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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 (Myotubularin 1) is a Protein Coding gene. Diseases associated with MTM1 include Myopathy, Centronuclear, X-Linked and Myopathy. Among its related pathways are Inositol phosphate metabolism (KEGG) 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.
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 | 602.4 | +10.2 | 10246 | 10.2 | SP1 CREB1 GATAD2A HNRNPL PRDM10 REST SIX5 ZNF692 RCOR2 JUND | MTM1 MTMR1 HSALNG0140645 | |
GH0XJ150504 | Promoter/Enhancer | 0.9 | Ensembl ENCODE | 18.4 | -55.5 | -55532 | 5.4 | SP1 POLR2A SOX6 USF1 RAD21 SIN3A MAX SMARCA4 TAF1 CTCF | MTM1 MTMR1 RF01061-205 lnc-MTM1-1 MAMLD1 | |
GH0XJ150517 | Enhancer | 0.6 | Ensembl ENCODE | 12.1 | -44.9 | -44945 | 0.7 | SP1 EBF1 RAD21 HNF4A RXRA MAX | MTMR1 MTM1 RF01061-205 lnc-MTM1-1 MAMLD1 | |
GH0XJ150691 | Promoter/Enhancer | 2.1 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 3.4 | +132.0 | 132012 | 6.9 | CREB1 ZNF629 IKZF1 FOXA1 GABPA ZIC2 RBFOX2 POLR2A PATZ1 TCF12 | MTMR1 LINC00894 EOLA2 MTM1 CYP2C64P CD99L2 | |
GH0XJ150593 | Enhancer | 0.3 | Ensembl | 13.1 | +32.3 | 32343 | 1.2 | RFX1 SPI1 | MTM1 MTMR1 HSALNG0140645 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004438 | phosphatidylinositol-3-phosphatase activity | IEA,IDA | 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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IEA,IDA | 12118066 |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 10900271 |
GO:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | IEA,IDA | 14722070 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PI Metabolism |
.63
|
|
2 | Metabolism |
.40
|
|
3 | Inositol phosphate metabolism (KEGG) | ||
4 | Glycerophospholipid biosynthesis |
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 | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
1D-Myo-inositol 1,3-bisphosphate |
|
103597-56-4 |
|
|
||
Inositol phosphate |
|
15421-51-9 |
|
|
||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
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: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTM1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | MTM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mtm1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MTM1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTM1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mtm1 30 |
|
||
Chicken (Gallus gallus) |
Aves | MTM1 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtm1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mtm1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | myotubularin 32 |
|
|
|
mtm 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | mtm-1 30 31 |
|
OneToMany | |
Y110A7A.5 32 |
|
|
|||
T24A11.1a 32 |
|
|
|||
T24A11.1b 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5340 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
646347 | Uncertain Significance: Severe X-linked myotubular myopathy | 150,592,619(+) | C/T | MISSENSE_VARIANT | |
649278 | Pathogenic: Severe X-linked myotubular myopathy | 150,596,496(+) | A/G | ||
649438 | Uncertain Significance: Severe X-linked myotubular myopathy | 150,641,270(+) | G/T | MISSENSE_VARIANT | |
658934 | Uncertain Significance: Severe X-linked myotubular myopathy | 150,596,502(+) | CTCGAGATGGAGTCAA | INFRAME_DELETION | |
660442 | Uncertain Significance: Severe X-linked myotubular myopathy | 150,671,449(+) | C/T | MISSENSE_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, x-linked |
|
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myopathy |
|
|
centronuclear myopathy |
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polyhydramnios |
|
|
respiratory system disease |
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