tyr_Pase_cat
    IPR000387 TYR_PHOSPHATASE_dom
    PANTHERiPTHR10807 PTHR10807, 1 hit
    PTHR10807:SF69 PTHR10807:SF69, 1 hit
    PfamiView protein in Pfam
    PF02893 GRAM, 1 hit
    PF06602 Myotub-related, 1 hit
    SMARTiView protein in SMART
    SM00568 GRAM, 1 hit
    SM00404 PTPc_motif, 1 hit
    SUPFAMiSSF52799 SSF52799, 1 hit
    PROSITEiView protein in PROSITE
    PS51339 PPASE_MYOTUBULARIN, 1 hit
    PS00383 TYR_PHOSPHATASE_1, 1 hit
    PS50056 TYR_PHOSPHATASE_2, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMTM1_HUMAN
    <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13496
    Secondary accession number(s): A6NDB1
    , B7Z491, F2Z330, Q8NEL1
    <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: July 15, 1998
    Last modified: December 5, 2018
    This is version 175 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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    Main funding by: National Institutes of Health

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