MTM1 - myotubularin 1 Gene
Also Known as CNM; CNMX; MTMX; XLMTM
Species: Homo sapiens
About MTM1
This gene has 26 transcripts (splice variants), 220 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues.
Summary
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]
MTM1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_000252.3 | NP_000243.1 | myotubularin isoform 1 |
| NM_001376906.1 | NP_001363835.1 | myotubularin isoform 2 |
| NM_001376907.1 | NP_001363836.1 | myotubularin isoform 3 |
| NM_001376908.1 | NP_001363837.1 | myotubularin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables intermediate filament binding |
IDA
IDA: Inferred from direct assay
|
21135508 | GOA |
| enables phosphatidylinositol binding |
IDA
IDA: Inferred from direct assay
|
14722070 | GOA |
| enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
IDA
IDA: Inferred from direct assay
|
12646134 | GOA |
| enables phosphatidylinositol-3-phosphate phosphatase activity |
IDA
IDA: Inferred from direct assay
|
10900271 | GOA |
| enables phosphoprotein phosphatase activity |
IDA
IDA: Inferred from direct assay
|
9537414 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12847286 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endosome to lysosome transport |
IDA
IDA: Inferred from direct assay
|
14722070 | GOA |
| involved in intermediate filament organization |
IMP
IMP: Inferred from mutant phenotype
|
21135508 | GOA |
| involved in mitochondrion distribution |
IMP
IMP: Inferred from mutant phenotype
|
21135508 | GOA |
| involved in mitochondrion organization |
IDA
IDA: Inferred from direct assay
|
21135508 | GOA |
| involved in phosphatidylinositol dephosphorylation |
IDA
IDA: Inferred from direct assay
|
10900271 | GOA |
| involved in protein dephosphorylation |
IDA
IDA: Inferred from direct assay
|
9537414 | GOA |
| involved in regulation of vacuole organization |
IDA
IDA: Inferred from direct assay
|
14722070 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
10900271 | GOA |
| located in filopodium |
IDA
IDA: Inferred from direct assay
|
12118066 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
14722070 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12118066 | GOA |
| located in ruffle |
IDA
IDA: Inferred from direct assay
|
12118066 | GOA |
MTM1 Protein Structure
GRAM: GRAM domain (34 - 96)
Myotub-related: Myotubularin-like phosphatase domain (157 - 488)
- 0
- 100
- 200
- 300
- 400
- 500
- 603 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myotubularin |
|
MTM1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MTM1 | Q13496 | DES | Homo sapiens | P17661 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | DES | Homo sapiens | P17661 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | DES | Homo sapiens | P17661 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | DES | Homo sapiens | P17661 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | DES | Homo sapiens | P17661 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | MTMR12 | Homo sapiens | Q9C0I1 | 12847286 | |
|
Intra
|
MTM1 | Q13496 | MTMR12 | Homo sapiens | Q9C0I1 | 12847286 | |
|
Intra
|
MTM1 | Q13496 | MTMR12 | Homo sapiens | Q9C0I1 | 12847286 | |
|
Cross
|
MTM1 | Q13496 | Des | Mus musculus | P31001 | 21135508 | |
|
Cross
|
MTM1 | Q13496 | Des | Mus musculus | P31001 | 21135508 | |
|
Intra
|
MTM1 | Q13496 | EXOC4 | Homo sapiens | Q96A65 | 26760201 | |
|
Intra
|
MTM1 | Q13496 | BIN1 | Homo sapiens | O00499 | 23917616 | |
|
Intra
|
MTM1 | Q13496 | BIN1 | Homo sapiens | O00499 | 23917616 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Centronuclear, X-Linked |
|
|
| Respiratory System Disease |
|
|
| Centronuclear Myopathy |
|
|
| Polyhydramnios |
|
|
| Myopathy |
|
|
| Primary Microcephaly |
|
|
| Myotubular Myopathy With Abnormal Genital Development |
|
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Peliosis Hepatis |
|
|
| Myopathy, Centronuclear, 1 |
|
|
| Inflammatory Bowel Disease 21 |
|
|
| Infective Endocarditis |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Neuromuscular Disease |
|
|
| Ptosis |
|
|
| Multiminicore Disease |
|
|
| Sensory Peripheral Neuropathy |
|
|
| Inflammatory Bowel Disease 8 |
|
|
| Myotonic Dystrophy 1 |
|
|
| Charcot-Marie-Tooth Disease, Type 4b3 |
|
|
| Myopathy, Centronuclear, 2 |
|
|
| Tooth Disease |
|
|
| Endocardium Disease |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| King-Denborough Syndrome |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Central Core Disease Of Muscle |
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
|
| Ocular Motility Disease |
|
|
| Muscular Atrophy |
|
|
| Dentin Caries |
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
|
| Muscle Tissue Disease |
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
|
| Distal Arthrogryposis |
|
|
| Brachial Plexus Neuritis |
|
|
| Capillary Malformations, Congenital |
|
|
| Muscular Disease |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Bethlem Myopathy 1 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Hypotonia |
|
|
| Malignant Hyperthermia |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Peripheral Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | MTM1 | VGNC | VGNC:75071 |
| Bos taurus | MTM1 | VGNC | VGNC:31735 |
| Felis catus | MTM1 | VGNC | VGNC:68343 |
| Mus musculus | MTM1 | MGD | MGI:1099452 |
| Canis familiaris | MTM1 | VGNC | VGNC:43477 |
| Rattus norvegicus | MTM1 | RGD | RGD:1304582 |
| Others | MTM1 | NCBI |