MTMR1: Myotubularin Related Protein 1
A Phosphatidylinositol 3-Phosphatase Involved in Endosomal Trafficking and Muscle Homeostasis
Gene Information Card
| Symbol | MTMR1 |
|---|---|
| Full Name | Myotubularin Related Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 8772 ncbi.nlm.nih.gov/gene/8772 |
| Ensembl ID | ENSG00000102081 |
| UniProt ID | Q13613 |
| OMIM ID | 300174 |
| HGNC ID | 7449 |
| Aliases | MTMR1A, MTMR1B, myotubularin related protein 1 |
Description
MTMR1 encodes a member of the myotubularin family of dual-specificity phosphatases. The protein dephosphorylates phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol (3,5)-bisphosphate (PI(3,5)P2), regulating endosomal trafficking and membrane dynamics. It is highly expressed in skeletal muscle and plays a role in muscle cell differentiation and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4B3 | Loss of MTMR1 phosphatase activity disrupts endosomal trafficking in Schwann cells, leading to demyelinating neuropathy. | OMIM #603557; ClinVar |
| X-linked myotubular myopathy (possible modifier) | Altered PI3P metabolism may exacerbate muscle fiber defects in MTM1 deficiency. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Heart | 6.8 | Medium |
| Brain | 3.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 2.4 | Cervical carcinoma |
| A549 | 1.8 | Lung carcinoma |
| HepG2 | 0.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional phosphatase.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3-phosphatase activity | • phosphatidylinositol-3 |
| • 5-bisphosphate phosphatase activity | • endosome |
| • early endosome | • late endosome |
| • phosphatidylinositol dephosphorylation | • endosomal transport |
| • muscle cell differentiation |
Pathways
• Phosphatidylinositol phosphate metabolism
• Endosomal trafficking
• Myotubularin-related pathway
Protein Summary
MTMR1 is a 665-amino acid protein containing a GRAM domain, a phosphatase domain, and a coiled-coil region. It localizes to early and late endosomes, where it dephosphorylates PI3P and PI(3,5)P2, controlling endosomal maturation and signaling. In skeletal muscle, it supports myoblast fusion and maintenance of muscle fiber integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR14 Knockout HEK293 Cell Line | EDJ-KQ988 | Human | 64419 | Details Get a Quote |
| MTMR1 Knockout HEK293 Cell Line | EDJ-KQ1663 | Human | 8776 | Details Get a Quote |
| MTMR11 Knockout HEK293 Cell Line | EDJ-KQ7209 | Human | 10903 | Details Get a Quote |
| MTMR12 Knockout HEK293 Cell Line | EDJ-KQ11460 | Human | 54545 | Details Get a Quote |
| MTMR10 Knockout HEK293 Cell Line | EDJ-KQ14332 | Human | 54893 | Details Get a Quote |
| MTMR14 Knockout A-549 Cell Line | EDJ-KQ20014 | Human | 64419 | Details Get a Quote |
| MTMR14 Knockout HCT 116 Cell Line | EDJ-KQ20015 | Human | 64419 | Details Get a Quote |
| MTMR14 Knockout HeLa Cell Line | EDJ-KQ20016 | Human | 64419 | Details Get a Quote |
| MTMR1 Knockout A-549 Cell Line | EDJ-KQ20074 | Human | 8776 | Details Get a Quote |
| MTMR11 Knockout A-549 Cell Line | EDJ-KQ32152 | Human | 10903 | Details Get a Quote |
| MTMR11 Knockout HCT 116 Cell Line | EDJ-KQ32153 | Human | 10903 | Details Get a Quote |
| MTMR11 Knockout HeLa Cell Line | EDJ-KQ32154 | Human | 10903 | Details Get a Quote |
| MTMR10 Knockout A-549 Cell Line | EDJ-KQ44439 | Human | 54893 | Details Get a Quote |
| MTMR10 Knockout HCT 116 Cell Line | EDJ-KQ44440 | Human | 54893 | Details Get a Quote |
| MTMR10 Knockout HeLa Cell Line | EDJ-KQ44441 | Human | 54893 | Details Get a Quote |
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