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Protein

Myotubularin

Gene

MTM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis.6 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.4 Publications
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.1 Publication

Enzyme regulationi

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

Kineticsi

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

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Active sitei375Phosphocysteine intermediatePROSITE-ProRule annotation1

    GO - Molecular functioni

    • intermediate filament binding Source: UniProtKB
    • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Source: UniProtKB
    • phosphatidylinositol-3-phosphatase activity Source: UniProtKB
    • phosphatidylinositol binding Source: UniProtKB
    • phosphoprotein phosphatase activity Source: UniProtKB
    • protein tyrosine phosphatase activity Source: InterPro

    GO - Biological processi

    • endosome to lysosome transport Source: UniProtKB
    • intermediate filament organization Source: UniProtKB
    • mitochondrion distribution Source: UniProtKB
    • mitochondrion morphogenesis Source: UniProtKB
    • muscle cell cellular homeostasis Source: Ensembl
    • negative regulation of autophagosome assembly Source: Ensembl
    • negative regulation of proteasomal ubiquitin-dependent protein catabolic process Source: Ensembl
    • negative regulation of protein kinase B signaling Source: Ensembl
    • negative regulation of TOR signaling Source: Ensembl
    • phosphatidylinositol biosynthetic process Source: Reactome
    • phosphatidylinositol dephosphorylation Source: UniProtKB
    • positive regulation of skeletal muscle tissue growth Source: Ensembl
    • protein dephosphorylation Source: UniProtKB
    • protein transport Source: UniProtKB-KW
    • regulation of vacuole organization Source: UniProtKB

    Keywordsi

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

    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

    Chemistry databases

    SwissLipidsiSLP:000000846
    SLP:000000847

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myotubularin
    Alternative name(s):
    Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.951 Publication)
    Phosphatidylinositol-3-phosphate phosphatase (EC:3.1.3.644 Publications)
    Gene namesi
    Name:MTM1
    Synonyms:CG2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome X

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000171100.14
    HGNCiHGNC:7448 MTM1
    MIMi300415 gene
    neXtProtiNX_Q13496

    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

    Pathology & Biotechi

    Involvement in diseasei

    Myopathy, centronuclear, X-linked (CNMX)13 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
    Natural variantiVAR_00638647Missing in CNMX. 1 Publication1
    Natural variantiVAR_01822749V → F in CNMX; greatly reduced binding to PI(3,5)P2; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation. 2 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. 5 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. 3 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. 6 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. 6 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. 6 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
    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. 5 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

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi4534
    GeneReviewsiMTM1
    MalaCardsiMTM1
    MIMi310400 phenotype
    OpenTargetsiENSG00000171100
    Orphaneti596 X-linked centronuclear myopathy
    PharmGKBiPA31251

    Polymorphism and mutation databases

    BioMutaiMTM1
    DMDMi2851537

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000949301 – 603MyotubularinAdd BLAST603

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei13PhosphoserineCombined sources1
    Modified residuei18PhosphoserineCombined sources1
    Modified residuei495PhosphothreonineCombined sources1
    Modified residuei588PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    EPDiQ13496
    MaxQBiQ13496
    PaxDbiQ13496
    PeptideAtlasiQ13496
    PRIDEiQ13496
    ProteomicsDBi59495

    PTM databases

    DEPODiQ13496
    iPTMnetiQ13496
    PhosphoSitePlusiQ13496

    Expressioni

    Gene expression databases

    BgeeiENSG00000171100
    CleanExiHS_MTM1
    ExpressionAtlasiQ13496 baseline and differential
    GenevisibleiQ13496 HS

    Organism-specific databases

    HPAiHPA010008
    HPA010665

    Interactioni

    Subunit structurei

    Interacts with MTMR12; the interaction modulates MTM1 intracellular localization. Interacts with KMT2A/MLL1 (via SET domain). Interacts with DES in skeletal muscle but not in cardiac muscle. Interacts with SPEG.4 Publications

    Binary interactionsi

    Show more details

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ13496
    SMRiQ13496
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Domaini29 – 97GRAMAdd BLAST69
    Domaini163 – 538Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

    Domaini

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

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiKOG1089 Eukaryota
    ENOG410XPTU LUCA
    GeneTreeiENSGT00760000118832
    HOGENOMiHOG000210598
    HOVERGENiHBG000220
    InParanoidiQ13496
    KOiK01108
    OMAiPNHHWRI
    OrthoDBiEOG091G04DS
    PhylomeDBiQ13496
    TreeFamiTF315197

    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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    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
    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

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation. 2 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. 5 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. 3 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. 6 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. 6 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. 6 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
    Alternative sequenceiVSP_05620878 – 114Missing in isoform 2. 1 PublicationAdd BLAST37

    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

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Alternative splicing

    Similar proteinsi

    Entry informationi

    Entry nameiMTM1_HUMAN
    AccessioniPrimary (citable) accession number: Q13496
    Secondary accession number(s): A6NDB1
    , B7Z491, F2Z330, Q8NEL1
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: July 15, 1998
    Last modified: June 20, 2018
    This is version 172 of the entry and version 2 of the sequence. See complete history.
    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.

    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. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

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