MTM1 Gene (Protein Coding)

Myotubularin 1

GC0XP150562
GIFtS:
43
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008] See more...

Aliases for MTM1 Gene

Aliases for MTM1 Gene

  • Myotubularin 1 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Myotubularin 3 4
  • Myotubular Myopathy 1 2
  • EC 3.1.3.48 52
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • XLMTM 3
  • MTMX 3
  • CNM 3
  • CG2 4

External Ids for MTM1 Gene

Previous GeneCards Identifiers for MTM1 Gene

  • GC0XP144039
  • GC0XP146420
  • GC0XP147508
  • GC0XP148378
  • GC0XP148379
  • GC0XP149407
  • GC0XP149487
  • GC0XP149738
  • GC0XP138597

Summaries for MTM1 Gene

Entrez Gene Summary for MTM1 Gene

  • This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTM1 Gene

MTM1 (Myotubularin 1) is a Protein Coding gene. Diseases associated with MTM1 include Myopathy, Centronuclear, X-Linked and Polyhydramnios. Among its related pathways are Metabolism and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol binding. An important paralog of this gene is MTMR2.

UniProtKB/Swiss-Prot Summary for MTM1 Gene

  • 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).

Gene Wiki entry for MTM1 Gene

Additional gene information for MTM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTM1 Gene

Genomics for MTM1 Gene

GeneHancer (GH) Regulatory Elements for MTM1 Gene

Promoters and enhancers for MTM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ150567 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 502.4 +10.2 10246 10.2 EP300 FOXK2 ZNF217 NRF1 POLR2G USF1 SP1 NCOR1 PHF8 SIX5 MTM1 MTMR1 HSALNG0140645
GH0XJ150504 Promoter/Enhancer 1 Ensembl ENCODE 18.4 -55.5 -55532 5.4 USF1 SAP30 POLR2A ZNF263 NANOG TCF12 CTCF RAD21 SIN3A GATA2 MTM1 MTMR1 RF01061-205 lnc-MTM1-1 MAMLD1
GH0XJ150517 Enhancer 0.7 Ensembl ENCODE 12.1 -44.9 -44945 0.7 MEF2B EBF1 RAD21 RXRA HNF4A MAX SP1 MTMR1 MTM1 RF01061-205 lnc-MTM1-1
GH0XJ150691 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 3.4 +132.0 132012 6.9 ZBTB40 ZNF217 ZFX ZNF10 ZIC2 ZBTB10 POLR2A CLOCK ZBTB11 ZNF623 MTMR1 MTM1 piR-32680
GH0XJ150593 Enhancer 0.3 Ensembl 13.1 +32.3 32343 1.2 SPI1 RFX1 MTM1 MTMR1 HSALNG0140645
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTM1

Genomic Locations for MTM1 Gene

Genomic Locations for MTM1 Gene
chrX:150,562,658-150,673,322
(GRCh38/hg38)
Size:
110,665 bases
Orientation:
Plus strand
chrX:149,737,047-149,841,795
(GRCh37/hg19)
Size:
104,749 bases
Orientation:
Plus strand

Genomic View for MTM1 Gene

Genes around MTM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MTM1 Gene

Proteins for MTM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MTM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13496-MTM1_HUMAN
    Recommended name:
    Myotubularin
    Protein Accession:
    Q13496
    Secondary Accessions:
    • A6NDB1
    • B7Z491
    • F2Z330
    • Q8NEL1

    Protein attributes for MTM1 Gene

    Size:
    603 amino acids
    Molecular mass:
    69932 Da
    Quaternary structure:
    • Heterodimer with MTMR12 (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).

    Alternative splice isoforms for MTM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTM1 Gene

Protein Expression for MTM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MTM1 Gene

Q13496:
  • RIPVLSW
  • VLYPVAS
  • WRITFIN
  • LAMLMLD
  • RHLELWV
  • YLDVIRETN
  • NPFYTKE
  • YNPVEEYRRQGLP
  • FLDIHNIHVMRESL
  • GHGDKNH
  • VSSGKSSV
  • FLQFIDCVWQM
  • HCSDGWDRT
  • TYPALLVVP
  • YYIRWNPR
  • QFPTAFEFNE
  • WISFGHKF
  • CKDMRNLR
  • LESTHWLEHIKL
  • LDHLYSCRFGTFL
  • VNAVANKA
  • SKYNSHSLENESIK
  • SRGENSYGL
  • HLELWVNYY
  • YELCDTYP
  • YITNYRLYLRSLETD
  • PVLSWIHPE

Post-translational modifications for MTM1 Gene

  • Ubiquitination at Lys190
  • Modification sites at PhosphoSitePlus

Other Protein References for MTM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MTM1 Gene

Gene Families for MTM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MTM1 Gene

Blocks:
  • GRAM domain
  • Myotubularin-related
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MTM1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50569, highly similar to Myotubularin (EC 3.1.3.48) (B7Z491_HUMAN)
  • cDNA FLJ50571, highly similar to Myotubularin (EC 3.1.3.48) (B7Z499_HUMAN)
  • Myotubularin (MTM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13496

UniProtKB/Swiss-Prot:

MTM1_HUMAN :
  • The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTM1: view

Function for MTM1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MTM1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence={ECO:0000269 PubMed:10900271, ECO:0000269 PubMed:11001925, ECO:0000269 PubMed:12646134, ECO:0000269 PubMed:12847286, ECO:0000269 PubMed:14722070};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by phosphatidylinositol 5-phosphate (PI5P).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=39 uM for PI3P {ECO:0000269 PubMed:14722070}; KM=17 uM for PI(3,5)P2 {ECO:0000269 PubMed:14722070};
GENATLAS Biochemistry:
myotubularin with a transcript,ubiquitously expressed,and a shorter one exclusively found in skeletal muscle and testis,putatively involved in signal transduction,highly conserved in yeast and C elegans

Enzyme Numbers (IUBMB) for MTM1 Gene

Gene Ontology (GO) - Molecular Function for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IDA,IEA 10900271
GO:0004721 phosphoprotein phosphatase activity IEA,IDA 9537414
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 12847286
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MTM1: view
genes like me logo Genes that share phenotypes with MTM1: view

Human Phenotype Ontology for MTM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTM1 Gene

MGI Knock Outs for MTM1:
  • Mtm1 Mtm1<tm1.1Jman>

Animal Model Products

  • Taconic Biosciences Mouse Models for MTM1

CRISPR Products

Clone Products

  • Addgene plasmids for MTM1

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for MTM1 Gene

Localization for MTM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTM1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, ruffle. Late endosome. Cytoplasm, myofibril, sarcomere. Note=Localizes as a dense cytoplasmic network (PubMed:11001925). Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles (PubMed:12118066). Predominantly located in the cytoplasm following interaction with MTMR12 (PubMed:12847286). Recruited to the late endosome following EGF stimulation (PubMed:14722070). In skeletal muscles, co-localizes with MTMR12 in the sarcomere (By similarity). {ECO:0000250 UniProtKB:Q9Z2C5, ECO:0000269 PubMed:11001925, ECO:0000269 PubMed:12118066, ECO:0000269 PubMed:12847286, ECO:0000269 PubMed:14722070}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTM1 gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 5
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 12118066
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA,IEA 10900271
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA,IEA 14722070
genes like me logo Genes that share ontologies with MTM1: view

Pathways & Interactions for MTM1 Gene

genes like me logo Genes that share pathways with MTM1: view

Gene Ontology (GO) - Biological Process for MTM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 9537414
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008333 endosome to lysosome transport IEA,IDA 14722070
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with MTM1: view

No data available for SIGNOR curated interactions for MTM1 Gene

Drugs & Compounds for MTM1 Gene

Products:

  1. Drug

(4) Drugs for MTM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(9) Additional Compounds for MTM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1D-Myo-inositol 1,3-bisphosphate
  • D-myo-Inositol 1,3-bisphosphate
  • Inositol 1,3-bisphosphate
  • PHOSPHORIC ACID mono-(2,3,4,6-tetrahydroxy-5-phosphonooxy-cyclohexyl) ester
  • D-myo-Inositol 1,3-bisphosphoric acid
  • 1D-myo-Inositol 1,3-bisphosphoric acid
 103597-56-4
Inositol phosphate
  • D-myo-Inositol (6)-monophosphate
  • D-myo-Inositol (6)-phosphate
  • I6P
  • Ins(6)P
  • Ins6p
 15421-51-9
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with MTM1: view

Transcripts for MTM1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MTM1 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MTM1

Alternative Splicing Database (ASD) splice patterns (SP) for MTM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: - -
SP2: - - - - -
SP3:
SP4: - - -

Relevant External Links for MTM1 Gene

GeneLoc Exon Structure for
MTM1

Expression for MTM1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTM1 Gene

mRNA expression in normal human tissues for MTM1 Gene
mRNA expression by BioGPS for MTM1 GenemRNA expression by GTEx for MTM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTM1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.9), Cervix (7.5), and Platelet (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTM1 Gene



Protein tissue co-expression partners for MTM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTM1

SOURCE GeneReport for Unigene cluster for MTM1 Gene:

Hs.655056

Evidence on tissue expression from TISSUES for MTM1 Gene

  • Blood(4.4)
  • Nervous system(3.1)
  • Muscle(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MTM1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTM1 Gene

Orthologs for MTM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MTM1 30
  • 98.92 (n)
dog
(Canis familiaris)
 Mammalia MTM1 31 30
  • 91.98 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MTM1 31 30
  • 89.61 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mtm1 17 31 30
  • 88.83 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MTM1 31
  • 82 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MTM1 31
  • 79 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mtm1 30
  • 76.25 (n)
chicken
(Gallus gallus)
 Aves MTM1 31 30
  • 76.95 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mtm1 30
  • 73.15 (n)
zebrafish
(Danio rerio)
 Actinopterygii mtm1 31 30
  • 67.94 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta myotubularin 32
  • 56 (a)
mtm 31
  • 52 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea mtm-1 31 30
  • 53.89 (n)
 OneToMany
Y110A7A.5 32
  • 45 (a)
T24A11.1a 32
  • 37 (a)
T24A11.1b 32
  • 37 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.5340 31
  • 56 (a)
 OneToMany
Species where no ortholog for MTM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTM1 Gene

ENSEMBL:
Gene Tree for MTM1 (if available)
TreeFam:
Gene Tree for MTM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTM1: view image

Paralogs for MTM1 Gene

Paralogs for MTM1 Gene

(9) SIMAP similar genes for MTM1 Gene using alignment to 5 proteins:

  • MTM1_HUMAN
  • B7Z491_HUMAN
  • B7Z499_HUMAN
  • C9J2A2_HUMAN
  • F5H1N3_HUMAN
genes like me logo Genes that share paralogs with MTM1: view

Variants for MTM1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTM1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
572307 Uncertain Significance: Severe X-linked myotubular myopathy 150,638,979(+) G/A MISSENSE_VARIANT
576601 Uncertain Significance: Severe X-linked myotubular myopathy 150,671,450(+) G/A MISSENSE_VARIANT
577570 Uncertain Significance: Severe X-linked myotubular myopathy 150,596,499(+) C/T MISSENSE_VARIANT
599006 Pathogenic: High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Polyhydramnios; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly 150,659,665(+) G/T MISSENSE_VARIANT
646347 Uncertain Significance: Severe X-linked myotubular myopathy 150,592,619(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MTM1 Gene

Variant ID Type Subtype PubMed ID
esv3574978 CNV loss 25503493
esv3577528 CNV gain 25503493
nsv1077246 CNV deletion 25765185
nsv508810 CNV insertion 20534489
nsv508811 CNV insertion 20534489
nsv520338 CNV loss 19592680
nsv7149 CNV insertion 18451855

Variation tolerance for MTM1 Gene

Residual Variation Intolerance Score: 29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTM1 Gene

Human Gene Mutation Database (HGMD)
MTM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTM1 Gene

Disorders for MTM1 Gene

MalaCards: The human disease database

(38) MalaCards diseases for MTM1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear, x-linked
  • cnmx
polyhydramnios
centronuclear myopathy
  • myotubular myopathy
myopathy
  • muscular diseases
myotubular myopathy with abnormal genital development
  • x-linked myotubular myopathy-abnormal genitalia syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MTM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTM1_HUMAN
  • Myopathy, centronuclear, X-linked (CNMX) [MIM:310400]: A 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. {ECO:0000269 PubMed:10063835, ECO:0000269 PubMed:10466421, ECO:0000269 PubMed:10502779, ECO:0000269 PubMed:10790201, ECO:0000269 PubMed:11793470, ECO:0000269 PubMed:12031625, ECO:0000269 PubMed:12522554, ECO:0000269 PubMed:12859411, ECO:0000269 PubMed:17005396, ECO:0000269 PubMed:19129059, ECO:0000269 PubMed:23818870, ECO:0000269 PubMed:9285787, ECO:0000269 PubMed:9305655, ECO:0000269 PubMed:9829274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for MTM1 Gene

myopathy,myotubular 1,congenital muscle disorder characterized by severe hypotonia and respiratory insufficiency,leading to death at a mean age of 4-5 months. Muscle histology consists of small rounded muscle cells with centrally located nuclei surrounded by a halo without contractile elements. Including milder forms

Additional Disease Information for MTM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for MTM1 Gene

  1. Mutational analysis of mononucleotide repeats in dual specificity tyrosine phosphatase genes in gastric and colon carcinomas with microsatellite instability. (PMID: 20477815) Song SY … Lee SH (APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2010) 3 23 41 54
  2. X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. (PMID: 19129059) Chang CY … Su YN (Journal of the Formosan Medical Association = Taiwan yi zhi 2008) 3 4 23 54
  3. Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction. (PMID: 14722070) Tsujita K … Takenawa T (The Journal of biological chemistry 2004) 3 4 23 54
  4. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. (PMID: 12522554) Biancalana V … Mandel JL (Human genetics 2003) 3 4 23 54
  5. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PMID: 12847286) Nandurkar HH … Mitchell CA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23 54

ExternalLinks

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Products for MTM1 Gene

  • Addgene plasmids for MTM1

Sources for MTM1 Gene