Aliases for MTM1 Gene
Aliases for MTM1 Gene
External Ids for MTM1 Gene
- HGNC: 7448
- Entrez Gene: 4534
- Ensembl: ENSG00000171100
- OMIM: 300415
- UniProtKB: Q13496
Previous GeneCards Identifiers for MTM1 Gene
- GC0XP144039
- GC0XP146420
- GC0XP147508
- GC0XP148378
- GC0XP148379
- GC0XP149407
- GC0XP149487
- GC0XP149738
- GC0XP138597
Summaries 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 Centronuclear Myopathy. Among its related pathways are Metabolism and superpathway of inositol phosphate compounds. 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 for MTM1 Gene
-
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.
Additional gene information for MTM1 Gene
- Monarch Initiative
- Search for MTM1 at DataMed
- Search for MTM1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 | 2.3 | EPDnew FANTOM5 Ensembl ENCODE | 652.4 | +10.3 | 10302 | 10.1 | HDGF FOXA2 MLX ARID4B SIN3A IRF4 YY1 ZNF766 ZNF207 ZNF143 | MTM1 MTMR1 | |
| GH0XJ150504 | Enhancer | 0.7 | Ensembl ENCODE | 18.4 | -55.6 | -55597 | 5.3 | SP1 USF1 SOX6 POLR2A MAX RAD21 | MTM1 MTMR1 GC0XM150545 MAMLD1 | |
| GH0XJ150691 | Promoter/Enhancer | 2.2 | EPDnew FANTOM5 Ensembl ENCODE | 3.4 | +132.0 | 132012 | 6.9 | NEUROD1 SIN3A YY1 GLIS2 ELK1 ZNF143 ATF7 RUNX3 SP3 REST | MTMR1 LINC00894 CXorf40B MTM1 PIR43679 | |
| GH0XJ150517 | Enhancer | 0.5 | ENCODE | 12.1 | -44.9 | -44945 | 0.7 | SP1 RXRA MAX HNF4A EBF1 MEF2B RAD21 | MTMR1 MTM1 GC0XM150545 MAMLD1 | |
| GH0XJ150580 | Enhancer | 0.8 | Ensembl ENCODE | 4.7 | +18.7 | 18681 | 1.4 | GATA3 JUND FOXA2 SAP130 JUN USF2 FOSL2 FOS ZNF384 | MTMR1 MTM1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around MTM1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xq28 by Entrez Gene
- Xq28 by HGNC
- Xq28 by Ensembl
MTM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MTM1 Gene
Proteins for MTM1 Gene
-
Protein details for MTM1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13496-MTM1_HUMAN
- Recommended name:
- Myotubularin
- Protein Accession:
- Q13496
- A6NDB1
- B7Z491
- F2Z330
- Q8NEL1
Protein attributes for MTM1 Gene
- Size:
- 603 amino acids
- Molecular mass:
- 69932 Da
- Quaternary structure:
-
- 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.
Protein Expression for MTM1 Gene
Post-translational modifications for MTM1 Gene
Other Protein References for MTM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for MTM1
- Novus Biologicals Antibodies for MTM1
-
Abcam antibodies for MTM1
- Invitrogen Antibodies for MTM1
- GeneTex MTM1 Antibody for MTM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for MTM1
Protein Products
-
OriGene Purified Proteins for MTM1
- Search Origene for MassSpec and Protein Over-expression Lysates for MTM1
- Origene Custom Protein Services for MTM1
- Search GeneTex for Proteins for MTM1
-
Abcam proteins for MTM1
Assay Products
No data available for DME Specific Peptides for MTM1 Gene
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
Suggested Antigen Peptide Sequences for MTM1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13496UniProtKB/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.
Function for MTM1 Gene
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). 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- 1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004438 | phosphatidylinositol-3-phosphatase activity | IEA,TAS | -- |
| GO:0004721 | phosphoprotein phosphatase activity | IDA,IEA | 9537414 |
| GO:0004725 | protein tyrosine phosphatase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 12847286 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for MTM1 Gene
- MGI mutant phenotypes for MTM1:
-
inferred from 6 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- mortality/aging
- cellular phenotype
- muscle phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- normal phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for MTM1:
-
- Decreased shRNA abundance (Z-score < -2)
- Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance
- Increased shRNA abundance (Z-score > 2)
- Decreased ionizing radiation sensitivity
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased viability
Animal Models for MTM1 Gene
- MGI Knock Outs for MTM1:
-
- Mtm1 Mtm1<tm1.1Jman>
Animal Model Products
-
Taconic Biosciences Mouse Models for MTM1
- Cyagen custom Knockout/knockin (KOKI) mouse models for MTM1
-
CRISPR Products
-
OriGene CRISPR knockouts for MTM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTM1
- genomics-online: gRNA clones - Search results for 134 available MTM1 gene related products
- Overview of 134 available MTM1 gene related products
- Applied Biological Materials CRISPR for MTM1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTM1
- GenScript: Design CRISPR guide RNA sequences for MTM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTM1
- Browse OriGene Inhibitory RNA Products For MTM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTM1
- genomics-online: shRNA clones - Search results for 134 available MTM1 gene related products
- Overview of 134 available MTM1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MTM1
- VectorBuilder custom plasmid, inducible vectors for MTM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MTM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MTM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTM1
- Applied Biological Materials Clones for MTM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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. Note=Localizes as a dense cytoplasmic network. Also localizes to the plasma membrane, including plasma membrane extensions such as filopodia and ruffles. Predominantly located in the cytoplasm following interaction with MTMR12. Recruited to the late endosome following EGF stimulation. {ECO:0000269 PubMed:11001925, ECO:0000269 PubMed:12118066}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytosol | 5 |
| endosome | 5 |
| cytoskeleton | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | IDA | 12118066 |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005623 | cell | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 10900271 |
| GO:0005768 | endosome | IEA | -- |
Pathways & Interactions for MTM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | PI Metabolism |
.63
|
|
| 2 | Metabolism |
.37
|
|
| 3 | superpathway of inositol phosphate compounds | ||
| 4 | Glycerophospholipid biosynthesis | ||
Pathways by source for MTM1 Gene
7 Reactome pathways for MTM1 Gene
3 KEGG pathways for MTM1 Gene
Interacting Proteins for MTM1 Gene
Selected Interacting proteins:
Q13496-MTM1_HUMAN
ENSP00000359423
for MTM1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MTM1
| 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 | IDA,IEA | 14722070 |
| GO:0015031 | protein transport | IEA | -- |
No data available for SIGNOR curated interactions for MTM1 Gene
Drugs & Compounds for MTM1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1D-Myo-inositol 1,3-bisphosphate |
|
103597-56-4 |
|
|
||
| Inositol phosphate |
|
15421-51-9 |
|
|
||
| Phosphate |
|
14265-44-2 |
|
Transcripts for MTM1 Gene
mRNA/cDNA for MTM1 Gene
- (10) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (137) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000370396 3593 bps (uc004fef.5)
- ENST00000424519 361 bps (uc065bot.1)
- ENST00000370393 607 bps (uc065bou.1)
- ENST00000306167 2955 bps (uc065bov.1)
- ENST00000490530 806 bps (uc065bow.1)
Unigene Clusters for MTM1 Gene
- Myotubularin 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MTM1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTM1
- genomics-online: gRNA clones - Search results for 134 available MTM1 gene related products
- Overview of 134 available MTM1 gene related products
- Applied Biological Materials CRISPR for MTM1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTM1
- GenScript: Design CRISPR guide RNA sequences for MTM1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTM1
- Browse OriGene Inhibitory RNA Products For MTM1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTM1
- genomics-online: shRNA clones - Search results for 134 available MTM1 gene related products
- Overview of 134 available MTM1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MTM1
- VectorBuilder custom plasmid, inducible vectors for MTM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MTM1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for MTM1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTM1
- Applied Biological Materials Clones for MTM1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - |
Expression for MTM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Eye (Sensory Organs)
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neurons
- nGnG Amacrine Cells Inner Nuclear Layer
- Kidney (Urinary System)
- Limb (Muscoskeletal System)
-
Liver (Hepatobiliary System)
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
NURSA nuclear receptor signaling pathways regulating expression of MTM1 Gene:
MTM1SOURCE GeneReport for Unigene cluster for MTM1 Gene:
Hs.655056Evidence 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
Primer Products
-
OriGene qPCR primer pairs and template standards for MTM1
-
OriGene qPCR primer pairs for MTM1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MTM1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | MTM1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MTM1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mtm1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | MTM1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MTM1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mtm1 33 |
|
||
| chicken (Gallus gallus) |
Aves | MTM1 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mtm1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mtm1 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | myotubularin 35 |
|
|
|
| mtm 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | mtm-1 34 33 |
|
OneToMany | |
| Y110A7A.5 35 |
|
|
|||
| T24A11.1a 35 |
|
|
|||
| T24A11.1b 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5340 34 |
|
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
Variants for MTM1 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057516031 | pathogenic, Severe X-linked myotubular myopathy | 150,598,681(+) | G/T | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained | |
| rs132630302 | pathogenic, Severe X-linked myotubular myopathy, Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] | 150,641,306(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs132630303 | pathogenic, Severe X-linked myotubular myopathy, Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] | 150,657,957(+) | A/G | coding_sequence_variant, missense_variant | |
| rs132630304 | pathogenic, Severe X-linked myotubular myopathy, Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] | 150,598,660(+) | C/G/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs132630305 | pathogenic, Severe X-linked myotubular myopathy, Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] | 150,645,725(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv7149 | CNV | insertion | 18451855 |
| nsv520338 | CNV | loss | 19592680 |
| nsv508811 | CNV | insertion | 20534489 |
| nsv508810 | CNV | insertion | 20534489 |
| nsv1077246 | CNV | deletion | 25765185 |
| esv3577528 | CNV | gain | 25503493 |
| esv3574978 | CNV | loss | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTM1 Gene
Disorders for MTM1 Gene
(21) MalaCards diseases for MTM1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, centronuclear, x-linked |
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| centronuclear myopathy |
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| myotubular myopathy with abnormal genital development |
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| myopathy |
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| charcot-marie-tooth disease, type 4b2 |
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|
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: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
Publications for MTM1 Gene
- 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 22 44 58
- 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 22 58
- 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 22 58
- 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 22 58
- Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. (PMID: 12646134) Schaletzky J … Barr FA (Current biology : CB 2003) 3 4 22 58
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Sources for MTM1 Gene
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